Variant report

Variant	rs72967074
Chromosome Location	chr6:128631746-128631747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs11753971	1.00[ASN][1000 genomes]
rs11964875	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965122	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965141	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966128	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339189	0.91[EUR][1000 genomes]
rs1339196	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416517	0.89[EUR][1000 genomes]
rs1538498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1612415	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055287	1.00[ASN][1000 genomes]
rs17055307	1.00[ASN][1000 genomes]
rs17055313	1.00[ASN][1000 genomes]
rs17055324	1.00[ASN][1000 genomes]
rs17055328	1.00[ASN][1000 genomes]
rs17055339	1.00[ASN][1000 genomes]
rs17055340	1.00[ASN][1000 genomes]
rs17055343	1.00[ASN][1000 genomes]
rs17055348	1.00[ASN][1000 genomes]
rs17055350	1.00[ASN][1000 genomes]
rs17055352	1.00[ASN][1000 genomes]
rs17055362	1.00[ASN][1000 genomes]
rs17055368	1.00[ASN][1000 genomes]
rs17055373	1.00[ASN][1000 genomes]
rs17055386	1.00[ASN][1000 genomes]
rs17055450	1.00[ASN][1000 genomes]
rs17055452	1.00[ASN][1000 genomes]
rs17055554	1.00[ASN][1000 genomes]
rs17055564	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055574	1.00[EUR][1000 genomes]
rs17055596	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17055597	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055601	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055604	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055608	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055612	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055616	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055617	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055618	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055619	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055628	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055630	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055679	1.00[EUR][1000 genomes]
rs17055689	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17055706	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17055717	0.89[EUR][1000 genomes]
rs17055719	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17055727	0.89[EUR][1000 genomes]
rs17055733	0.91[EUR][1000 genomes]
rs17343887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17350133	1.00[ASN][1000 genomes]
rs17350286	1.00[ASN][1000 genomes]
rs17353545	0.89[EUR][1000 genomes]
rs17430131	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17430452	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17456343	1.00[EUR][1000 genomes]
rs17456385	1.00[EUR][1000 genomes]
rs17456601	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1768347	1.00[ASN][1000 genomes]
rs1768353	1.00[ASN][1000 genomes]
rs1768357	1.00[ASN][1000 genomes]
rs1768360	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027311	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4267969	1.00[EUR][1000 genomes]
rs4466261	0.98[EUR][1000 genomes]
rs55700986	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55969073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56095177	0.94[EUR][1000 genomes]
rs56241890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57318936	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59132771	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60915390	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6420738	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913718	0.98[EUR][1000 genomes]
rs6931769	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933821	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967021	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967026	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967039	1.00[EUR][1000 genomes]
rs72967046	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967053	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967056	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967058	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72967078	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967081	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967087	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967090	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969051	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969054	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969059	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969061	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969063	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969067	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969070	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72969074	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969075	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969078	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969081	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969088	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969090	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969093	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969097	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969098	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72971103	1.00[EUR][1000 genomes]
rs72971104	0.91[EUR][1000 genomes]
rs72972078	0.91[EUR][1000 genomes]
rs72972082	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972084	1.00[EUR][1000 genomes]
rs72972086	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972090	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72972091	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73588649	1.00[ASN][1000 genomes]
rs73588653	1.00[ASN][1000 genomes]
rs73588664	1.00[ASN][1000 genomes]
rs73588693	1.00[ASN][1000 genomes]
rs73592692	1.00[ASN][1000 genomes]
rs7759340	1.00[ASN][1000 genomes]
rs7771630	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773248	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776405	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9321114	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375562	0.86[EUR][1000 genomes]
rs9402035	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128602400-128632400	Weak transcription	Pancreas	Pancrea
2	chr6:128603000-128642800	Weak transcription	Fetal Intestine Large	intestine
3	chr6:128604400-128633200	Weak transcription	Fetal Thymus	thymus
4	chr6:128609000-128646000	Weak transcription	NH-A	brain
5	chr6:128610800-128643200	Weak transcription	NHEK	skin
6	chr6:128613200-128640800	Weak transcription	HepG2	liver
7	chr6:128621800-128649000	Weak transcription	HSMMtube	muscle
8	chr6:128625200-128642600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:128626000-128631800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:128626000-128643000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:128626200-128645800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:128626600-128641400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:128627800-128642800	Weak transcription	HSMM	muscle
14	chr6:128627800-128649000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:128629200-128632800	Weak transcription	NHDF-Ad	bronchial
16	chr6:128629800-128632200	Enhancers	Gastric	stomach
17	chr6:128630400-128632000	Enhancers	Brain Hippocampus Middle	brain
18	chr6:128630600-128631800	Enhancers	Brain Substantia Nigra	brain
19	chr6:128630600-128632000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:128630600-128632200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr6:128630600-128632800	Enhancers	Fetal Heart	heart
22	chr6:128630600-128635000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:128631000-128632000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr6:128631000-128632200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:128631200-128631800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:128631200-128631800	Enhancers	Stomach Mucosa	stomach
27	chr6:128631200-128632000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:128631200-128632000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:128631200-128632000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:128631200-128632000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr6:128631200-128632000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:128631200-128632000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr6:128631200-128632200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:128631200-128632200	Enhancers	Brain Angular Gyrus	brain
35	chr6:128631200-128632200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr6:128631400-128631800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:128631400-128631800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:128631400-128632000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:128631400-128632000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:128631400-128632000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr6:128631400-128632000	Enhancers	Brain Anterior Caudate	brain
42	chr6:128631400-128632200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:128631400-128632600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr6:128631400-128645200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr6:128631600-128631800	Enhancers	Aorta	Aorta
46	chr6:128631600-128631800	Enhancers	Lung	lung
47	chr6:128631600-128631800	Weak transcription	Ovary	ovary
48	chr6:128631600-128632000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:128631600-128632000	Enhancers	Psoas Muscle	Psoas
50	chr6:128631600-128632000	Enhancers	Right Ventricle	heart

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