Variant report

Variant	rs1293113
Chromosome Location	chr7:79449603-79449604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs1008311	0.81[ASN][1000 genomes]
rs1009198	0.86[ASN][1000 genomes]
rs1009199	0.81[ASN][1000 genomes]
rs10252802	0.80[EUR][1000 genomes]
rs11975054	0.81[ASN][1000 genomes]
rs11975127	0.81[ASN][1000 genomes]
rs11977110	0.86[ASN][1000 genomes]
rs12113482	0.81[ASN][1000 genomes]
rs12531185	0.81[ASN][1000 genomes]
rs1293091	1.00[ASN][1000 genomes]
rs1293109	1.00[ASN][1000 genomes]
rs1293110	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1293111	0.97[ASN][1000 genomes]
rs1293112	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1293114	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1293115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1293116	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1297413	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1319297	0.86[ASN][1000 genomes]
rs1523834	0.89[ASN][1000 genomes]
rs16886625	0.84[ASN][1000 genomes]
rs17147916	0.84[ASN][1000 genomes]
rs17152857	0.86[ASN][1000 genomes]
rs17152858	0.86[ASN][1000 genomes]
rs17152859	0.86[ASN][1000 genomes]
rs17152860	0.86[ASN][1000 genomes]
rs17152864	0.86[ASN][1000 genomes]
rs17152888	0.86[ASN][1000 genomes]
rs17152926	0.95[ASN][1000 genomes]
rs17152944	0.92[ASN][1000 genomes]
rs17152972	0.81[ASN][1000 genomes]
rs17793556	0.81[ASN][1000 genomes]
rs1851752	0.86[ASN][1000 genomes]
rs1880167	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1916732	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1916740	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1922725	1.00[ASN][1000 genomes]
rs1922726	1.00[ASN][1000 genomes]
rs1922728	0.99[ASN][1000 genomes]
rs1922729	0.89[EUR][1000 genomes]
rs1922731	0.83[ASN][1000 genomes]
rs1922734	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1985747	0.84[ASN][1000 genomes]
rs1985821	0.85[ASN][1000 genomes]
rs2222904	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2244821	0.80[EUR][1000 genomes]
rs2246996	0.99[ASN][1000 genomes]
rs2366248	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2428627	0.86[ASN][1000 genomes]
rs2465515	0.87[ASN][1000 genomes]
rs2525815	0.86[ASN][1000 genomes]
rs2525816	0.86[ASN][1000 genomes]
rs2525820	0.86[ASN][1000 genomes]
rs2525822	0.86[ASN][1000 genomes]
rs2525825	0.86[ASN][1000 genomes]
rs2525826	0.84[ASN][1000 genomes]
rs2525827	0.84[ASN][1000 genomes]
rs2525835	0.83[ASN][1000 genomes]
rs2689804	0.92[ASN][1000 genomes]
rs2689805	0.92[ASN][1000 genomes]
rs2689806	0.80[EUR][1000 genomes]
rs2689810	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2689811	0.85[ASN][1000 genomes]
rs2707858	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2707882	0.86[ASN][1000 genomes]
rs2707883	0.86[ASN][1000 genomes]
rs2707886	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2707887	1.00[ASN][1000 genomes]
rs2707888	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2707891	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2707896	0.81[ASN][1000 genomes]
rs2707897	0.89[ASN][1000 genomes]
rs2707911	0.86[ASN][1000 genomes]
rs2707920	0.83[ASN][1000 genomes]
rs2707922	0.83[ASN][1000 genomes]
rs2707926	0.80[EUR][1000 genomes]
rs2714640	0.82[ASN][1000 genomes]
rs2714641	0.80[EUR][1000 genomes]
rs2714642	0.92[ASN][1000 genomes]
rs2714653	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714655	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714656	0.99[ASN][1000 genomes]
rs2714661	0.99[ASN][1000 genomes]
rs2714662	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714664	0.99[ASN][1000 genomes]
rs2714680	0.86[EUR][1000 genomes]
rs2714695	1.00[ASN][1000 genomes]
rs2714696	1.00[ASN][1000 genomes]
rs2714697	0.88[EUR][1000 genomes]
rs333211	0.85[EUR][1000 genomes]
rs37170	0.85[EUR][1000 genomes]
rs4394329	0.95[ASN][1000 genomes]
rs55772364	0.86[ASN][1000 genomes]
rs56320258	0.86[ASN][1000 genomes]
rs56351881	0.86[ASN][1000 genomes]
rs57226669	0.86[ASN][1000 genomes]
rs57609264	0.81[ASN][1000 genomes]
rs57942274	0.86[ASN][1000 genomes]
rs59329952	0.84[ASN][1000 genomes]
rs60390345	0.86[ASN][1000 genomes]
rs60870507	0.86[ASN][1000 genomes]
rs61366591	0.81[ASN][1000 genomes]
rs6466823	0.81[ASN][1000 genomes]
rs6946316	0.81[ASN][1000 genomes]
rs6949163	0.81[ASN][1000 genomes]
rs724336	0.85[JPT][hapmap]
rs73381226	0.86[ASN][1000 genomes]
rs73705067	0.86[ASN][1000 genomes]
rs73707160	0.81[ASN][1000 genomes]
rs73709915	0.81[ASN][1000 genomes]
rs7777781	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7789978	0.84[ASN][1000 genomes]
rs7803517	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7803852	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs886475	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs9649000	0.81[EUR][1000 genomes]

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	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2829876	chr7:79355196-79483480	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv888521	chr7:79371206-79483480	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv888522	chr7:79402551-79619012	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3429432	chr7:79447566-79449864	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79449400-79449800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:79449400-79449800	Enhancers	NH-A	brain
3	chr7:79449400-79450000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:79449400-79450000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:79449400-79450200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:79449600-79449800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:79449600-79449800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:79449600-79449800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:79449600-79449800	Active TSS	Brain Anterior Caudate	brain
10	chr7:79449600-79449800	Flanking Active TSS	Fetal Lung	lung
11	chr7:79449600-79449800	Flanking Active TSS	NHLF	lung
12	chr7:79449600-79450000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:79449600-79450000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:79449600-79450000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:79449600-79450000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr7:79449600-79450000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:79449600-79450000	Active TSS	Brain Germinal Matrix	brain
18	chr7:79449600-79450000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr7:79449600-79450000	Active TSS	Brain Substantia Nigra	brain
20	chr7:79449600-79450000	Active TSS	Fetal Brain Female	brain
21	chr7:79449600-79450000	Flanking Active TSS	Osteobl	bone
22	chr7:79449600-79450200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:79449600-79452200	Weak transcription	Fetal Brain Male	brain

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