Variant report

Variant	rs7567220
Chromosome Location	chr2:182639978-182639979
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	chr2:182637961..182640711-chr2:182640767..182642873,2	MCF-7	breast:
2	chr2:182637643..182640339-chr2:182643105..182646087,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10165936	0.97[YRI][hapmap];0.87[AFR][1000 genomes]
rs10173114	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs10179363	0.89[YRI][hapmap]
rs10179547	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10182213	0.86[AFR][1000 genomes]
rs10183527	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183937	0.94[CHB][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10190772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[ASN][1000 genomes]
rs10803953	0.92[CHB][hapmap];0.90[ASN][1000 genomes]
rs10930979	0.94[ASN][1000 genomes]
rs11884097	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11895376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[ASN][1000 genomes]
rs11901603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902910	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13414894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415272	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424337	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425734	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs13428496	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1343793	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867494	0.82[CHB][hapmap]
rs16867495	0.85[JPT][hapmap]
rs1881159	0.87[YRI][hapmap]
rs2037799	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2368225	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2582999	0.93[ASN][1000 genomes]
rs4018749	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs4508561	0.80[ASN][1000 genomes]
rs57930770	0.88[ASN][1000 genomes]
rs60384758	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730859	0.89[AFR][1000 genomes]
rs6740944	0.88[ASN][1000 genomes]
rs6748354	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs6754481	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567371	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7595805	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9288073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288074	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937296	0.82[ASN][1000 genomes]
rs951542	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182636400-182645800	Weak transcription	Pancreas	Pancrea
2	chr2:182636600-182640600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:182638400-182640000	Enhancers	HMEC	breast
4	chr2:182638600-182640200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr2:182638600-182643400	Weak transcription	Placenta	Placenta
6	chr2:182638800-182640000	Enhancers	HSMMtube	muscle
7	chr2:182639000-182640000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:182639000-182640000	Enhancers	NHDF-Ad	bronchial
9	chr2:182639200-182640000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:182639200-182640000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:182639200-182640000	Enhancers	HSMM	muscle
12	chr2:182639200-182640000	Enhancers	NHEK	skin
13	chr2:182639200-182640200	Enhancers	Hela-S3	cervix
14	chr2:182639200-182644000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:182639400-182640000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:182639400-182640000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:182639400-182640000	Enhancers	GM12878-XiMat	blood
18	chr2:182639400-182640000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:182639400-182640000	Enhancers	Osteobl	bone
20	chr2:182639600-182640000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:182639600-182641200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:182639600-182643400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:182639800-182640200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:182639800-182643200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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