Variant report

Variant	rs2430023
Chromosome Location	chr7:122268634-122268635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs12530951	0.92[JPT][hapmap];0.87[EUR][1000 genomes]
rs12532793	0.90[EUR][1000 genomes]
rs12533063	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12538945	0.98[ASN][1000 genomes]
rs12668581	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs1476898	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1544594	0.93[JPT][hapmap]
rs1544595	0.93[JPT][hapmap]
rs1860855	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1860857	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2058264	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs2109968	0.93[JPT][hapmap]
rs2159827	0.92[JPT][hapmap]
rs2191276	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs2192017	0.84[JPT][hapmap]
rs2192018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2215665	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2251761	0.92[JPT][hapmap]
rs2430016	0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs2430020	0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2430022	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs2430028	0.80[EUR][1000 genomes]
rs2430030	0.92[JPT][hapmap]
rs2430031	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs2430042	0.93[JPT][hapmap]
rs2430044	0.91[JPT][hapmap];0.87[YRI][hapmap]
rs2430048	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2430049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[ASN][1000 genomes]
rs2430053	0.93[JPT][hapmap]
rs2471189	0.92[JPT][hapmap]
rs2471190	0.93[JPT][hapmap]
rs2471191	1.00[JPT][hapmap]
rs2471193	0.92[JPT][hapmap]
rs2471194	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2471195	0.92[JPT][hapmap]
rs2471196	0.92[JPT][hapmap]
rs2471199	0.92[JPT][hapmap];0.90[YRI][hapmap];0.82[ASN][1000 genomes]
rs2471200	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2471202	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2471206	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2471207	0.80[ASN][1000 genomes]
rs2471212	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3808171	0.96[EUR][1000 genomes]
rs4285412	0.93[JPT][hapmap]
rs4727944	0.90[EUR][1000 genomes]
rs56326140	0.82[EUR][1000 genomes]
rs60730410	0.83[EUR][1000 genomes]
rs61594727	0.81[EUR][1000 genomes]
rs61692498	0.81[EUR][1000 genomes]
rs67776758	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73218224	0.84[EUR][1000 genomes]
rs73218225	0.85[EUR][1000 genomes]
rs73218228	0.88[EUR][1000 genomes]
rs73218230	0.81[EUR][1000 genomes]
rs73218231	0.81[EUR][1000 genomes]
rs73218232	0.81[EUR][1000 genomes]
rs73218233	0.81[EUR][1000 genomes]
rs73218235	0.81[EUR][1000 genomes]
rs73218236	0.88[EUR][1000 genomes]
rs740813	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs7786557	0.86[EUR][1000 genomes]
rs7793961	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7794897	0.88[EUR][1000 genomes]
rs7797968	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs986999	0.87[EUR][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	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122254800-122271400	Weak transcription	Left Ventricle	heart
2	chr7:122257600-122268800	Weak transcription	HepG2	liver
3	chr7:122265800-122269200	Weak transcription	Aorta	Aorta
4	chr7:122268000-122269400	Weak transcription	Fetal Kidney	kidney
5	chr7:122268200-122270800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:122268400-122269200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:122268400-122269800	Enhancers	NHDF-Ad	bronchial
8	chr7:122268400-122270000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:122268600-122269400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:122268600-122269800	Enhancers	Osteobl	bone

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