Variant report

Variant	rs4235483
Chromosome Location	chr5:60188222-60188223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 188 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs10062465	0.86[ASN][1000 genomes]
rs10064187	0.94[ASN][1000 genomes]
rs10076937	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1020371	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1038144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10471502	0.86[ASN][1000 genomes]
rs11744756	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11957772	0.86[ASN][1000 genomes]
rs12518865	0.86[ASN][1000 genomes]
rs12522154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13155076	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13168191	0.86[ASN][1000 genomes]
rs13359074	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1382914	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs158564	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs158570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158571	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs158572	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs158696	0.80[ASN][1000 genomes]
rs158697	0.80[ASN][1000 genomes]
rs158699	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs158700	0.80[ASN][1000 genomes]
rs158914	0.83[ASW][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs158915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs158918	0.83[ASN][1000 genomes]
rs158919	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs158921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs158922	0.89[ASN][1000 genomes]
rs158923	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs158924	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs158927	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs158929	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs158932	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs158933	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs158934	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs158935	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs158936	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs158937	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs158938	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs159376	0.91[ASN][1000 genomes]
rs159377	0.91[ASN][1000 genomes]
rs159378	0.91[ASN][1000 genomes]
rs159380	0.91[ASN][1000 genomes]
rs162228	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162234	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs162238	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs162241	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs162242	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs162244	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs162247	0.86[EUR][1000 genomes]
rs162248	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs162251	0.86[ASN][1000 genomes]
rs168710	0.86[ASN][1000 genomes]
rs16878547	0.80[ASN][1000 genomes]
rs16878548	0.80[ASN][1000 genomes]
rs169700	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs172348	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs172945	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1820082	0.83[ASN][1000 genomes]
rs182410	0.91[ASN][1000 genomes]
rs1867598	0.94[ASN][1000 genomes]
rs1870682	1.00[CHB][hapmap]
rs187459	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1989653	0.80[ASN][1000 genomes]
rs2080869	0.86[ASN][1000 genomes]
rs2120954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2120955	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2263514	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2409823	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs2409824	1.00[CHB][hapmap]
rs248677	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs248682	0.86[ASN][1000 genomes]
rs248683	0.86[ASN][1000 genomes]
rs248685	0.96[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.86[ASN][1000 genomes]
rs248688	0.86[ASN][1000 genomes]
rs2545475	0.91[ASN][1000 genomes]
rs2545478	0.86[ASN][1000 genomes]
rs2590570	0.89[ASN][1000 genomes]
rs2619890	0.86[ASN][1000 genomes]
rs2619893	0.86[ASN][1000 genomes]
rs2650512	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2650517	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2694518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694528	0.80[ASN][1000 genomes]
rs2694530	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2694531	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28407266	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs290503	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs290506	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs290507	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs290509	0.81[EUR][1000 genomes]
rs290511	0.80[ASN][1000 genomes]
rs290513	0.86[ASN][1000 genomes]
rs290514	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs290515	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs290516	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2950235	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs295531	0.91[ASN][1000 genomes]
rs295533	0.86[ASN][1000 genomes]
rs295551	0.91[ASN][1000 genomes]
rs295559	0.91[ASN][1000 genomes]
rs295560	0.91[ASN][1000 genomes]
rs295561	0.91[ASN][1000 genomes]
rs295563	0.91[ASN][1000 genomes]
rs295564	0.91[ASN][1000 genomes]
rs295566	0.89[ASN][1000 genomes]
rs295573	0.91[ASN][1000 genomes]
rs295578	0.91[ASN][1000 genomes]
rs3101879	0.86[ASN][1000 genomes]
rs3108388	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3117	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs329622	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs329623	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs329624	0.86[ASN][1000 genomes]
rs329625	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs329626	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34591	0.86[ASN][1000 genomes]
rs34592	0.86[ASN][1000 genomes]
rs34593	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34638	0.86[ASN][1000 genomes]
rs34639	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34643	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs34644	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35546392	0.97[ASN][1000 genomes]
rs35617853	0.94[ASN][1000 genomes]
rs35766700	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35948426	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40084	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs40421	0.86[ASN][1000 genomes]
rs4141502	0.86[ASN][1000 genomes]
rs4235484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs42437	0.86[ASN][1000 genomes]
rs4546327	0.94[ASN][1000 genomes]
rs4647102	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647138	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647139	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4647162	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4699963	0.94[ASN][1000 genomes]
rs4700406	0.86[ASN][1000 genomes]
rs56409036	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59292447	0.86[ASN][1000 genomes]
rs59797139	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6862622	0.86[ASN][1000 genomes]
rs6864355	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6868884	0.86[ASN][1000 genomes]
rs6869073	0.91[ASN][1000 genomes]
rs6869454	0.86[ASN][1000 genomes]
rs6878124	0.86[ASN][1000 genomes]
rs6885989	1.00[ASN][1000 genomes]
rs6886481	0.86[ASN][1000 genomes]
rs723276	0.86[ASN][1000 genomes]
rs7712364	0.86[ASN][1000 genomes]
rs7722373	0.88[LWK][hapmap];0.89[YRI][hapmap]
rs921898	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs9291702	0.80[ASN][1000 genomes]
rs929780	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs973304	0.94[ASN][1000 genomes]
rs976080	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9763418	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934153	chr5:60004982-60309751	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv881712	chr5:60116613-60266875	Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv881713	chr5:60116613-60305125	Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv598305	chr5:60116613-60308836	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv881714	chr5:60116613-60313015	Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv881715	chr5:60116613-60356423	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv598306	chr5:60129361-60266875	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv598307	chr5:60129361-60308836	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv881716	chr5:60129361-60313015	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv462199	chr5:60129361-60329624	Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers 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	14 gene(s)	inside rSNPs	diseases
14	nsv598308	chr5:60129361-60329624	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv462200	chr5:60135985-60266875	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv598309	chr5:60135985-60266875	Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv598310	chr5:60135985-60308836	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv598311	chr5:60136626-60308836	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv520871	chr5:60141245-60320157	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv881717	chr5:60141245-60372582	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
21	nsv598312	chr5:60147754-60313015	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	nsv881718	chr5:60147754-60313015	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	esv2762523	chr5:60166108-60229718	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv881719	chr5:60167888-60241826	Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
25	esv1818312	chr5:60169859-60200993	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
26	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4235483	ERCC8	cis	multi-tissue	Pritchard
rs4235483	mimitin	cis	multi-tissue	Pritchard
rs4235483	ELOVL7	cis	parietal	SCAN
rs4235483	NDUFAF2	cis	cerebellum	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60167200-60192600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:60167800-60188400	Weak transcription	Liver	Liver
3	chr5:60167800-60192800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:60167800-60228200	Weak transcription	Psoas Muscle	Psoas
5	chr5:60168400-60191000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:60169800-60191000	Weak transcription	NH-A	brain
7	chr5:60175200-60188400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:60175200-60188400	Weak transcription	Right Ventricle	heart
9	chr5:60175800-60239400	Weak transcription	NHEK	skin
10	chr5:60176400-60220400	Weak transcription	Esophagus	oesophagus
11	chr5:60177000-60190400	Weak transcription	HSMM	muscle
12	chr5:60177200-60188800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:60177200-60189800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:60177200-60239600	Weak transcription	HSMMtube	muscle
15	chr5:60177400-60188600	Weak transcription	A549	lung
16	chr5:60177400-60188800	Weak transcription	Primary B cells from cord blood	blood
17	chr5:60177400-60188800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:60177400-60192600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:60177400-60232800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:60177600-60213000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:60178000-60214200	Weak transcription	Fetal Kidney	kidney
22	chr5:60178200-60188400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:60178400-60188800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:60178600-60188400	Weak transcription	Fetal Intestine Small	intestine
25	chr5:60179000-60191200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr5:60179200-60189000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:60179400-60192800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr5:60179600-60188400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:60179800-60188800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:60179800-60190600	Weak transcription	Fetal Lung	lung
31	chr5:60180000-60188800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:60180600-60188600	Weak transcription	Brain Substantia Nigra	brain
33	chr5:60181000-60188800	Weak transcription	Ovary	ovary
34	chr5:60181000-60188800	Weak transcription	Dnd41	blood
35	chr5:60181000-60218800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr5:60181200-60188800	Weak transcription	Aorta	Aorta
37	chr5:60181200-60189200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:60181600-60230800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:60181800-60211000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr5:60182000-60213000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:60182200-60192400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr5:60182400-60212200	Weak transcription	NHDF-Ad	bronchial
43	chr5:60182600-60188400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:60182800-60196000	Weak transcription	Brain Anterior Caudate	brain
45	chr5:60183000-60188800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr5:60183000-60193800	Weak transcription	HMEC	breast
47	chr5:60183400-60190400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:60183400-60213800	Weak transcription	GM12878-XiMat	blood
49	chr5:60183400-60228000	Weak transcription	Small Intestine	intestine
50	chr5:60183600-60189000	Weak transcription	Fetal Thymus	thymus

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