Variant report

Variant	rs2192017
Chromosome Location	chr7:122266911-122266912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:122265961..122267873-chr7:122272668..122274535,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12533063	0.84[JPT][hapmap]
rs1476898	0.84[JPT][hapmap]
rs1544594	0.92[JPT][hapmap]
rs1544595	0.92[JPT][hapmap]
rs1860855	0.84[JPT][hapmap]
rs2058443	0.82[EUR][1000 genomes]
rs2109968	0.88[CEU][hapmap];0.92[JPT][hapmap]
rs2159827	0.92[JPT][hapmap]
rs2192018	0.82[JPT][hapmap]
rs2192024	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2251761	0.92[JPT][hapmap]
rs2254981	0.96[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2402618	0.84[AFR][1000 genomes]
rs2430016	0.96[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2430017	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2430018	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2430020	0.92[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2430021	0.96[CEU][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2430022	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.99[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2430023	0.84[JPT][hapmap]
rs2430024	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.92[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2430030	0.85[CEU][hapmap];0.92[JPT][hapmap];0.92[LWK][hapmap];0.84[MKK][hapmap];0.83[TSI][hapmap]
rs2430031	0.88[CEU][hapmap];0.84[JPT][hapmap]
rs2430042	0.96[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2430044	0.96[CEU][hapmap];0.88[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes]
rs2430049	0.83[ASW][hapmap];0.83[JPT][hapmap]
rs2430050	0.86[CEU][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs2430053	0.92[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2471185	0.86[EUR][1000 genomes]
rs2471187	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2471189	0.89[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2471190	0.92[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2471191	0.84[AFR][1000 genomes]
rs2471193	0.88[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs2471194	0.84[JPT][hapmap]
rs2471195	0.89[ASW][hapmap];0.89[CEU][hapmap];0.89[CHB][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.96[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap]
rs2471196	0.89[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs2471197	1.00[YRI][hapmap]
rs2471198	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2471199	0.96[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2471202	0.91[JPT][hapmap]
rs2471203	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2471204	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2471207	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2471211	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2471214	0.92[CEU][hapmap];0.87[TSI][hapmap];0.80[YRI][hapmap];0.88[EUR][1000 genomes]
rs4285412	0.96[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7789220	0.88[EUR][1000 genomes]
rs7789692	0.86[EUR][1000 genomes]
rs7793961	0.84[JPT][hapmap]
rs7797968	0.84[JPT][hapmap]
rs961628	0.82[TSI][hapmap];0.80[YRI][hapmap]

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:6 , 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	chr7:122264600-122268200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:122264600-122268400	Weak transcription	NHDF-Ad	bronchial
5	chr7:122264800-122268400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:122265800-122269200	Weak transcription	Aorta	Aorta

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