Variant report

Variant	rs12908427
Chromosome Location	chr15:58775613-58775614
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58769989..58771899-chr15:58773674..58776005,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10518978	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11634902	0.93[ASN][1000 genomes]
rs12591216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12591624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12592407	0.96[ASN][1000 genomes]
rs12593736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12593880	0.93[ASN][1000 genomes]
rs12594222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12595191	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12900891	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12902119	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12903955	0.95[ASN][1000 genomes]
rs12904507	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12906459	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12910028	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12910602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12913605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16940338	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17190580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17190587	0.93[ASN][1000 genomes]
rs2414581	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs28478642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28713618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2899630	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34053638	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34225834	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34297592	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34570549	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34577128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34744603	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35633916	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35732576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35771822	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35795657	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4775053	0.93[ASN][1000 genomes]
rs6494009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6494010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6494011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71478667	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71478668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71478670	1.00[ASN][1000 genomes]
rs71478671	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71478672	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7162384	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7162603	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7165752	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7169744	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7172556	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7174539	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8029592	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8029837	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8041525	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats 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 target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1047048	chr15:58701400-58784800	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv457173	chr15:58731567-58779039	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv569600	chr15:58731567-58779039	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1043041	chr15:58744505-58876327	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv904268	chr15:58763678-58803225	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv3388606	chr15:58774960-58779258	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58769000-58778600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr15:58769400-58778800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:58769600-58780000	Weak transcription	Right Atrium	heart
4	chr15:58770000-58777200	Weak transcription	K562	blood
5	chr15:58770200-58776400	Weak transcription	Right Ventricle	heart
6	chr15:58770200-58776400	Weak transcription	Spleen	Spleen
7	chr15:58770200-58776600	Weak transcription	Thymus	Thymus
8	chr15:58770400-58776400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:58770400-58778400	Weak transcription	Pancreas	Pancrea
10	chr15:58770400-58779800	Weak transcription	Left Ventricle	heart
11	chr15:58772400-58779800	Weak transcription	Fetal Kidney	kidney
12	chr15:58774600-58780200	Enhancers	HSMMtube	muscle
13	chr15:58774800-58776200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr15:58774800-58777000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr15:58775000-58775800	Enhancers	Fetal Muscle Trunk	muscle
16	chr15:58775000-58777200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr15:58775000-58780600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr15:58775400-58775800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr15:58775400-58775800	Enhancers	Fetal Muscle Leg	muscle
20	chr15:58775400-58776400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr15:58775400-58776400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr15:58775400-58776400	Enhancers	Fetal Heart	heart
23	chr15:58775400-58776800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:58775400-58777000	Enhancers	Primary T cells from cord blood	blood
25	chr15:58775400-58777600	Enhancers	HSMM	muscle
26	chr15:58775400-58778600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr15:58775400-58779200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:58775600-58776600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr15:58775600-58776600	Enhancers	Fetal Lung	lung
30	chr15:58775600-58776800	Enhancers	Dnd41	blood
31	chr15:58775600-58777000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:58775600-58778200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:58775600-58778200	Enhancers	Lung	lung
34	chr15:58775600-58780400	Enhancers	Fetal Thymus	thymus
35	chr15:58775600-58780800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr15:58775600-58781000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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