Variant report

Variant	rs57887591
Chromosome Location	chr15:58795990-58795991
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	chr15:58791633..58793802-chr15:58794935..58797234,3	K562	blood:
2	chr15:58790757..58793256-chr15:58794935..58797026,2	K562	blood:

Variant related genes	Relation type
ENSG00000259293	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11071384	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12592017	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12900448	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1869145	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1968690	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1979177	0.87[EUR][1000 genomes]
rs2414588	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2899631	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3751543	0.82[AMR][1000 genomes]
rs4581653	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4774301	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4775061	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4775062	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4775063	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4775064	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4775065	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4775066	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4775067	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6494016	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66849766	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7180936	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7183248	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8038906	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58784000-58797800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:58785000-58797200	Weak transcription	Right Ventricle	heart
3	chr15:58791400-58797400	Weak transcription	Esophagus	oesophagus
4	chr15:58791400-58809400	Weak transcription	Spleen	Spleen
5	chr15:58791600-58797000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:58791600-58797600	Weak transcription	HMEC	breast
7	chr15:58792000-58797200	Weak transcription	Right Atrium	heart
8	chr15:58792000-58797400	Weak transcription	NHEK	skin
9	chr15:58792200-58797200	Weak transcription	HSMM	muscle
10	chr15:58792400-58797400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:58792400-58797600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:58792600-58797800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:58792800-58797400	Weak transcription	NHDF-Ad	bronchial
14	chr15:58793400-58803400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:58794600-58797400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr15:58794600-58798000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:58794600-58798000	Weak transcription	Placenta	Placenta
18	chr15:58794800-58796000	Enhancers	Stomach Mucosa	stomach
19	chr15:58795000-58796000	Weak transcription	Fetal Kidney	kidney
20	chr15:58795200-58797400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:58795400-58796200	Enhancers	Thymus	Thymus
22	chr15:58795600-58796000	Enhancers	Left Ventricle	heart
23	chr15:58795600-58796000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr15:58795600-58796400	Enhancers	Liver	Liver
25	chr15:58795600-58797200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr15:58795600-58797600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr15:58795600-58797600	Enhancers	HSMMtube	muscle
28	chr15:58795600-58798200	Weak transcription	Fetal Intestine Large	intestine
29	chr15:58795600-58798200	Weak transcription	Fetal Intestine Small	intestine
30	chr15:58795800-58796000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:58795800-58796000	Enhancers	Lung	lung
32	chr15:58795800-58796000	Enhancers	Psoas Muscle	Psoas
33	chr15:58795800-58796200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr15:58795800-58797800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr15:58795800-58799400	Enhancers	Fetal Thymus	thymus

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