Variant report

Variant	rs72967058
Chromosome Location	chr6:128629648-128629649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs11964875	0.98[EUR][1000 genomes]
rs11965122	0.98[EUR][1000 genomes]
rs11965141	0.98[EUR][1000 genomes]
rs11966128	0.98[EUR][1000 genomes]
rs1339189	0.91[EUR][1000 genomes]
rs1339196	1.00[EUR][1000 genomes]
rs1416517	0.89[EUR][1000 genomes]
rs1538498	1.00[EUR][1000 genomes]
rs1612415	0.81[EUR][1000 genomes]
rs17055564	0.98[EUR][1000 genomes]
rs17055574	1.00[EUR][1000 genomes]
rs17055596	1.00[EUR][1000 genomes]
rs17055597	0.98[EUR][1000 genomes]
rs17055601	1.00[EUR][1000 genomes]
rs17055604	0.98[EUR][1000 genomes]
rs17055608	0.98[EUR][1000 genomes]
rs17055611	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17055612	0.98[EUR][1000 genomes]
rs17055616	0.98[EUR][1000 genomes]
rs17055617	0.98[EUR][1000 genomes]
rs17055618	0.98[EUR][1000 genomes]
rs17055619	0.98[EUR][1000 genomes]
rs17055628	0.96[EUR][1000 genomes]
rs17055630	1.00[EUR][1000 genomes]
rs17055679	1.00[EUR][1000 genomes]
rs17055689	0.91[EUR][1000 genomes]
rs17055706	0.91[EUR][1000 genomes]
rs17055717	0.89[EUR][1000 genomes]
rs17055719	1.00[EUR][1000 genomes]
rs17055727	0.89[EUR][1000 genomes]
rs17055733	0.91[EUR][1000 genomes]
rs17343887	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17353545	0.89[EUR][1000 genomes]
rs17430131	0.83[EUR][1000 genomes]
rs17430452	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17456343	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17456385	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17456601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1768360	0.81[EUR][1000 genomes]
rs2027311	0.98[EUR][1000 genomes]
rs4267969	1.00[EUR][1000 genomes]
rs4466261	0.98[EUR][1000 genomes]
rs55700986	0.85[EUR][1000 genomes]
rs55969073	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56095177	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56241890	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57318936	1.00[EUR][1000 genomes]
rs59132771	1.00[EUR][1000 genomes]
rs60915390	0.81[EUR][1000 genomes]
rs6420738	0.91[EUR][1000 genomes]
rs6913718	0.98[EUR][1000 genomes]
rs6931769	0.98[EUR][1000 genomes]
rs6933821	0.83[EUR][1000 genomes]
rs72967021	0.85[EUR][1000 genomes]
rs72967026	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72967039	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72967046	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72967053	0.98[EUR][1000 genomes]
rs72967056	0.98[EUR][1000 genomes]
rs72967074	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72967078	0.98[EUR][1000 genomes]
rs72967081	0.98[EUR][1000 genomes]
rs72967087	0.98[EUR][1000 genomes]
rs72967090	0.98[EUR][1000 genomes]
rs72969051	0.91[EUR][1000 genomes]
rs72969054	1.00[EUR][1000 genomes]
rs72969059	1.00[EUR][1000 genomes]
rs72969061	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72969063	1.00[EUR][1000 genomes]
rs72969067	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72969070	1.00[EUR][1000 genomes]
rs72969074	1.00[EUR][1000 genomes]
rs72969075	0.98[EUR][1000 genomes]
rs72969078	0.98[EUR][1000 genomes]
rs72969081	0.91[EUR][1000 genomes]
rs72969088	0.91[EUR][1000 genomes]
rs72969090	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72969093	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72969097	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72969098	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72971103	1.00[EUR][1000 genomes]
rs72971104	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72972078	0.91[EUR][1000 genomes]
rs72972082	1.00[EUR][1000 genomes]
rs72972084	1.00[EUR][1000 genomes]
rs72972086	1.00[EUR][1000 genomes]
rs72972090	0.89[EUR][1000 genomes]
rs72972091	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72974006	0.84[AFR][1000 genomes]
rs7771630	0.98[EUR][1000 genomes]
rs7773248	0.89[EUR][1000 genomes]
rs7776405	1.00[EUR][1000 genomes]
rs9321114	0.98[EUR][1000 genomes]
rs9375562	0.86[EUR][1000 genomes]
rs9402035	0.94[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	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong 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 miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv970667	chr6:128622520-128630617	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128593000-128631600	Weak transcription	Left Ventricle	heart
2	chr6:128602400-128632400	Weak transcription	Pancreas	Pancrea
3	chr6:128603000-128642800	Weak transcription	Fetal Intestine Large	intestine
4	chr6:128604400-128630600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:128604400-128633200	Weak transcription	Fetal Thymus	thymus
6	chr6:128605800-128631200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:128606200-128630600	Weak transcription	Fetal Heart	heart
8	chr6:128609000-128646000	Weak transcription	NH-A	brain
9	chr6:128610800-128643200	Weak transcription	NHEK	skin
10	chr6:128612800-128630400	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:128613200-128640800	Weak transcription	HepG2	liver
12	chr6:128621800-128649000	Weak transcription	HSMMtube	muscle
13	chr6:128622200-128631400	Weak transcription	Fetal Intestine Small	intestine
14	chr6:128625200-128642600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:128626000-128631800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:128626000-128643000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:128626200-128631600	Weak transcription	Lung	lung
18	chr6:128626200-128645800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:128626600-128641400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:128627600-128631200	Weak transcription	Stomach Mucosa	stomach
21	chr6:128627800-128642800	Weak transcription	HSMM	muscle
22	chr6:128627800-128649000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:128628000-128631600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:128628800-128630000	Enhancers	HUVEC	blood vessel
25	chr6:128629200-128632800	Weak transcription	NHDF-Ad	bronchial
26	chr6:128629400-128631000	Weak transcription	Muscle Satellite Cultured Cells	--

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