Variant report

Variant	rs2251731
Chromosome Location	chr6:31367365-31367366
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr6:31367322-31367865	Hela-S3	cervix:	n/a	n/a
2	EGR1	chr6:31367285-31368026	ECC-1	luminal epithelium:	n/a	chr6:31367785-31367794 chr6:31367784-31367794 chr6:31367782-31367795 chr6:31367783-31367794 chr6:31367782-31367795 chr6:31367783-31367794 chr6:31367794-31367808 chr6:31367782-31367795 chr6:31367716-31367723 chr6:31367778-31367800 chr6:31367782-31367796 chr6:31367784-31367794
3	POLR2A	chr6:31367203-31368590	MCF10A-Er-Src	breast:	n/a	n/a
4	HDAC2	chr6:31367339-31367909	K562	blood:	n/a	n/a
5	CTCF	chr6:31367261-31367765	K562	blood:	n/a	chr6:31367505-31367521 chr6:31367685-31367698
6	FOSL2	chr6:31367296-31368698	HepG2	liver:	n/a	n/a
7	CTCF	chr6:31367320-31367470	BE2_C	brain:	n/a	n/a
8	NFIC	chr6:31367319-31368701	HepG2	liver:	n/a	n/a
9	NFATC1	chr6:31367257-31367786	GM12878	blood:	n/a	n/a
10	SIX5	chr6:31367318-31367933	A549	lung:	n/a	n/a
11	NR2F2	chr6:31367193-31369690	K562	blood:	n/a	n/a
12	TFAP2C	chr6:31367326-31368136	Hela-S3	cervix:	n/a	n/a
13	BCLAF1	chr6:31367243-31367991	GM12878	blood:	n/a	n/a
14	TCF12	chr6:31367224-31367887	ECC-1	luminal epithelium:	n/a	chr6:31367752-31367762
15	RAD21	chr6:31367177-31368039	HCT-116	colon:	n/a	n/a
16	MAX	chr6:31367324-31368496	SK-N-SH	brain:	n/a	chr6:31367798-31367808
17	RAD21	chr6:31367178-31368037	HCT-116	colon:	n/a	n/a
18	ZNF384	chr6:31367215-31367722	K562	blood:	n/a	n/a
19	POLR2A	chr6:31367285-31368928	SK-N-SH	brain:	n/a	n/a
20	RAD21	chr6:31367312-31367745	A549	lung:	n/a	n/a
21	CTCF	chr6:31367328-31367853	HepG2	liver:	n/a	chr6:31367505-31367521 chr6:31367685-31367698
22	RAD21	chr6:31367345-31367732	H1-hESC	embryonic stem cell:	n/a	n/a
23	TCF12	chr6:31367278-31368222	ECC-1	luminal epithelium:	n/a	chr6:31367752-31367762 chr6:31368026-31368035
24	CTCF	chr6:31367320-31367470	RPTEC	kidney:	n/a	n/a
25	CTCF	chr6:31367308-31367837	IMR90	lung:	n/a	chr6:31367505-31367521 chr6:31367685-31367698
26	SP1	chr6:31367309-31368136	HepG2	liver:	n/a	chr6:31368051-31368064 chr6:31367797-31367809 chr6:31368056-31368065 chr6:31367798-31367808 chr6:31367722-31367733
27	ZNF143	chr6:31367359-31367776	K562	blood:	n/a	chr6:31367539-31367557
28	YY1	chr6:31367289-31368770	HepG2	liver:	n/a	chr6:31367688-31367702
29	TAF1	chr6:31367340-31368774	K562	blood:	n/a	n/a
30	SIN3AK20	chr6:31367242-31368633	PANC-1	pancreas:	n/a	n/a
31	BHLHE40	chr6:31367365-31367742	GM12878	blood:	n/a	chr6:31367540-31367556 chr6:31367478-31367494
32	NANOG	chr6:31367359-31368022	H1-hESC	embryonic stem cell:	n/a	n/a
33	YY1	chr6:31367359-31367986	GM12892	blood:	n/a	chr6:31367688-31367702
34	YY1	chr6:31367349-31368028	ECC-1	luminal epithelium:	n/a	chr6:31367688-31367702
35	HA-E2F1	chr6:31367318-31368589	MCF-7	breast:	n/a	n/a
36	POLR2A	chr6:31367258-31368089	PFSK-1	brain:	n/a	n/a
37	YY1	chr6:31367306-31367908	GM12878	blood:	n/a	chr6:31367688-31367702
38	GABPA	chr6:31367332-31367712	H1-hESC	embryonic stem cell:	n/a	chr6:31367688-31367697
39	ARID3A	chr6:31367352-31367980	HepG2	liver:	n/a	n/a
40	POLR2A	chr6:31367312-31368711	HepG2	liver:	n/a	n/a
41	ELF1	chr6:31367335-31368160	K562	blood:	n/a	chr6:31367754-31367767
42	HDAC2	chr6:31367321-31368139	HepG2	liver:	n/a	n/a
43	CTCF	chr6:31367339-31367684	SK-N-SH_RA	brain:	n/a	chr6:31367505-31367521
44	POLR2A	chr6:31367285-31368068	HCT-116	colon:	n/a	n/a
45	REST	chr6:31367354-31367971	K562	blood:	n/a	chr6:31367746-31367759 chr6:31367846-31367856 chr6:31367543-31367553 chr6:31367844-31367858
46	MAX	chr6:31367250-31368185	A549	lung:	n/a	chr6:31367798-31367808
47	CTCF	chr6:31367320-31367745	T-47D	breast:	n/a	chr6:31367505-31367521 chr6:31367685-31367698
48	ELF1	chr6:31367292-31368045	HepG2	liver:	n/a	chr6:31367754-31367767
49	YY1	chr6:31367360-31367965	K562	blood:	n/a	chr6:31367688-31367702
50	IRF1	chr6:31367353-31367962	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:31367226..31368006-chr6:31409111..31410121,3	MCF-7	breast:
2	chr6:31366413..31368855-chr6:31409178..31411758,2	MCF-7	breast:
3	chr6:31365716..31368807-chr6:31460300..31464467,6	K562	blood:
4	chr6:31359042..31360861-chr6:31365962..31368403,2	K562	blood:
5	chr6:31367191..31369199-chr6:31408667..31411117,2	MCF-7	breast:
6	chr6:31122395..31124246-chr6:31365438..31367824,2	K562	blood:
7	chr6:31367340..31368060-chr6:31410049..31410967,4	MCF-7	breast:
8	chr6:29944380..29945521-chr6:31367336..31368390,3	HCT-116	colon:
9	chr6:31122395..31124260-chr6:31365438..31367506,2	K562	blood:
10	chr6:31365633..31368446-chr6:31455455..31458235,2	K562	blood:
11	chr6:31367361..31367866-chr6:31461272..31461916,4	MCF-7	breast:
12	chr6:31366610..31369320-chr6:31369483..31372950,5	MCF-7	breast:
13	chr6:31367027..31368428-chr6:31409089..31409999,7	MCF-7	breast:
14	chr6:31366040..31368072-chr6:31465368..31467690,2	K562	blood:
15	chr6:31365846..31369030-chr6:31460300..31464467,7	K562	blood:
16	chr6:31366911..31367961-chr6:31409103..31409723,6	K562	blood:

Variant related genes	Relation type
MICA	TF binding region
HCP5	TF binding region
ENSG00000272221	TF binding region
ENSG00000204625	Chromatin interaction
ENSG00000204516	Chromatin interaction
ENSG00000230174	Chromatin interaction
ENSG00000199332	Chromatin interaction
ENSG00000204536	Chromatin interaction
ENSG00000204520	Chromatin interaction

Extended variants
information (count: 326 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs2395485	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2395486	0.89[EUR][1000 genomes]
rs2395487	0.85[EUR][1000 genomes]
rs2428474	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2428475	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2523452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2523453	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2523456	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2523458	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2523459	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2523461	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2523463	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2523465	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2523467	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2523473	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2523474	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2523475	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2596483	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2596538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28366131	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs28366132	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28366133	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28366136	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28366137	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28366138	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28366139	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28366140	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28366144	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2844517	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2844521	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844522	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2844525	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2844526	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905709	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6906175	0.82[ASN][1000 genomes]
rs9501387	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv1029569	chr6:31104401-31412740	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
10	nsv538174	chr6:31104401-31412740	Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
11	nsv1015890	chr6:31131121-31449207	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
12	nsv538176	chr6:31131121-31449207	Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
13	nsv1015903	chr6:31162849-31412740	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
14	nsv538178	chr6:31162849-31412740	Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
15	nsv1031682	chr6:31162849-31449207	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
16	nsv538179	chr6:31162849-31449207	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
17	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
18	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
19	nsv538180	chr6:31206639-31386279	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	42 gene(s)	inside rSNPs	diseases
20	nsv1029142	chr6:31206639-31449207	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
21	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
22	nsv1029526	chr6:31256354-31449207	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	42 gene(s)	inside rSNPs	diseases
23	nsv538181	chr6:31256354-31449207	Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	42 gene(s)	inside rSNPs	diseases
24	nsv1029508	chr6:31269776-31445712	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
25	nsv538182	chr6:31269776-31445712	Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
26	esv1830805	chr6:31269777-31450100	Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
27	esv33563	chr6:31275505-31453668	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
28	nsv601570	chr6:31276751-31451476	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
29	nsv538184	chr6:31277798-31445712	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
30	nsv1029678	chr6:31279535-31449207	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
31	nsv538185	chr6:31279535-31449207	Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
32	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
33	nsv601608	chr6:31280101-31389784	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
34	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
35	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
36	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
37	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
38	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
39	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
40	nsv601660	chr6:31281770-31451476	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
41	nsv538186	chr6:31282952-31445712	Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
42	nsv869722	chr6:31287397-31461074	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
43	nsv884319	chr6:31308988-31430721	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer 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 miRNA	37 gene(s)	inside rSNPs	diseases
44	esv3491002	chr6:31310527-31398831	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
45	esv3491003	chr6:31310527-31398831	Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
46	esv1828258	chr6:31316612-31456605	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
47	nsv538187	chr6:31325961-31445712	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
48	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
49	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
50	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2251731	LOC285835	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31345800-31367400	Weak transcription	Gastric	stomach
2	chr6:31350200-31367400	Weak transcription	Aorta	Aorta
3	chr6:31352000-31367400	Weak transcription	Pancreas	Pancrea
4	chr6:31360200-31367400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:31362000-31367400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:31363200-31367400	Weak transcription	Esophagus	oesophagus
7	chr6:31363400-31367400	Weak transcription	Lung	lung
8	chr6:31364000-31367600	Weak transcription	Spleen	Spleen
9	chr6:31364200-31367400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr6:31364400-31367400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:31364600-31367400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr6:31364600-31367400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:31365200-31367400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:31365200-31367400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:31365200-31367600	Weak transcription	Fetal Heart	heart
16	chr6:31365200-31369400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:31366400-31367400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:31366400-31367400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr6:31366600-31368000	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr6:31366600-31368600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:31366600-31369000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:31366600-31369600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr6:31366600-31370200	Active TSS	NHLF	lung
24	chr6:31366800-31367400	Enhancers	Primary B cells from peripheral blood	blood
25	chr6:31366800-31367400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:31366800-31367400	Active TSS	Right Atrium	heart
27	chr6:31366800-31368800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr6:31366800-31368800	Active TSS	Stomach Smooth Muscle	stomach
29	chr6:31366800-31369200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:31366800-31369400	Active TSS	A549	lung
31	chr6:31366800-31369600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:31366800-31369600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:31366800-31369600	Active TSS	Muscle Satellite Cultured Cells	--
34	chr6:31366800-31369600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:31366800-31369600	Active TSS	NHDF-Ad	bronchial
36	chr6:31366800-31370000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:31367000-31367400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:31367000-31367600	Active TSS	HepG2	liver
39	chr6:31367000-31367800	Active TSS	H1 Cell Line	embryonic stem cell
40	chr6:31367000-31368000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr6:31367000-31368800	Active TSS	Adipose Nuclei	Adipose
42	chr6:31367000-31368800	Active TSS	Liver	Liver
43	chr6:31367000-31368800	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr6:31367000-31368800	Active TSS	Hela-S3	cervix
45	chr6:31367000-31368800	Active TSS	K562	blood
46	chr6:31367000-31368800	Active TSS	NHEK	skin
47	chr6:31367000-31368800	Active TSS	Osteobl	bone
48	chr6:31367000-31369000	Active TSS	NH-A	brain
49	chr6:31367000-31369200	Active TSS	H9 Cell Line	embryonic stem cell
50	chr6:31367000-31369200	Active TSS	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links