Variant report

Variant	rs4953423
Chromosome Location	chr2:47025672-47025673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47006608..47009505-chr2:47024005..47026288,2	K562	blood:
2	chr2:47023110..47025675-chr2:47027634..47029876,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1058157	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs11676737	0.95[CEU][hapmap]
rs12474201	0.95[CEU][hapmap]
rs12999586	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs13012099	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13025984	0.91[CEU][hapmap]
rs13031872	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17774133	1.00[YRI][hapmap]
rs17822019	0.91[CEU][hapmap]
rs17822294	0.83[EUR][1000 genomes]
rs2346878	0.92[CEU][hapmap]
rs2346882	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2346883	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34401107	0.83[EUR][1000 genomes]
rs34606703	0.86[EUR][1000 genomes]
rs34767235	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35158352	0.82[EUR][1000 genomes]
rs35809007	0.82[EUR][1000 genomes]
rs36071056	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3829835	0.95[CEU][hapmap]
rs4130731	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4356702	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4952842	0.95[CEU][hapmap]
rs4952847	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4953434	1.00[YRI][hapmap]
rs55689263	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56288593	0.87[EUR][1000 genomes]
rs62134772	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62134773	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62134799	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7593289	1.00[YRI][hapmap]
rs7594523	0.92[CEU][hapmap]
rs897530	0.81[CEU][hapmap]

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	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 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	chr2:47019400-47029200	Weak transcription	Aorta	Aorta
2	chr2:47021400-47032600	Weak transcription	Pancreas	Pancrea
3	chr2:47021800-47027400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:47022200-47026400	Enhancers	NHDF-Ad	bronchial
5	chr2:47022200-47031000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:47023400-47027800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:47023800-47028200	Enhancers	NHLF	lung
8	chr2:47024600-47027200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:47024600-47029200	Weak transcription	Lung	lung
10	chr2:47024800-47027200	Weak transcription	Primary T cells from cord blood	blood
11	chr2:47025000-47025800	Enhancers	Osteobl	bone
12	chr2:47025000-47034600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:47025200-47025800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:47025200-47026000	Enhancers	HMEC	breast
15	chr2:47025200-47026600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:47025200-47026800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:47025200-47029200	Weak transcription	Right Atrium	heart
18	chr2:47025200-47029400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:47025400-47025800	Enhancers	Left Ventricle	heart
20	chr2:47025400-47026800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:47025400-47028400	Weak transcription	Spleen	Spleen
22	chr2:47025400-47028600	Weak transcription	HSMM	muscle
23	chr2:47025400-47029000	Weak transcription	Right Ventricle	heart
24	chr2:47025600-47026600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:47025600-47029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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