Variant report

Variant	rs4972845
Chromosome Location	chr2:173504556-173504557
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173501713..173506948-chr2:173507663..173511952,6	K562	blood:

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

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

rs_ID	r²[population]
rs10497385	1.00[CEU][hapmap]
rs12465295	1.00[CEU][hapmap]
rs12465442	1.00[CEU][hapmap]
rs12467358	1.00[CEU][hapmap]
rs12477247	1.00[CEU][hapmap]
rs12477594	1.00[CEU][hapmap]
rs12478465	1.00[CEU][hapmap]
rs12615889	0.88[EUR][1000 genomes]
rs12622335	0.88[EUR][1000 genomes]
rs16860543	1.00[CEU][hapmap]
rs16860778	0.92[ASN][1000 genomes]
rs16860794	0.88[EUR][1000 genomes]
rs16860795	0.88[EUR][1000 genomes]
rs16860798	0.88[EUR][1000 genomes]
rs16860805	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs16860809	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[EUR][1000 genomes]
rs2034854	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2054162	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2084731	0.88[EUR][1000 genomes]
rs2084732	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs2122832	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2198799	0.92[ASN][1000 genomes]
rs2198800	0.92[ASN][1000 genomes]
rs2293646	1.00[CEU][hapmap]
rs2357415	1.00[CEU][hapmap]
rs3762619	1.00[CEU][hapmap]
rs3792260	1.00[CEU][hapmap]
rs4313941	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4404239	0.83[EUR][1000 genomes]
rs4482449	0.88[EUR][1000 genomes]
rs4972514	0.88[EUR][1000 genomes]
rs4972515	1.00[CEU][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes]
rs4972516	0.85[CHB][hapmap]
rs4972847	0.92[ASN][1000 genomes]
rs4972848	0.92[ASN][1000 genomes]
rs4972849	0.88[EUR][1000 genomes]
rs4972850	0.91[CHB][hapmap];0.88[EUR][1000 genomes]
rs4972851	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs4972852	0.85[EUR][1000 genomes]
rs56750684	0.85[ASN][1000 genomes]
rs57566649	0.95[ASN][1000 genomes]
rs58308687	0.92[ASN][1000 genomes]
rs59547791	0.92[ASN][1000 genomes]
rs59839960	0.92[ASN][1000 genomes]
rs6705827	0.94[ASN][1000 genomes]
rs6718477	1.00[CEU][hapmap]
rs6755100	1.00[CEU][hapmap]
rs73042937	0.92[ASN][1000 genomes]
rs73042954	0.82[ASN][1000 genomes]
rs733331	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs7595971	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS 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	29 gene(s)	inside rSNPs	diseases
3	nsv875416	chr2:173444462-173504674	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv875418	chr2:173460803-173504674	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv2762962	chr2:173493078-173527311	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173462200-173507400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:173472600-173504600	Weak transcription	Adipose Nuclei	Adipose
3	chr2:173489200-173507200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:173494600-173510200	Weak transcription	Primary T cells from cord blood	blood
5	chr2:173499800-173513000	Weak transcription	Pancreas	Pancrea
6	chr2:173503600-173505200	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:173503800-173505200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:173503800-173505200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:173503800-173506000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:173503800-173506200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:173504000-173505200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:173504000-173505200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr2:173504000-173505200	Enhancers	NHDF-Ad	bronchial
14	chr2:173504000-173505200	Enhancers	Osteobl	bone
15	chr2:173504000-173505600	Enhancers	NH-A	brain
16	chr2:173504200-173505400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:173504200-173505400	Enhancers	NHEK	skin
18	chr2:173504200-173505600	Enhancers	NHLF	lung
19	chr2:173504400-173504600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:173504400-173504800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:173504400-173505000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:173504400-173505200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:173504400-173505200	Enhancers	HMEC	breast
24	chr2:173504400-173505400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:173504400-173505400	Enhancers	HSMM	muscle

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