Variant report

Variant	rs609832
Chromosome Location	chr1:211725393-211725394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211720646..211723922-chr1:211723928..211727458,3	MCF-7	breast:
2	chr1:211687336..211689241-chr1:211725322..211726983,2	MCF-7	breast:
3	chr1:211721919..211725737-chr1:211730323..211735223,5	MCF-7	breast:
4	chr1:211715199..211717091-chr1:211724445..211727190,2	K562	blood:
5	chr1:211723836..211726328-chr1:211802302..211805262,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11119772	0.80[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1147663	0.84[AMR][1000 genomes]
rs12091351	0.92[JPT][hapmap]
rs12562288	0.92[JPT][hapmap]
rs17017739	0.80[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17017782	1.00[JPT][hapmap]
rs1777828	1.00[AMR][1000 genomes]
rs2278652	0.92[JPT][hapmap]
rs3738198	0.92[JPT][hapmap]
rs58237495	0.83[ASN][1000 genomes]
rs58525100	0.83[ASN][1000 genomes]
rs58823330	0.83[ASN][1000 genomes]
rs59771307	0.83[ASN][1000 genomes]
rs60668234	0.83[ASN][1000 genomes]
rs620336	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs621213	1.00[AMR][1000 genomes]
rs74137713	0.83[ASN][1000 genomes]
rs7519865	0.92[JPT][hapmap]
rs7530862	0.92[JPT][hapmap]
rs7543376	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs784837	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:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211720200-211726000	Enhancers	Fetal Intestine Small	intestine
2	chr1:211720800-211726000	Enhancers	Fetal Intestine Large	intestine
3	chr1:211723200-211725400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:211723200-211725400	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:211724400-211728600	Weak transcription	K562	blood
6	chr1:211724800-211725600	Flanking Active TSS	HUVEC	blood vessel
7	chr1:211725000-211725400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:211725000-211725600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:211725000-211725800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:211725000-211726000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:211725000-211726000	Flanking Active TSS	Hela-S3	cervix
12	chr1:211725000-211726000	Enhancers	HMEC	breast
13	chr1:211725000-211726800	Enhancers	Placenta	Placenta
14	chr1:211725200-211725400	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:211725200-211725400	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:211725200-211725400	Enhancers	Fetal Thymus	thymus
17	chr1:211725200-211725400	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr1:211725200-211725600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:211725200-211725600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:211725200-211725600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:211725200-211725600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr1:211725200-211725600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:211725200-211725600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:211725200-211725600	Enhancers	Adipose Nuclei	Adipose
25	chr1:211725200-211725600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr1:211725200-211725600	Enhancers	NHLF	lung
27	chr1:211725200-211725600	Flanking Active TSS	Osteobl	bone
28	chr1:211725200-211725800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr1:211725200-211725800	Enhancers	Fetal Stomach	stomach
30	chr1:211725200-211726000	Enhancers	Fetal Lung	lung

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