Variant report

Variant	rs71531164
Chromosome Location	chr7:78912215-78912216
allele	GATATAT/TATATATAACA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10225262	0.81[EUR][1000 genomes]
rs10230177	0.85[ASN][1000 genomes]
rs10232677	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10234403	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235211	0.83[EUR][1000 genomes]
rs10240268	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10241692	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10254948	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10270040	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10270645	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10270764	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10480716	0.86[EUR][1000 genomes]
rs10953797	0.82[EUR][1000 genomes]
rs10953806	0.82[EUR][1000 genomes]
rs10953812	0.86[EUR][1000 genomes]
rs10953821	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10953823	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10953826	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953827	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10953828	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10953835	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11535245	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11766918	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11768754	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11977493	0.86[EUR][1000 genomes]
rs12111592	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12111980	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12154356	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12154470	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12536811	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12538685	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12539220	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12540324	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12666243	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12706101	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706102	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13221173	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13222018	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13224467	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13224739	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13230407	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13230579	0.85[ASN][1000 genomes]
rs13234027	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13237396	0.83[EUR][1000 genomes]
rs13237397	0.83[EUR][1000 genomes]
rs13240307	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13243285	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13243756	0.86[EUR][1000 genomes]
rs13306942	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1406152	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1406157	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1406158	0.86[EUR][1000 genomes]
rs1406159	0.86[EUR][1000 genomes]
rs1528265	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1528269	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1528270	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1528271	0.86[EUR][1000 genomes]
rs1528272	0.87[EUR][1000 genomes]
rs1528273	0.86[EUR][1000 genomes]
rs1528274	0.86[EUR][1000 genomes]
rs1528280	0.90[EUR][1000 genomes]
rs1528281	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1554833	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1554834	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1554835	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1554836	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1881292	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1918936	0.92[EUR][1000 genomes]
rs1918937	0.91[EUR][1000 genomes]
rs1918938	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1918939	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2058393	0.82[EUR][1000 genomes]
rs2159709	0.82[EUR][1000 genomes]
rs2242505	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2364902	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2886212	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34059048	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34066812	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34983504	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35035926	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35512002	0.80[ASN][1000 genomes]
rs4129689	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4143262	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4256536	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4445162	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4727838	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4727841	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4727843	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4730746	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4730747	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60960798	0.87[EUR][1000 genomes]
rs62458964	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62458973	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6466593	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6466597	0.86[ASN][1000 genomes]
rs6946286	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6946789	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6947782	0.86[EUR][1000 genomes]
rs6950549	0.82[EUR][1000 genomes]
rs6952164	0.81[EUR][1000 genomes]
rs6953483	0.92[EUR][1000 genomes]
rs6961357	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6965742	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6968269	0.80[EUR][1000 genomes]
rs717067	0.87[EUR][1000 genomes]
rs7341488	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7455235	0.80[EUR][1000 genomes]
rs7781907	0.82[EUR][1000 genomes]
rs7790555	0.84[ASN][1000 genomes]
rs7805028	0.81[EUR][1000 genomes]
rs7809944	0.84[ASN][1000 genomes]
rs949496	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9648980	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9886146	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9886330	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][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	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831041	chr7:78819499-78973222	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv971530	chr7:78909395-78914563	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78910200-78912400	Enhancers	Osteobl	bone
2	chr7:78910400-78913800	Enhancers	HSMM	muscle
3	chr7:78910600-78915800	Enhancers	NHEK	skin
4	chr7:78910800-78912800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:78910800-78913400	Enhancers	HUVEC	blood vessel
6	chr7:78910800-78914200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:78911000-78912600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr7:78911400-78912400	Enhancers	NH-A	brain
9	chr7:78911400-78913600	Enhancers	HSMMtube	muscle
10	chr7:78911400-78913800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:78911400-78914200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:78911400-78915600	Enhancers	HMEC	breast
13	chr7:78911600-78912400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr7:78911600-78912400	Enhancers	Fetal Heart	heart
15	chr7:78911600-78912600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr7:78911600-78913200	Enhancers	Hela-S3	cervix
17	chr7:78911600-78913600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:78911600-78913600	Enhancers	Fetal Kidney	kidney
19	chr7:78911600-78913800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:78911600-78913800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:78911600-78913800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr7:78911800-78913000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:78911800-78914000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr7:78912000-78912400	Enhancers	A549	lung
25	chr7:78912000-78913400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:78912000-78913800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr7:78912000-78917400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:78912000-78922200	Weak transcription	Brain Angular Gyrus	brain
29	chr7:78912200-78912400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:78912200-78912600	Flanking Active TSS	NHDF-Ad	bronchial
31	chr7:78912200-78913800	Enhancers	NHLF	lung
32	chr7:78912200-78914800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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