Variant report

Variant	rs1829957
Chromosome Location	chr7:102687010-102687011
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102686325..102688717-chr7:102697230..102700034,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10241865	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs10242028	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs10273725	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs10808120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953380	0.83[ASN][1000 genomes]
rs10953382	0.82[ASN][1000 genomes]
rs11514917	0.81[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs11768949	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11770319	0.85[ASN][1000 genomes]
rs11972261	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11976237	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs11978799	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs12537977	0.85[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs12666317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13221585	0.99[ASN][1000 genomes]
rs13221979	0.83[ASN][1000 genomes]
rs13222980	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13229214	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13232194	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13233521	0.81[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs13242493	0.91[JPT][hapmap]
rs1608651	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2222539	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2298854	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41501847	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs4609128	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4620204	0.81[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs4729860	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4729866	0.99[ASN][1000 genomes]
rs4729873	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6465876	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs6465878	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs6947403	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs6953980	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs6960428	0.88[CHB][hapmap];0.91[JPT][hapmap]
rs6978630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7458786	0.94[ASN][1000 genomes]
rs7780405	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7785272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7789252	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7794668	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs7807055	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs847646	0.91[JPT][hapmap]
rs847647	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs847648	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs847649	0.81[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs847656	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs847658	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs869332	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs952879	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs955992	0.85[ASN][1000 genomes]
rs9718453	0.81[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv1793320	chr7:102677917-102706209	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102679200-102713800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:102682600-102688200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:102683400-102695800	Weak transcription	Fetal Kidney	kidney
4	chr7:102684200-102690800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:102684200-102708000	Weak transcription	Pancreas	Pancrea
6	chr7:102684800-102688200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:102684800-102688800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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