Variant report

Variant	rs2253040
Chromosome Location	chr6:31461778-31461779
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:372)
CpG islands
(count:183)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:31461594-31461946	H1-hESC	embryonic stem cell:	n/a	n/a
2	HDAC2	chr6:31461552-31461873	K562	blood:	n/a	n/a
3	SIN3AK20	chr6:31461608-31461845	HepG2	liver:	n/a	n/a
4	ZBTB7A	chr6:31461574-31462269	K562	blood:	n/a	n/a
5	POLR2A	chr6:31461607-31461835	H1-hESC	embryonic stem cell:	n/a	n/a
6	HEY1	chr6:31461636-31462348	K562	blood:	n/a	n/a
7	CTCF	chr6:31461527-31461890	ECC-1	luminal epithelium:	n/a	chr6:31461715-31461731
8	TBL1XR1	chr6:31461553-31462218	K562	blood:	n/a	n/a
9	CTCF	chr6:31461566-31461824	A549	lung:	n/a	chr6:31461715-31461731
10	POLR2A	chr6:31461665-31462294	GM18505	blood:	n/a	n/a
11	CTCF	chr6:31461576-31461872	Gliobla	brain:	n/a	chr6:31461715-31461731
12	TAF1	chr6:31461570-31462119	GM12878	blood:	n/a	n/a
13	FOS	chr6:31461577-31461779	MCF10A-Er-Src	breast:	n/a	n/a
14	EP300	chr6:31461565-31461833	K562	blood:	n/a	n/a
15	MYC	chr6:31461576-31461857	MCF10A-Er-Src	breast:	n/a	n/a
16	NFIC	chr6:31461522-31461882	HepG2	liver:	n/a	n/a
17	POLR2A	chr6:31461547-31462056	H1-neurons	neurons:	n/a	n/a
18	TCF7L2	chr6:31461608-31462344	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr6:31461660-31461810	RPTEC	kidney:	n/a	chr6:31461715-31461731
20	MAX	chr6:31461570-31462471	K562	blood:	n/a	n/a
21	CTCF	chr6:31461579-31461867	ProgFib	skin:	n/a	chr6:31461715-31461731
22	POLR2A	chr6:31461586-31463730	PANC-1	pancreas:	n/a	n/a
23	TBL1XR1	chr6:31461628-31461786	GM12878	blood:	n/a	n/a
24	MAX	chr6:31461519-31461911	K562	blood:	n/a	n/a
25	SP1	chr6:31461558-31461883	GM12878	blood:	n/a	n/a
26	CTCF	chr6:31461640-31461790	AG04450	lung:	n/a	chr6:31461715-31461731
27	E2F6	chr6:31461571-31461858	K562	blood:	n/a	n/a
28	TCF12	chr6:31461592-31461845	H1-hESC	embryonic stem cell:	n/a	n/a
29	RELA	chr6:31461652-31462337	GM15510	blood:	n/a	n/a
30	TFAP2C	chr6:31461532-31462411	Hela-S3	cervix:	n/a	n/a
31	MYC	chr6:31461639-31461792	MCF-7	breast:	n/a	n/a
32	TAF1	chr6:31461557-31461833	SK-N-SH	brain:	n/a	n/a
33	SMC3	chr6:31461549-31461901	K562	blood:	n/a	n/a
34	CTCF	chr6:31461660-31461810	GM12865	blood:	n/a	chr6:31461715-31461731
35	MAFK	chr6:31461602-31461924	Hela-S3	cervix:	n/a	chr6:31461726-31461742
36	CTCF	chr6:31461501-31462063	HCT-116	colon:	n/a	chr6:31461715-31461731 chr6:31461934-31461947
37	TAF1	chr6:31461633-31461823	PFSK-1	brain:	n/a	n/a
38	CTCF	chr6:31461640-31461790	HFF	foreskin:	n/a	chr6:31461715-31461731
39	BRCA1	chr6:31461543-31461805	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr6:31461640-31461790	SAEC	small airway:	n/a	chr6:31461715-31461731
41	NRF1	chr6:31461607-31461791	GM12878	blood:	n/a	n/a
42	CTCF	chr6:31461680-31461830	HUVEC	blood vessel:	n/a	chr6:31461715-31461731
43	TEAD4	chr6:31461509-31462352	HepG2	liver:	n/a	n/a
44	CTCF	chr6:31461592-31461861	H1-hESC	embryonic stem cell:	n/a	chr6:31461715-31461731
45	CTCF	chr6:31461660-31461810	BJ	skin:	n/a	chr6:31461715-31461731
46	POLR2A	chr6:31461661-31462023	PBDE	blood:	n/a	n/a
47	ELK1	chr6:31461624-31461805	GM12878	blood:	n/a	n/a
48	CTCF	chr6:31461578-31461871	MCF-7	breast:	n/a	chr6:31461715-31461731
49	MAZ	chr6:31461520-31462321	IMR90	lung:	n/a	n/a
50	TBL1XR1	chr6:31461591-31462048	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31461728-31461778	PFSK-1	brain:	n/a
2	chr6:31461768-31461818	BE2_C	brain:	n/a
3	chr6:31461728-31461778	K562	blood:	n/a
4	chr6:31461748-31461798	K562	blood:	n/a
5	chr6:31461748-31461798	AG04449	skin:	fetal
6	chr6:31461728-31461778	HPAEpiC	pulmonary alveolar:	n/a
7	chr6:31461748-31461798	HRPEpiC	eye:	n/a
8	chr6:31461768-31461818	Jurkat	blood:	n/a
9	chr6:31461748-31461798	HPAEpiC	pulmonary alveolar:	n/a
10	chr6:31461728-31461778	SKMC	muscle:	n/a
11	chr6:31461728-31461778	Caco-2	colon:	n/a
12	chr6:31461728-31461778	IMR90	lung:	fetal
13	chr6:31461768-31461818	AG04449	skin:	fetal
14	chr6:31461768-31461818	PrEC	prostate:	n/a
15	chr6:31461748-31461798	HCT-116	colon:	n/a
16	chr6:31461728-31461778	BE2_C	brain:	n/a
17	chr6:31461748-31461798	HEEpiC	esophagus:	n/a
18	chr6:31461728-31461778	ECC-1	luminal epithelium:	n/a
19	chr6:31461748-31461798	SK-N-MC	brain:	n/a
20	chr6:31461728-31461778	T-47D	breast:	n/a
21	chr6:31461748-31461798	HIPEpiC	eye:	n/a
22	chr6:31461768-31461818	SK-N-SH	brain:	n/a
23	chr6:31461728-31461778	H1-hESC	embryonic stem cell:	embryo
24	chr6:31461728-31461778	MCF10A-Er-Src	breast:	n/a
25	chr6:31461728-31461778	HUVEC	blood vessel:	n/a
26	chr6:31461728-31461778	AG10803	skin:	n/a
27	chr6:31461748-31461798	ovcar-3	ovarian:	n/a
28	chr6:31461728-31461778	SK-N-SH	brain:	n/a
29	chr6:31461768-31461818	T-47D	breast:	n/a
30	chr6:31461768-31461818	GM19239	blood:	n/a
31	chr6:31461748-31461798	HMEC	breast:	n/a
32	chr6:31461748-31461798	Hela-S3	cervix:	n/a
33	chr6:31461748-31461798	IMR90	lung:	fetal
34	chr6:31461748-31461798	GM12878	blood:	n/a
35	chr6:31461728-31461778	HIPEpiC	eye:	n/a
36	chr6:31461748-31461798	ProgFib	skin:	n/a
37	chr6:31461728-31461778	HL-60	blood:	n/a
38	chr6:31461768-31461818	GM12892	blood:	n/a
39	chr6:31461728-31461778	SK-N-SH_RA	brain:	n/a
40	chr6:31461748-31461798	BJ	skin:	n/a
41	chr6:31461728-31461778	HEEpiC	esophagus:	n/a
42	chr6:31461768-31461818	HRPEpiC	eye:	n/a
43	chr6:31461748-31461798	GM12892	blood:	n/a
44	chr6:31461728-31461778	HCM	heart:	n/a
45	chr6:31461748-31461798	NT2-D1	testis:	n/a
46	chr6:31461748-31461798	Jurkat	blood:	n/a
47	chr6:31461768-31461818	HNPCEpiC	eye:	n/a
48	chr6:31461748-31461798	GM12891	blood:	n/a
49	chr6:31461768-31461818	HEEpiC	esophagus:	n/a
50	chr6:31461768-31461818	AG10803	skin:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29944580..29945510-chr6:31461603..31462125,3	HCT-116	colon:
2	chr6:31365846..31369030-chr6:31460300..31464467,7	K562	blood:
3	chr6:31459795..31462964-chr6:31499493..31502905,3	K562	blood:
4	chr6:31461147..31462941-chr6:31618531..31620077,2	K562	blood:
5	chr6:31460255..31464524-chr6:31513189..31516444,5	K562	blood:
6	chr6:31164998..31165548-chr6:31461463..31462414,2	Hela-S3	cervix:
7	chr6:31461526..31464326-chr6:31496464..31498692,2	K562	blood:
8	chr6:31460341..31462076-chr6:31501405..31503283,2	K562	blood:
9	chr6:31461159..31464326-chr6:31493652..31499334,8	K562	blood:
10	chr6:29945013..29945528-chr6:31461611..31462151,2	MCF-7	breast:
11	chr6:31461211..31463484-chr6:31498734..31500993,3	K562	blood:
12	chr6:31459710..31467567-chr6:31506191..31511027,18	MCF-7	breast:
13	chr6:31459935..31461853-chr6:31464053..31467261,4	K562	blood:
14	chr6:31461211..31462110-chr6:31566059..31566733,2	MCF-7	breast:
15	chr6:31457500..31459013-chr6:31460280..31462623,2	K562	blood:
16	chr6:31365716..31368807-chr6:31460300..31464467,6	K562	blood:
17	chr6:31459878..31461795-chr6:31557754..31559945,2	K562	blood:
18	chr6:31460672..31463218-chr6:31514855..31517423,2	MCF-7	breast:
19	chr6:31461691..31462229-chr6:31496014..31496754,2	MCF-7	breast:
20	chr6:31461608..31462222-chr6:31514557..31515072,2	K562	blood:
21	chr6:31458384..31468965-chr6:31503613..31512721,28	K562	blood:
22	chr6:31461622..31462526-chr6:31514129..31514895,2	MCF-7	breast:
23	chr6:31461360..31462200-chr6:31564947..31565457,2	K562	blood:
24	chr6:31459984..31462302-chr6:31464597..31467280,2	MCF-7	breast:
25	chr6:31367361..31367866-chr6:31461272..31461916,4	MCF-7	breast:
26	chr6:31460486..31468205-chr6:31503942..31512721,23	K562	blood:

No data

Variant related genes	Relation type
MICB	TF binding region
MICB	CpG island
ENSG00000204625	Chromatin interaction
ENSG00000204516	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000201680	Chromatin interaction
ENSG00000206344	Chromatin interaction
ENSG00000204498	Chromatin interaction
ENSG00000254870	Chromatin interaction
ENSG00000206337	Chromatin interaction
ENSG00000204463	Chromatin interaction
ENSG00000201785	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000204511	Chromatin interaction
ENSG00000213760	Chromatin interaction
ENSG00000225499	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs2253042	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2253052	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2395036	0.88[ASN][1000 genomes]
rs2395037	0.88[ASN][1000 genomes]
rs2395039	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2428498	0.88[ASN][1000 genomes]
rs2428499	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2507963	0.86[ASN][1000 genomes]
rs2507964	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2516408	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2516412	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2516413	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2516415	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516416	0.88[ASN][1000 genomes]
rs2516417	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516427	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2516499	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2534660	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2534672	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2534673	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2534675	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2534679	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2534680	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2534684	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2534685	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2534686	0.82[ASN][1000 genomes]
rs2534687	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2844501	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2855802	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2855803	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2855804	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2855808	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2855816	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2855817	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2894221	0.89[ASN][1000 genomes]
rs2904592	0.88[ASN][1000 genomes]
rs2905724	0.83[EUR][1000 genomes]
rs3020831	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3091286	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3130917	0.83[ASN][1000 genomes]
rs3130918	0.83[ASN][1000 genomes]
rs7749255	0.88[ASN][1000 genomes]
rs9267248	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9267259	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9267294	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
2	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
3	nsv428140	chr6:31028290-31462106	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
4	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
5	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
6	esv3381377	chr6:31192213-31498578	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
7	esv3340592	chr6:31192248-31498535	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
8	nsv1021052	chr6:31206639-31485736	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
9	nsv1022451	chr6:31279535-31485736	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
10	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
11	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
12	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
13	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
14	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
15	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
16	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
17	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
18	nsv517441	chr6:31336100-31463963	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
19	nsv1018463	chr6:31337336-31525275	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
20	nsv538189	chr6:31337336-31525275	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
21	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
22	esv2752115	chr6:31352880-31498721	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
23	esv1831710	chr6:31352945-31477763	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
24	nsv1034727	chr6:31353329-31465103	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
25	esv2752118	chr6:31353329-31481321	Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
26	esv2757162	chr6:31353329-31542308	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
27	esv1827731	chr6:31353930-31471391	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
28	esv1833123	chr6:31353930-31471391	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
29	esv1825070	chr6:31354819-31463963	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
30	esv1832352	chr6:31355100-31477763	Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
31	esv3475036	chr6:31356065-31465064	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
32	esv3475037	chr6:31356065-31465064	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
33	esv34684	chr6:31359621-31474688	Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
34	esv2752119	chr6:31359621-31498521	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
35	esv2752121	chr6:31359648-31465795	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
36	nsv1021984	chr6:31360095-31465103	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
37	nsv1030071	chr6:31360095-31465795	Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
38	nsv1020595	chr6:31360095-31474688	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
39	nsv1022499	chr6:31360095-31485174	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
40	nsv1031110	chr6:31362310-31465103	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
41	nsv1026211	chr6:31362310-31474688	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
42	nsv1018716	chr6:31362310-31481299	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
43	nsv1015252	chr6:31362930-31465103	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
44	esv3434932	chr6:31377226-31471978	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
45	esv3362717	chr6:31377565-31479170	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
46	nsv432874	chr6:31379821-31498521	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
47	nsv1022089	chr6:31383848-31465795	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
48	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
49	nsv1021331	chr6:31388423-31465103	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
50	nsv432877	chr6:31412961-31528690	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2253040	MICB	cis	Esophagus Mucosa	GTEx
rs2253040	MICB	cis	Artery Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31456200-31461800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:31459400-31466600	Active TSS	GM12878-XiMat	blood
3	chr6:31461000-31461800	Flanking Active TSS	Dnd41	blood
4	chr6:31461000-31462800	Active TSS	Muscle Satellite Cultured Cells	--
5	chr6:31461200-31461800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:31461200-31461800	Flanking Active TSS	HUVEC	blood vessel
7	chr6:31461200-31461800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr6:31461200-31462000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:31461200-31462000	Flanking Active TSS	Fetal Thymus	thymus
10	chr6:31461200-31462800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:31461200-31463800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:31461200-31465000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:31461400-31461800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:31461400-31461800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr6:31461400-31461800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr6:31461400-31461800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:31461400-31461800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:31461400-31461800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr6:31461400-31461800	Active TSS	HMEC	breast
20	chr6:31461400-31461800	Flanking Active TSS	K562	blood
21	chr6:31461400-31462000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:31461400-31462200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:31461400-31462400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr6:31461400-31463000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr6:31461400-31463000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr6:31461400-31463000	Active TSS	HSMMtube	muscle
27	chr6:31461400-31463000	Active TSS	NH-A	brain
28	chr6:31461400-31463400	Active TSS	H1 Cell Line	embryonic stem cell
29	chr6:31461400-31463600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:31461400-31463800	Active TSS	Hela-S3	cervix
31	chr6:31461400-31464600	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr6:31461600-31461800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:31461600-31461800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
34	chr6:31461600-31461800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr6:31461600-31461800	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr6:31461600-31461800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr6:31461600-31461800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:31461600-31461800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr6:31461600-31461800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:31461600-31461800	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
41	chr6:31461600-31461800	Enhancers	Brain Angular Gyrus	brain
42	chr6:31461600-31461800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
43	chr6:31461600-31461800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
44	chr6:31461600-31461800	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr6:31461600-31461800	Bivalent Enhancer	Fetal Intestine Large	intestine
46	chr6:31461600-31461800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
47	chr6:31461600-31461800	Enhancers	Ovary	ovary
48	chr6:31461600-31461800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr6:31461600-31461800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
50	chr6:31461600-31461800	Flanking Active TSS	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links