Variant report

Variant	rs2430031
Chromosome Location	chr7:122307692-122307693
allele	C/T
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:56)

rs_ID	r²[population]
rs12530951	0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs12532793	0.81[ASN][1000 genomes]
rs12533063	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1476898	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1544594	0.81[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs1544595	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs1860855	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2109967	0.85[EUR][1000 genomes]
rs2109968	0.96[CEU][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2159827	0.92[JPT][hapmap]
rs2192017	0.88[CEU][hapmap];0.84[JPT][hapmap]
rs2192018	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2192024	0.86[EUR][1000 genomes]
rs2215668	0.81[ASN][1000 genomes]
rs2251761	0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs2254981	0.89[CEU][hapmap]
rs2430016	0.89[CEU][hapmap];0.93[JPT][hapmap]
rs2430020	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs2430021	0.89[CEU][hapmap]
rs2430022	0.92[CEU][hapmap];0.92[JPT][hapmap]
rs2430023	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs2430024	0.85[CEU][hapmap]
rs2430030	0.96[CEU][hapmap];0.92[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2430032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2430034	0.81[ASN][1000 genomes]
rs2430035	0.81[ASN][1000 genomes]
rs2430040	0.85[EUR][1000 genomes]
rs2430042	0.89[CEU][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes]
rs2430044	0.88[CEU][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes]
rs2430045	0.81[ASN][1000 genomes]
rs2430047	0.81[ASN][1000 genomes]
rs2430049	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2430050	0.85[EUR][1000 genomes]
rs2430053	0.85[CEU][hapmap];0.93[JPT][hapmap]
rs2471185	0.86[EUR][1000 genomes]
rs2471187	0.85[EUR][1000 genomes]
rs2471189	0.92[CEU][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes]
rs2471190	0.85[CEU][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes]
rs2471191	1.00[JPT][hapmap]
rs2471193	0.81[CEU][hapmap];0.92[JPT][hapmap]
rs2471194	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2471195	0.85[CEU][hapmap];0.92[JPT][hapmap]
rs2471196	0.82[CEU][hapmap];0.92[JPT][hapmap]
rs2471199	0.89[CEU][hapmap];0.92[JPT][hapmap]
rs2471202	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs2471212	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs2471214	0.88[CEU][hapmap]
rs4285412	0.89[CEU][hapmap];0.93[JPT][hapmap]
rs4727944	0.97[ASN][1000 genomes]
rs7789220	0.83[EUR][1000 genomes]
rs7789692	0.86[EUR][1000 genomes]
rs7793961	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7794897	0.96[ASN][1000 genomes]
rs7797968	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs986997	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs986999	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122293600-122318600	Weak transcription	Lung	lung
2	chr7:122294000-122314400	Weak transcription	Fetal Lung	lung
3	chr7:122301400-122315200	Weak transcription	Gastric	stomach
4	chr7:122305400-122312600	Weak transcription	Pancreas	Pancrea
5	chr7:122306800-122308000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:122307000-122308200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:122307000-122308400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:122307000-122313800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:122307600-122307800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:122307600-122308000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:122307600-122308200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:122307600-122308200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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