Variant report

Variant	rs1000639
Chromosome Location	chr8:50980407-50980408
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 186 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:178)

rs_ID	r²[population]
rs1000638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093604	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs10094935	0.86[JPT][hapmap]
rs10095985	0.81[JPT][hapmap]
rs10096871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10098057	0.95[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs10109835	0.88[JPT][hapmap]
rs10504094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504096	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10504098	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10504099	0.87[JPT][hapmap]
rs10808817	0.87[JPT][hapmap]
rs10957764	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10957802	0.87[EUR][1000 genomes]
rs10957813	0.91[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs10957814	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs10957828	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs10957853	0.92[JPT][hapmap]
rs11775978	0.86[ASN][1000 genomes]
rs11778998	0.91[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs11780070	0.87[ASN][1000 genomes]
rs11781074	1.00[CEU][hapmap]
rs11781981	0.89[ASN][1000 genomes]
rs11786703	0.89[ASN][1000 genomes]
rs11986160	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap]
rs11991940	0.91[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs12056425	0.87[JPT][hapmap]
rs12056426	0.93[JPT][hapmap]
rs12542067	0.95[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap]
rs12544631	0.87[JPT][hapmap]
rs12544986	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12545107	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12545263	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12545915	0.86[JPT][hapmap]
rs13249415	0.86[JPT][hapmap]
rs13251587	0.86[JPT][hapmap]
rs13251700	0.89[EUR][1000 genomes]
rs13252320	0.92[JPT][hapmap]
rs13260265	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap]
rs13270234	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs13271983	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13275607	0.85[JPT][hapmap]
rs13277538	0.87[ASN][1000 genomes]
rs13280089	0.87[EUR][1000 genomes]
rs13282956	0.93[JPT][hapmap]
rs13340639	0.91[JPT][hapmap]
rs1349317	0.87[JPT][hapmap]
rs1450127	0.81[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs1597426	0.86[JPT][hapmap]
rs1597428	0.87[JPT][hapmap]
rs1597430	0.86[JPT][hapmap]
rs16914250	0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs16914346	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap]
rs16914376	0.87[ASN][1000 genomes]
rs16914459	0.89[ASN][1000 genomes]
rs17686196	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs17758599	0.81[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs1901055	0.87[JPT][hapmap]
rs1903311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1906070	0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs203612	0.90[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs203616	0.90[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs203621	0.85[ASN][1000 genomes]
rs203623	0.84[ASN][1000 genomes]
rs203624	0.81[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs203626	0.81[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs203632	0.81[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs203908	0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs203925	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs203928	0.88[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs203932	0.81[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs203933	0.91[ASN][1000 genomes]
rs203935	0.88[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs203936	0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs203937	0.93[ASN][1000 genomes]
rs203938	0.93[ASN][1000 genomes]
rs203939	0.81[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs203940	0.90[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs203947	0.81[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs203949	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs203960	0.81[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs2084590	0.81[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs2084591	0.80[ASN][1000 genomes]
rs2106156	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2157736	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2385812	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs34047312	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34641787	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34722367	0.87[ASN][1000 genomes]
rs34908792	0.95[EUR][1000 genomes]
rs34997857	0.89[ASN][1000 genomes]
rs35093761	0.96[EUR][1000 genomes]
rs35122483	1.00[EUR][1000 genomes]
rs35418717	0.86[EUR][1000 genomes]
rs35989044	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36006902	0.87[ASN][1000 genomes]
rs420489	0.90[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs4330704	0.85[JPT][hapmap]
rs4398931	0.87[JPT][hapmap]
rs4448284	0.86[JPT][hapmap]
rs4543555	0.87[JPT][hapmap]
rs4633068	0.87[JPT][hapmap]
rs4873126	0.89[ASN][1000 genomes]
rs4873127	0.89[ASN][1000 genomes]
rs4873128	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs4873129	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs4873131	0.80[ASN][1000 genomes]
rs4873132	0.81[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs4873133	0.81[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs4873134	0.81[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs4873135	0.81[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs4873137	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs4873405	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873407	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873408	0.95[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs4873411	0.91[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap]
rs4873412	0.86[ASN][1000 genomes]
rs4873413	0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs4873414	0.87[ASN][1000 genomes]
rs4873415	0.91[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs4873416	0.87[ASN][1000 genomes]
rs4873417	0.91[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs4873418	0.91[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs4873419	0.91[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs4873420	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs4873421	0.91[CEU][hapmap];0.87[ASN][1000 genomes]
rs4873426	0.80[ASN][1000 genomes]
rs4873427	0.80[ASN][1000 genomes]
rs4873428	0.81[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs4873431	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs4873433	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs4873442	0.87[JPT][hapmap]
rs55889053	0.88[ASN][1000 genomes]
rs56007637	0.90[ASN][1000 genomes]
rs56413317	0.86[EUR][1000 genomes]
rs56725	0.90[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs62515375	0.91[ASN][1000 genomes]
rs62516672	0.91[ASN][1000 genomes]
rs62516685	0.87[ASN][1000 genomes]
rs62516686	0.87[EUR][1000 genomes]
rs62516687	0.87[ASN][1000 genomes]
rs6472947	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6981805	0.87[JPT][hapmap]
rs6983498	0.81[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs6986896	0.91[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs6988843	0.95[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs6991753	0.81[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs6996646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6999627	0.86[JPT][hapmap]
rs6999722	0.89[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap]
rs6999870	0.91[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap]
rs7001686	0.91[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs7002235	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs7004088	0.91[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap]
rs7010037	0.87[ASN][1000 genomes]
rs7013247	0.87[JPT][hapmap]
rs7013995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7016161	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs7017642	0.87[JPT][hapmap]
rs7018082	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs721441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7386487	0.85[ASN][1000 genomes]
rs7464491	0.86[JPT][hapmap]
rs7817040	0.80[ASN][1000 genomes]
rs7817638	0.80[ASN][1000 genomes]
rs7820951	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7821189	0.87[JPT][hapmap]
rs7824938	0.84[ASN][1000 genomes]
rs7825053	0.84[ASN][1000 genomes]
rs7825063	0.91[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs7835849	0.80[ASN][1000 genomes]
rs870754	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs884561	0.91[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs898520	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs9298278	0.95[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap]
rs9298279	0.95[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap]
rs987356	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1022115	chr8:50864995-50981944	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2758621	chr8:50886593-51137995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv611312	chr8:50930075-51011122	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv890871	chr8:50936174-51040022	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv890872	chr8:50946702-51032813	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50979200-50981400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:50979200-50983400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr8:50979600-50981400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:50979600-50981800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:50979600-50982600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:50979800-50981800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:50979800-50982600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:50980000-50980600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:50980200-50981000	Enhancers	HMEC	breast
10	chr8:50980200-50981200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:50980200-50983400	Enhancers	Brain Germinal Matrix	brain
12	chr8:50980400-50981000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:50980400-50981200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr8:50980400-50982200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:50980400-50982600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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