Variant report

Variant	rs2662730
Chromosome Location	chr4:121214653-121214654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1355112	0.89[ASN][1000 genomes]
rs1396534	0.90[ASN][1000 genomes]
rs1396536	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1508999	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554728	0.86[ASN][1000 genomes]
rs1554729	0.86[ASN][1000 genomes]
rs2036693	0.86[ASN][1000 genomes]
rs2036694	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036695	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2036696	0.87[ASN][1000 genomes]
rs2662695	0.86[ASN][1000 genomes]
rs2662697	0.86[ASN][1000 genomes]
rs2662698	0.85[ASN][1000 genomes]
rs2662699	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2662700	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2662704	0.83[ASN][1000 genomes]
rs2662706	0.90[ASN][1000 genomes]
rs2662708	0.82[ASN][1000 genomes]
rs2662709	0.83[ASN][1000 genomes]
rs2662715	0.85[ASN][1000 genomes]
rs2662720	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2662721	0.85[ASN][1000 genomes]
rs2662723	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2662724	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2662731	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2662732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2662741	0.87[ASN][1000 genomes]
rs2662742	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2662743	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2662760	0.81[ASN][1000 genomes]
rs2693755	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2693756	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2693757	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2693758	0.85[ASN][1000 genomes]
rs2693760	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2693763	0.85[ASN][1000 genomes]
rs2715951	0.81[ASN][1000 genomes]
rs2715952	0.84[ASN][1000 genomes]
rs2715957	0.81[ASN][1000 genomes]
rs2715958	0.85[ASN][1000 genomes]
rs2715959	0.85[ASN][1000 genomes]
rs2715960	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2715965	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2715966	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2715967	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715968	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2715978	0.83[ASN][1000 genomes]
rs2715992	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2715993	0.86[ASN][1000 genomes]
rs2715999	0.86[ASN][1000 genomes]
rs2716008	0.91[ASN][1000 genomes]
rs2716009	0.83[ASN][1000 genomes]
rs2716010	0.81[ASN][1000 genomes]
rs906716	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs955002	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv595333	chr4:121093248-121440368	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1005240	chr4:121093285-121420997	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr4:121213400-121215400	Enhancers	Osteobl	bone
2	chr4:121213600-121215000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:121213600-121215800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:121214000-121215200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:121214200-121215200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:121214400-121215400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:121214600-121218400	Weak transcription	Muscle Satellite Cultured Cells	--

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