Variant report

Variant	rs12593721
Chromosome Location	chr15:57777705-57777706
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57777677..57780127-chr15:57786834..57789579,2	K562	blood:
2	chr15:57767857..57770751-chr15:57775808..57778592,2	K562	blood:
3	chr15:57769251..57771985-chr15:57775808..57777973,2	K562	blood:

Variant related genes	Relation type
ENSG00000261489	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10220805	0.93[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10518923	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10775165	0.92[CEU][hapmap];0.84[CHB][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10851614	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10851615	0.86[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10851616	0.92[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes]
rs10851617	0.90[EUR][1000 genomes]
rs11071323	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11071324	0.92[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11071325	0.83[CEU][hapmap];0.83[CHB][hapmap];0.90[EUR][1000 genomes]
rs11071326	0.92[CEU][hapmap];0.84[CHB][hapmap];0.91[EUR][1000 genomes]
rs11630712	0.89[EUR][1000 genomes]
rs11630713	0.92[CEU][hapmap];0.87[CHB][hapmap];0.90[EUR][1000 genomes]
rs11630740	0.89[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.89[EUR][1000 genomes]
rs11631943	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11634739	0.92[CEU][hapmap];0.87[CHB][hapmap];0.89[EUR][1000 genomes]
rs11637220	0.93[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11637265	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12323972	0.93[CEU][hapmap];0.84[CHB][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12437888	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12438901	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12439099	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs12439126	0.89[EUR][1000 genomes]
rs12440928	0.93[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12441608	0.88[EUR][1000 genomes]
rs12442969	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12592077	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12593650	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs12593685	0.90[EUR][1000 genomes]
rs12594455	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12594504	0.93[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12595135	0.92[CEU][hapmap];0.87[CHB][hapmap];0.89[EUR][1000 genomes]
rs12595169	0.93[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1280381	0.96[ASN][1000 genomes]
rs1280387	0.86[CEU][hapmap];0.90[EUR][1000 genomes]
rs1280412	1.00[YRI][hapmap]
rs16977531	0.93[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16977534	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16977558	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs16977560	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs16977561	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs16977567	0.81[EUR][1000 genomes]
rs1980048	0.92[CEU][hapmap];0.83[CHB][hapmap];0.89[EUR][1000 genomes]
rs1994888	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs1994889	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs2087981	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2131740	0.92[CEU][hapmap];0.87[CHB][hapmap];0.90[EUR][1000 genomes]
rs2172613	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[EUR][1000 genomes]
rs2414510	0.86[EUR][1000 genomes]
rs2942043	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4545749	0.92[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs58161678	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58253526	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7164486	0.85[CEU][hapmap];0.87[CHB][hapmap];0.89[EUR][1000 genomes]
rs7496403	0.89[EUR][1000 genomes]
rs932028	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs932029	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs955206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs966693	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2751536	chr15:57627408-57788408	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1038663	chr15:57633015-57786420	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1045486	chr15:57633015-57786592	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv904253	chr15:57635719-57781038	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1038144	chr15:57642065-57778324	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1041346	chr15:57642065-57779035	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1037339	chr15:57642065-57781565	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1054095	chr15:57643653-57778324	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv2761873	chr15:57643653-57779035	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1043074	chr15:57643653-57779035	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1036911	chr15:57643653-57781565	Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1045506	chr15:57644267-57779035	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv516366	chr15:57644267-57781038	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv457170	chr15:57644456-57790436	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv569588	chr15:57644456-57790436	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv1040066	chr15:57647132-57781565	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv457171	chr15:57648012-57782249	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv569589	chr15:57648012-57782249	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv1050158	chr15:57655776-57779035	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv833022	chr15:57657412-57830112	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv1045620	chr15:57680733-57804237	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57749800-57787400	Weak transcription	Ovary	ovary
2	chr15:57770200-57778000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:57770200-57778800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:57770400-57780200	Weak transcription	Fetal Heart	heart
5	chr15:57770800-57778000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:57771000-57778000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr15:57771000-57778000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:57771000-57778600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:57771000-57795200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:57771200-57777800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:57771200-57778000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:57771200-57778200	Weak transcription	Lung	lung
13	chr15:57771400-57777800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr15:57771400-57778200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:57771600-57787400	Weak transcription	Fetal Kidney	kidney
16	chr15:57771600-57787600	Weak transcription	Fetal Stomach	stomach
17	chr15:57771800-57778200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:57771800-57786800	Weak transcription	Aorta	Aorta
19	chr15:57772200-57778200	Weak transcription	Liver	Liver
20	chr15:57772400-57778400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:57772600-57778000	Weak transcription	Pancreas	Pancrea
22	chr15:57774200-57777800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:57777000-57779200	Enhancers	HUVEC	blood vessel
24	chr15:57777000-57779400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:57777000-57779400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:57777200-57778400	Enhancers	A549	lung
27	chr15:57777400-57778200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr15:57777400-57778600	Enhancers	HepG2	liver
29	chr15:57777400-57779000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr15:57777400-57779200	Enhancers	NHEK	skin
31	chr15:57777400-57779400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr15:57777400-57779400	Enhancers	HMEC	breast
33	chr15:57777400-57786000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:57777600-57779000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr15:57777600-57779200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:57777600-57779400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr15:57777600-57779600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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