Variant report

Variant	rs4957751
Chromosome Location	chr5:107631053-107631054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:107630732..107633907-chr5:107716808..107719263,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145743	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10036343	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10041907	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10063449	0.95[EUR][1000 genomes]
rs10063866	0.86[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs10071595	0.90[EUR][1000 genomes]
rs10072270	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10075907	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10463586	0.84[EUR][1000 genomes]
rs11743651	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs11744374	0.91[EUR][1000 genomes]
rs13178456	0.92[EUR][1000 genomes]
rs1849011	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2029104	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2044709	0.84[EUR][1000 genomes]
rs2044710	1.00[CEU][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs2112306	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2122158	1.00[CEU][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs2167001	0.89[EUR][1000 genomes]
rs2416188	1.00[CEU][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs28497144	0.89[EUR][1000 genomes]
rs286764	0.96[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes]
rs286767	0.87[EUR][1000 genomes]
rs2922423	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2922424	1.00[CEU][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs2922426	1.00[CEU][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs2922427	0.88[EUR][1000 genomes]
rs2922428	1.00[CEU][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs2922429	0.89[EUR][1000 genomes]
rs2922430	0.81[EUR][1000 genomes]
rs2922433	0.86[EUR][1000 genomes]
rs2966795	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2966797	0.89[EUR][1000 genomes]
rs2966799	1.00[CEU][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs34298471	0.91[EUR][1000 genomes]
rs4541643	1.00[CEU][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs4957553	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs4957753	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs55896795	0.95[EUR][1000 genomes]
rs57222565	0.91[EUR][1000 genomes]
rs6596770	0.87[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs6596771	0.87[EUR][1000 genomes]
rs6596777	0.87[EUR][1000 genomes]
rs6875297	0.81[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6883082	0.87[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs7708996	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7713705	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs7717747	1.00[CEU][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs7726298	1.00[CEU][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9326725	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs962680	0.88[EUR][1000 genomes]
rs989001	1.00[CEU][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882684	chr5:107521677-107695558	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830442	chr5:107539150-107697020	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv882685	chr5:107564746-107695558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv882686	chr5:107564746-107769095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv4950	chr5:107587778-107637348	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv882687	chr5:107595383-107695558	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv882688	chr5:107595383-107715746	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	esv2755544	chr5:107614101-107748101	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv1032608	chr5:107627193-107671907	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1019657	chr5:107629430-107677211	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107604800-107644400	Weak transcription	Fetal Intestine Small	intestine
2	chr5:107615000-107705600	Weak transcription	Left Ventricle	heart
3	chr5:107615200-107660400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:107616800-107631200	Weak transcription	Stomach Mucosa	stomach
5	chr5:107619600-107631200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:107620400-107640800	Weak transcription	Primary T cells from cord blood	blood
7	chr5:107620600-107678600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:107620800-107643600	Weak transcription	Primary B cells from cord blood	blood
9	chr5:107630200-107632600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:107630200-107662600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:107630400-107631200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:107630400-107631400	Weak transcription	Hela-S3	cervix
13	chr5:107630400-107631600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:107630400-107632400	Enhancers	NHEK	skin
15	chr5:107631000-107631200	Enhancers	HMEC	breast
16	chr5:107631000-107631600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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