Variant report

Variant	rs2253052
Chromosome Location	chr6:31462031-31462032
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:167)
CpG islands
(count:61)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:167 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr6:31461574-31462269	K562	blood:	n/a	n/a
2	STAT3	chr6:31462023-31462137	MCF10A-Er-Src	breast:	n/a	n/a
3	HEY1	chr6:31461636-31462348	K562	blood:	n/a	n/a
4	TBL1XR1	chr6:31461553-31462218	K562	blood:	n/a	n/a
5	POLR2A	chr6:31461665-31462294	GM18505	blood:	n/a	n/a
6	TAF1	chr6:31461570-31462119	GM12878	blood:	n/a	n/a
7	NANOG	chr6:31461997-31462237	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr6:31461547-31462056	H1-neurons	neurons:	n/a	n/a
9	TCF7L2	chr6:31461608-31462344	Hela-S3	cervix:	n/a	n/a
10	MAX	chr6:31461570-31462471	K562	blood:	n/a	n/a
11	CTCF	chr6:31461960-31462110	HFF	foreskin:	n/a	n/a
12	POLR2A	chr6:31461586-31463730	PANC-1	pancreas:	n/a	n/a
13	RELA	chr6:31461652-31462337	GM15510	blood:	n/a	n/a
14	TFAP2C	chr6:31461532-31462411	Hela-S3	cervix:	n/a	n/a
15	TCF3	chr6:31461855-31462333	GM12878	blood:	n/a	chr6:31462133-31462147 chr6:31462130-31462143
16	CTCF	chr6:31461501-31462063	HCT-116	colon:	n/a	chr6:31461715-31461731 chr6:31461934-31461947
17	YY1	chr6:31461940-31462263	H1-hESC	embryonic stem cell:	n/a	n/a
18	TEAD4	chr6:31461509-31462352	HepG2	liver:	n/a	n/a
19	MAZ	chr6:31461520-31462321	IMR90	lung:	n/a	n/a
20	TAF1	chr6:31461973-31462241	H1-hESC	embryonic stem cell:	n/a	n/a
21	TBL1XR1	chr6:31461591-31462048	K562	blood:	n/a	n/a
22	POLR2A	chr6:31461475-31462434	HUVEC	blood vessel:	n/a	n/a
23	REST	chr6:31461970-31462198	SK-N-SH	brain:	n/a	chr6:31462046-31462056
24	TEAD4	chr6:31461487-31462295	K562	blood:	n/a	n/a
25	RAD21	chr6:31461531-31462104	IMR90	lung:	n/a	chr6:31461933-31461947
26	GATA3	chr6:31461920-31462299	T-47D	breast:	n/a	n/a
27	POLR2A	chr6:31461590-31462402	GM12878	blood:	n/a	n/a
28	SIN3AK20	chr6:31461453-31462456	PANC-1	pancreas:	n/a	n/a
29	MAX	chr6:31461463-31462328	A549	lung:	n/a	n/a
30	ZNF263	chr6:31461562-31462331	HEK293-T-REx	kidney:	n/a	n/a
31	ELF1	chr6:31461524-31462247	GM12878	blood:	n/a	chr6:31461934-31461946
32	SIN3AK20	chr6:31462003-31462174	HepG2	liver:	n/a	n/a
33	POLR2A	chr6:31461629-31463212	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr6:31461979-31462392	H1-hESC	embryonic stem cell:	n/a	n/a
35	CCNT2	chr6:31461596-31462186	K562	blood:	n/a	n/a
36	HEY1	chr6:31461636-31462471	K562	blood:	n/a	n/a
37	HEY1	chr6:31461617-31462323	HepG2	liver:	n/a	n/a
38	ELF1	chr6:31461570-31462263	K562	blood:	n/a	chr6:31461934-31461946
39	PML	chr6:31461555-31462237	K562	blood:	n/a	n/a
40	JUND	chr6:31461559-31462034	K562	blood:	n/a	n/a
41	JUND	chr6:31461962-31462264	HepG2	liver:	n/a	n/a
42	TEAD4	chr6:31461531-31462361	H1-hESC	embryonic stem cell:	n/a	n/a
43	HDAC2	chr6:31461524-31462278	H1-hESC	embryonic stem cell:	n/a	n/a
44	PML	chr6:31461424-31462326	GM12878	blood:	n/a	n/a
45	POLR2A	chr6:31461609-31463055	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr6:31461596-31463853	HUVEC	blood vessel:	n/a	n/a
47	HDAC2	chr6:31461580-31462421	MCF-7	breast:	n/a	n/a
48	JUND	chr6:31461601-31462255	A549	lung:	n/a	n/a
49	CBX3	chr6:31461468-31462341	K562	blood:	n/a	chr6:31461534-31461545
50	HDAC2	chr6:31461562-31462294	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31461999-31462049	GM12891	blood:	n/a
2	chr6:31461999-31462049	SK-N-SH	brain:	n/a
3	chr6:31461999-31462049	SK-N-MC	brain:	n/a
4	chr6:31461999-31462049	HL-60	blood:	n/a
5	chr6:31461999-31462049	PANC-1	pancreas:	n/a
6	chr6:31461999-31462049	T-47D	breast:	n/a
7	chr6:31461999-31462049	HCPEpiC	choroid plexus:	n/a
8	chr6:31461999-31462049	HMEC	breast:	n/a
9	chr6:31461999-31462049	ProgFib	skin:	n/a
10	chr6:31461999-31462049	GM12878	blood:	n/a
11	chr6:31461999-31462049	GM19239	blood:	n/a
12	chr6:31461999-31462049	GM12892	blood:	n/a
13	chr6:31461999-31462049	AG09319	gingival:	n/a
14	chr6:31461999-31462049	ovcar-3	ovarian:	n/a
15	chr6:31461999-31462049	AG09309	skin:	n/a
16	chr6:31461999-31462049	PFSK-1	brain:	n/a
17	chr6:31461999-31462049	BE2_C	brain:	n/a
18	chr6:31461999-31462049	A549	lung:	n/a
19	chr6:31461999-31462049	Caco-2	colon:	n/a
20	chr6:31461999-31462049	Hepatocyte	liver:	n/a
21	chr6:31461999-31462049	CMK	blood:	n/a
22	chr6:31461999-31462049	HEK293	kidney:	embryo
23	chr6:31461999-31462049	HPAEpiC	pulmonary alveolar:	n/a
24	chr6:31461999-31462049	AG10803	skin:	n/a
25	chr6:31461999-31462049	LNCaP	prostate:	n/a
26	chr6:31461999-31462049	HAEpiC	amniotic membrane:	n/a
27	chr6:31461999-31462049	HIPEpiC	eye:	n/a
28	chr6:31461999-31462049	U87	brain:	n/a
29	chr6:31461999-31462049	IMR90	lung:	fetal
30	chr6:31461999-31462049	BJ	skin:	n/a
31	chr6:31461999-31462049	AoSMC	blood vessel:	n/a
32	chr6:31461999-31462049	MCF-7	breast:	n/a
33	chr6:31461999-31462049	HRE	kidney:	n/a
34	chr6:31461999-31462049	AG04449	skin:	fetal
35	chr6:31461999-31462049	SAEC	small airway:	n/a
36	chr6:31461999-31462049	HEEpiC	esophagus:	n/a
37	chr6:31461999-31462049	ECC-1	luminal epithelium:	n/a
38	chr6:31461999-31462049	MCF10A-Er-Src	breast:	n/a
39	chr6:31461999-31462049	H1-hESC	embryonic stem cell:	embryo
40	chr6:31461999-31462049	NB4	blood:	n/a
41	chr6:31461999-31462049	HCT-116	colon:	n/a
42	chr6:31461999-31462049	HCF	heart:	n/a
43	chr6:31461999-31462049	PrEC	prostate:	n/a
44	chr6:31461999-31462049	SK-N-SH_RA	brain:	n/a
45	chr6:31461999-31462049	AG04450	lung:	fetal
46	chr6:31461999-31462049	Jurkat	blood:	n/a
47	chr6:31461999-31462049	NH-A	brain:	n/a
48	chr6:31461999-31462049	HRPEpiC	eye:	n/a
49	chr6:31461999-31462049	NHBE	bronchial:	n/a
50	chr6:31461999-31462049	HCM	heart:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31461866..31464235-chr6:31513189..31515982,2	K562	blood:
2	chr6:29944580..29945510-chr6:31461603..31462125,3	HCT-116	colon:
3	chr6:31365846..31369030-chr6:31460300..31464467,7	K562	blood:
4	chr6:31459795..31462964-chr6:31499493..31502905,3	K562	blood:
5	chr6:31461147..31462941-chr6:31618531..31620077,2	K562	blood:
6	chr6:31460255..31464524-chr6:31513189..31516444,5	K562	blood:
7	chr6:31164998..31165548-chr6:31461463..31462414,2	Hela-S3	cervix:
8	chr6:31461526..31464326-chr6:31496464..31498692,2	K562	blood:
9	chr6:31460341..31462076-chr6:31501405..31503283,2	K562	blood:
10	chr6:31461159..31464326-chr6:31493652..31499334,8	K562	blood:
11	chr6:29945013..29945528-chr6:31461611..31462151,2	MCF-7	breast:
12	chr6:31461211..31463484-chr6:31498734..31500993,3	K562	blood:
13	chr6:31459710..31467567-chr6:31506191..31511027,18	MCF-7	breast:
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	chr6:31460672..31463218-chr6:31514855..31517423,2	MCF-7	breast:
18	chr6:31461691..31462229-chr6:31496014..31496754,2	MCF-7	breast:
19	chr6:31461608..31462222-chr6:31514557..31515072,2	K562	blood:
20	chr6:31458384..31468965-chr6:31503613..31512721,28	K562	blood:
21	chr6:31461622..31462526-chr6:31514129..31514895,2	MCF-7	breast:
22	chr6:31461360..31462200-chr6:31564947..31565457,2	K562	blood:
23	chr6:31459984..31462302-chr6:31464597..31467280,2	MCF-7	breast:
24	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
ENSG00000213760	Chromatin interaction
ENSG00000206337	Chromatin interaction
ENSG00000225499	Chromatin interaction
ENSG00000204498	Chromatin interaction
ENSG00000204511	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000204463	Chromatin interaction
ENSG00000206344	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000204516	Chromatin interaction
ENSG00000201785	Chromatin interaction
ENSG00000254870	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs2253040	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2253042	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2395036	0.87[ASN][1000 genomes]
rs2395037	0.87[ASN][1000 genomes]
rs2395039	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2428498	0.87[ASN][1000 genomes]
rs2428499	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2507963	0.85[ASN][1000 genomes]
rs2507964	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2516408	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2516412	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2516413	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516415	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516416	0.87[ASN][1000 genomes]
rs2516417	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516427	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2516499	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2534660	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2534672	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2534673	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2534675	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2534679	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2534680	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2534684	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2534685	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2534686	0.81[ASN][1000 genomes]
rs2534687	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2844501	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2855802	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2855803	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2855804	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2855808	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2855816	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2855817	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2894221	0.88[ASN][1000 genomes]
rs2904592	0.87[ASN][1000 genomes]
rs2905724	0.81[EUR][1000 genomes]
rs3020831	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3091286	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130917	0.81[ASN][1000 genomes]
rs3130918	0.81[ASN][1000 genomes]
rs7749255	0.87[ASN][1000 genomes]
rs9267248	0.80[EUR][1000 genomes]
rs9267259	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9267294	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:64 , 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
rs2253052	MICB	cis	Esophagus Mucosa	GTEx
rs2253052	MICB	cis	Artery Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31459400-31466600	Active TSS	GM12878-XiMat	blood
2	chr6:31461000-31462800	Active TSS	Muscle Satellite Cultured Cells	--
3	chr6:31461200-31462800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:31461200-31463800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:31461200-31465000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:31461400-31462200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:31461400-31462400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr6:31461400-31463000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:31461400-31463000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr6:31461400-31463000	Active TSS	HSMMtube	muscle
11	chr6:31461400-31463000	Active TSS	NH-A	brain
12	chr6:31461400-31463400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr6:31461400-31463600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:31461400-31463800	Active TSS	Hela-S3	cervix
15	chr6:31461400-31464600	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr6:31461600-31462200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr6:31461600-31462200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
18	chr6:31461600-31462400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr6:31461600-31462400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:31461600-31462400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:31461600-31462400	Flanking Active TSS	Liver	Liver
22	chr6:31461600-31462400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
23	chr6:31461600-31462400	Flanking Active TSS	Colonic Mucosa	Colon
24	chr6:31461600-31462400	Bivalent Enhancer	Fetal Brain Male	brain
25	chr6:31461600-31462400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
26	chr6:31461600-31462400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr6:31461600-31462800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:31461600-31462800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:31461600-31462800	Active TSS	Primary T cells from cord blood	blood
30	chr6:31461600-31462800	Active TSS	Primary hematopoietic stem cells	blood
31	chr6:31461600-31462800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:31461600-31462800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr6:31461600-31462800	Active TSS	Gastric	stomach
34	chr6:31461600-31462800	Active TSS	NHDF-Ad	bronchial
35	chr6:31461600-31463000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr6:31461600-31463000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:31461600-31463000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:31461600-31463000	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr6:31461600-31463000	Active TSS	Aorta	Aorta
40	chr6:31461600-31463000	Active TSS	Brain Anterior Caudate	brain
41	chr6:31461600-31463000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
42	chr6:31461600-31463000	Active TSS	Esophagus	oesophagus
43	chr6:31461600-31463000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
44	chr6:31461600-31463000	Active TSS	Lung	lung
45	chr6:31461600-31463000	Active TSS	Pancreas	Pancrea
46	chr6:31461600-31463000	Active TSS	Right Ventricle	heart
47	chr6:31461600-31463000	Active TSS	Small Intestine	intestine
48	chr6:31461600-31463200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:31461600-31463200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr6:31461600-31463200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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