Variant report

Variant	rs11731597
Chromosome Location	chr4:10075485-10075486
allele	C/T
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	POLR2A	chr4:10075391-10075519	K562	blood:	n/a	n/a
2	POLR2A	chr4:10075480-10075969	GM12891	blood:	n/a	n/a
3	POLR2A	chr4:10073644-10090870	GM12892	blood:	n/a	n/a
4	POLR2A	chr4:10075476-10078816	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:10073815-10075533	U87	brain:	n/a	n/a
6	POLR2A	chr4:10070923-10105204	HepG2	liver:	n/a	n/a
7	POLR2A	chr4:10075433-10075519	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr4:10075030-10078472	GM12891	blood:	n/a	n/a
9	POLR2A	chr4:10074947-10105172	GM12892	blood:	n/a	n/a
10	POLR2A	chr4:10075117-10083183	GM12878	blood:	n/a	n/a
11	POLR2A	chr4:10073595-10083249	GM12892	blood:	n/a	n/a
12	POLR2A	chr4:10071946-10090213	K562	blood:	n/a	n/a
13	POLR2A	chr4:10075125-10121566	GM12878	blood:	n/a	n/a
14	POLR2A	chr4:10075084-10078657	GM12891	blood:	n/a	n/a
15	PML	chr4:10074867-10076763	K562	blood:	n/a	n/a
16	POLR2A	chr4:10073748-10078350	U87	brain:	n/a	n/a
17	POLR2A	chr4:10073697-10076914	GM12892	blood:	n/a	n/a
18	POLR2A	chr4:10075460-10078357	GM12891	blood:	n/a	n/a
19	POLR2A	chr4:10073673-10078817	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:10075241..10078261-chr4:10115554..10118749,4	MCF-7	breast:
2	chr4:10073732..10076710-chr4:10079365..10080876,2	K562	blood:

Variant related genes	Relation type
ENSG00000261490	TF binding region
ENSG00000264931	Chromatin interaction
ENSG00000223086	Chromatin interaction
ENSG00000071127	Chromatin interaction

Extended variants
information (count: 151 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10001106	0.84[ASN][1000 genomes]
rs10010656	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1001218	0.81[JPT][hapmap]
rs10017447	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10023177	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs10024152	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10025456	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs10029208	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10030776	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10030782	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10033955	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10516200	0.93[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[LWK][hapmap];0.92[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10939663	0.80[CEU][hapmap]
rs10939690	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10939766	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10939801	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs11721530	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap]
rs11722345	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11724641	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs11727366	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs11737347	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11947517	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs12500400	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12500653	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12503195	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12506004	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12646099	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13102085	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13152337	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16868313	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16868326	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16894579	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs16894893	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs1860896	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2080076	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs2098234	0.91[CHB][hapmap]
rs2159864	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2192101	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2215691	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap]
rs2241465	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2241470	0.93[ASW][hapmap];1.00[CEU][hapmap];0.91[LWK][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2241473	0.80[CEU][hapmap]
rs2241475	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2241476	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2241477	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2241478	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2241480	0.85[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[LWK][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2241486	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs231	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2868414	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2868416	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2868420	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs34893238	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35150828	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3756227	0.80[CEU][hapmap]
rs3756229	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3775930	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3822248	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3822249	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4273473	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap]
rs4461524	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4467562	0.86[ASN][1000 genomes]
rs4522862	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4697718	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs4697719	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs4697721	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs4697727	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap]
rs4697728	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4697729	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4697730	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4697731	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4697732	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4697941	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs4697952	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs4697954	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs4697956	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs4697958	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4697960	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4697964	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4697965	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap]
rs4697966	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap]
rs4697968	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4697971	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4697977	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs4697986	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6449342	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6449355	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs6812780	0.87[CHB][hapmap]
rs6813385	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs6826450	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs6830786	0.85[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6853056	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6855489	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs6858209	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs723663	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap]
rs734122	0.93[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[LWK][hapmap];0.97[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs759031	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7657551	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap]
rs7663448	0.83[EUR][1000 genomes]
rs7670376	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7675945	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs7685806	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs874079	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs887727	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs887728	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs887731	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs917823	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs917824	0.89[CHB][hapmap]
rs917825	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs9283699	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs956311	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs956312	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9990501	0.91[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533218	chr4:9371016-10252290	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	74 gene(s)	inside rSNPs	diseases
2	nsv530090	chr4:9383695-10165033	Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	nsv1014216	chr4:9713612-10223836	Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
4	nsv1010249	chr4:9716101-10086188	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv878681	chr4:9802853-10397327	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
6	nsv997941	chr4:9805223-10493388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
7	nsv1008649	chr4:9805223-10589802	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
8	nsv1000587	chr4:9805223-10610752	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
9	nsv537022	chr4:9805223-10610752	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
10	nsv1003454	chr4:9805223-10710990	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
11	nsv537023	chr4:9805223-10710990	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
12	nsv1004801	chr4:9814720-10674528	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
13	nsv537024	chr4:9814720-10674528	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
14	nsv931483	chr4:9814721-10716463	Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	nsv537026	chr4:9903566-10262258	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
16	nsv1009972	chr4:9903566-10710990	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
17	nsv537027	chr4:9903566-10710990	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
18	esv2752052	chr4:9911872-10313111	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
19	nsv1010620	chr4:9937123-10686682	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
20	nsv530280	chr4:9947818-10940041	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
21	nsv532706	chr4:9948018-10451450	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
22	nsv1013022	chr4:9961220-10230042	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
23	nsv537028	chr4:9961220-10230042	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
24	nsv537029	chr4:9961220-10262258	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
25	nsv878691	chr4:9966477-10418078	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
26	nsv1013487	chr4:9972011-10320963	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
27	nsv829857	chr4:9982514-10155835	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
28	nsv469621	chr4:9987670-10142287	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
29	nsv482719	chr4:9987670-10142287	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
30	nsv1008067	chr4:10004664-10262258	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
31	nsv537030	chr4:10004664-10262258	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
32	nsv869057	chr4:10013411-10875454	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
33	nsv537031	chr4:10040713-10262258	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
34	nsv997936	chr4:10040713-11009045	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
35	nsv878692	chr4:10042160-10099333	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
36	nsv428438	chr4:10058226-10273779	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
37	nsv537032	chr4:10069805-10262258	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
38	nsv537033	chr4:10069805-10297561	Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11731597	WDR1	cis	cerebellum	SCAN
rs11731597	SLC2A9	cis	Whole Blood	GTEx
rs11731597	SLC2A9	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10051400-10076200	Weak transcription	Small Intestine	intestine
2	chr4:10064000-10075600	Weak transcription	Colonic Mucosa	Colon
3	chr4:10064600-10093800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:10065200-10094000	Strong transcription	NHLF	lung
5	chr4:10065400-10079200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:10065800-10075600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:10065800-10075600	Weak transcription	Liver	Liver
8	chr4:10065800-10075600	Weak transcription	Fetal Heart	heart
9	chr4:10065800-10076200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:10065800-10076600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:10065800-10079000	Weak transcription	Stomach Mucosa	stomach
12	chr4:10066000-10075600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:10066000-10094600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:10066200-10079600	Strong transcription	Stomach Smooth Muscle	stomach
15	chr4:10066600-10076600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:10067000-10093800	Strong transcription	Osteobl	bone
17	chr4:10067600-10102200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:10067800-10076600	Strong transcription	HSMM	muscle
19	chr4:10068600-10076400	Weak transcription	Brain Angular Gyrus	brain
20	chr4:10068800-10076200	Weak transcription	Brain Substantia Nigra	brain
21	chr4:10069000-10075600	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:10069000-10075800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:10069200-10075600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:10069200-10093200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:10069400-10076200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:10070400-10076200	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr4:10070600-10081600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:10071000-10076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:10071200-10075600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:10071200-10076400	Strong transcription	NH-A	brain
31	chr4:10071400-10075600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:10071400-10075800	Weak transcription	Psoas Muscle	Psoas
33	chr4:10071600-10075800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:10071600-10094200	Strong transcription	NHDF-Ad	bronchial
35	chr4:10072000-10092400	Strong transcription	Primary T cells from cord blood	blood
36	chr4:10072200-10092800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:10072400-10094000	Weak transcription	Fetal Brain Male	brain
38	chr4:10072400-10097000	Strong transcription	A549	lung
39	chr4:10072600-10079400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr4:10072600-10094600	Strong transcription	Primary B cells from cord blood	blood
41	chr4:10072800-10082200	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr4:10072800-10091200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:10073200-10080800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:10073600-10076600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:10073600-10083800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:10073600-10089200	Strong transcription	HMEC	breast
47	chr4:10073600-10093800	Strong transcription	Fetal Stomach	stomach
48	chr4:10073600-10094600	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:10073600-10094800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr4:10073800-10076400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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