Variant report

Variant	rs6472947
Chromosome Location	chr8:51039573-51039574
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:51030711..51032424-chr8:51036929..51039858,2	MCF-7	breast:

Extended variants
information (count: 144 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs1000638	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1000639	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10096871	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10098057	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10504094	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10504096	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10504098	0.91[ASN][1000 genomes]
rs10957764	0.91[EUR][1000 genomes]
rs10957802	0.92[EUR][1000 genomes]
rs10957813	0.91[ASN][1000 genomes]
rs10957814	0.91[ASN][1000 genomes]
rs11775978	0.90[ASN][1000 genomes]
rs11778998	0.88[ASN][1000 genomes]
rs11780070	0.91[ASN][1000 genomes]
rs11781981	0.88[ASN][1000 genomes]
rs11786703	0.88[ASN][1000 genomes]
rs11989367	0.85[ASN][1000 genomes]
rs11991940	0.91[ASN][1000 genomes]
rs12542067	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12545107	0.91[EUR][1000 genomes]
rs12545263	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13251700	0.97[EUR][1000 genomes]
rs13270234	0.98[EUR][1000 genomes]
rs13271983	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13277538	0.91[ASN][1000 genomes]
rs13280089	0.92[EUR][1000 genomes]
rs1450127	0.89[ASN][1000 genomes]
rs149992	0.86[ASN][1000 genomes]
rs16914376	0.91[ASN][1000 genomes]
rs16914459	0.88[ASN][1000 genomes]
rs17686196	0.90[EUR][1000 genomes]
rs17758599	0.91[ASN][1000 genomes]
rs1903311	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs203612	0.92[ASN][1000 genomes]
rs203616	0.92[ASN][1000 genomes]
rs203621	0.94[ASN][1000 genomes]
rs203623	0.92[ASN][1000 genomes]
rs203624	0.96[ASN][1000 genomes]
rs203626	0.92[ASN][1000 genomes]
rs203632	0.95[ASN][1000 genomes]
rs203908	0.90[ASN][1000 genomes]
rs203928	0.88[ASN][1000 genomes]
rs203932	0.92[ASN][1000 genomes]
rs203933	0.92[ASN][1000 genomes]
rs203935	0.90[ASN][1000 genomes]
rs203936	0.92[ASN][1000 genomes]
rs203937	0.90[ASN][1000 genomes]
rs203938	0.90[ASN][1000 genomes]
rs203939	0.92[ASN][1000 genomes]
rs203940	0.90[ASN][1000 genomes]
rs203947	0.91[ASN][1000 genomes]
rs203949	0.88[ASN][1000 genomes]
rs203960	0.92[ASN][1000 genomes]
rs2084590	0.89[ASN][1000 genomes]
rs2084591	0.89[ASN][1000 genomes]
rs2106156	0.91[EUR][1000 genomes]
rs2157736	0.91[EUR][1000 genomes]
rs34047312	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34641787	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34722367	0.91[ASN][1000 genomes]
rs34908792	0.96[EUR][1000 genomes]
rs34997857	0.88[ASN][1000 genomes]
rs35093761	0.87[EUR][1000 genomes]
rs35122483	0.91[EUR][1000 genomes]
rs35418717	0.91[EUR][1000 genomes]
rs35989044	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36006902	0.91[ASN][1000 genomes]
rs420489	0.92[ASN][1000 genomes]
rs4448283	0.82[ASN][1000 genomes]
rs4873126	0.88[ASN][1000 genomes]
rs4873127	0.88[ASN][1000 genomes]
rs4873128	0.91[ASN][1000 genomes]
rs4873129	0.91[ASN][1000 genomes]
rs4873131	0.89[ASN][1000 genomes]
rs4873132	0.89[ASN][1000 genomes]
rs4873133	0.89[ASN][1000 genomes]
rs4873134	0.89[ASN][1000 genomes]
rs4873135	0.89[ASN][1000 genomes]
rs4873405	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873406	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4873407	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4873408	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4873412	0.90[ASN][1000 genomes]
rs4873413	0.91[ASN][1000 genomes]
rs4873414	0.91[ASN][1000 genomes]
rs4873415	0.88[ASN][1000 genomes]
rs4873416	0.91[ASN][1000 genomes]
rs4873417	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4873418	0.91[ASN][1000 genomes]
rs4873419	0.91[ASN][1000 genomes]
rs4873420	0.91[ASN][1000 genomes]
rs4873421	0.91[ASN][1000 genomes]
rs4873426	0.89[ASN][1000 genomes]
rs4873427	0.89[ASN][1000 genomes]
rs4873428	0.89[ASN][1000 genomes]
rs56007637	0.88[ASN][1000 genomes]
rs56413317	0.91[EUR][1000 genomes]
rs56725	0.92[ASN][1000 genomes]
rs62515375	0.92[ASN][1000 genomes]
rs62516672	0.90[ASN][1000 genomes]
rs62516685	0.91[ASN][1000 genomes]
rs62516686	0.92[EUR][1000 genomes]
rs62516687	0.91[ASN][1000 genomes]
rs6983498	0.89[ASN][1000 genomes]
rs6986896	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6988843	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6991753	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6996646	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7001686	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7002235	0.91[ASN][1000 genomes]
rs7010037	0.91[ASN][1000 genomes]
rs7013995	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7016161	0.91[ASN][1000 genomes]
rs7018082	0.83[ASN][1000 genomes]
rs721441	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7386487	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7817040	0.89[ASN][1000 genomes]
rs7817638	0.89[ASN][1000 genomes]
rs7820951	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7824938	0.88[ASN][1000 genomes]
rs7825053	0.88[ASN][1000 genomes]
rs7825063	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7835849	0.89[ASN][1000 genomes]
rs870754	0.88[ASN][1000 genomes]
rs884561	0.91[ASN][1000 genomes]
rs898520	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
4	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
5	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
6	nsv6184	chr8:50997525-51060432	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv539606	chr8:51006600-51057478	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1023923	chr8:51020615-51039772	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1829361	chr8:51021638-51101126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv508509	chr8:51021837-51041388	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1034545	chr8:51027285-51039772	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv26	chr8:51027781-51044881	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv437619	chr8:51029371-51039712	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv611326	chr8:51031221-51042156	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1027998	chr8:51032883-51084279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv539607	chr8:51032883-51084279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv3481039	chr8:51034799-51039997	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3481040	chr8:51034799-51039997	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51018400-51039600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51032200-51046600	Weak transcription	Fetal Brain Male	brain
3	chr8:51037800-51046800	Weak transcription	Brain Germinal Matrix	brain
4	chr8:51038000-51047600	Weak transcription	Right Atrium	heart
5	chr8:51038200-51040400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:51038800-51040000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:51038800-51040400	Enhancers	Osteobl	bone
8	chr8:51039000-51039800	Weak transcription	NH-A	brain
9	chr8:51039200-51040000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:51039400-51039800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr8:51039400-51040200	Enhancers	Fetal Intestine Large	intestine
12	chr8:51039400-51040600	Enhancers	Hela-S3	cervix
13	chr8:51039400-51040800	Enhancers	Cortex derived primary cultured neurospheres	brain

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