Variant report

Variant	rs72969081
Chromosome Location	chr6:128638880-128638881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs11753971	1.00[ASN][1000 genomes]
rs11964875	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965122	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965141	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966128	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339189	0.91[EUR][1000 genomes]
rs1339196	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416517	0.93[EUR][1000 genomes]
rs1538498	0.91[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	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055574	0.91[EUR][1000 genomes]
rs17055596	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17055597	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055601	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055604	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055608	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055611	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055612	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055616	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055617	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055618	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055619	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055628	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055630	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055679	0.91[EUR][1000 genomes]
rs17055689	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17055706	0.91[EUR][1000 genomes]
rs17055717	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17055719	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17055727	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17055733	0.91[EUR][1000 genomes]
rs17343887	0.91[EUR][1000 genomes]
rs17350133	1.00[ASN][1000 genomes]
rs17350286	1.00[ASN][1000 genomes]
rs17353545	0.93[EUR][1000 genomes]
rs17430131	1.00[ASN][1000 genomes]
rs17430452	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17456343	0.91[EUR][1000 genomes]
rs17456385	0.91[EUR][1000 genomes]
rs17456601	0.91[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	1.00[ASN][1000 genomes]
rs2027311	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4267969	0.91[EUR][1000 genomes]
rs4466261	0.94[EUR][1000 genomes]
rs55700986	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55969073	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56095177	0.86[EUR][1000 genomes]
rs56241890	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57318936	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59132771	0.91[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	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6931769	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933821	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967021	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967026	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967039	0.91[EUR][1000 genomes]
rs72967046	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967053	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967056	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967058	0.91[EUR][1000 genomes]
rs72967074	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967078	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967081	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967087	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967090	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969051	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969054	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969059	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969061	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969063	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969067	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969070	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72969074	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969088	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	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969098	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72971103	0.91[EUR][1000 genomes]
rs72971104	0.91[EUR][1000 genomes]
rs72972078	0.91[EUR][1000 genomes]
rs72972082	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72972084	0.91[EUR][1000 genomes]
rs72972086	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72972090	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72972091	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	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773248	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776405	0.91[EUR][1000 genomes]
rs9321114	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9402035	0.86[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128603000-128642800	Weak transcription	Fetal Intestine Large	intestine
2	chr6:128609000-128646000	Weak transcription	NH-A	brain
3	chr6:128610800-128643200	Weak transcription	NHEK	skin
4	chr6:128613200-128640800	Weak transcription	HepG2	liver
5	chr6:128621800-128649000	Weak transcription	HSMMtube	muscle
6	chr6:128625200-128642600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:128626000-128643000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:128626200-128645800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:128626600-128641400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:128627800-128642800	Weak transcription	HSMM	muscle
11	chr6:128627800-128649000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:128631400-128645200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:128631600-128648600	Weak transcription	Fetal Intestine Small	intestine
14	chr6:128631800-128641800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:128631800-128649000	Weak transcription	Aorta	Aorta
16	chr6:128632000-128644800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:128632000-128649000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:128632000-128650600	Weak transcription	Psoas Muscle	Psoas
19	chr6:128632000-128650800	Weak transcription	Right Ventricle	heart
20	chr6:128632000-128658000	Weak transcription	Ovary	ovary
21	chr6:128632200-128665200	Weak transcription	Gastric	stomach
22	chr6:128633400-128641000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:128633600-128641200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:128633600-128649000	Weak transcription	Fetal Thymus	thymus
25	chr6:128634000-128641800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:128634400-128639200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr6:128634400-128639400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:128634400-128640600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:128634600-128641400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:128635600-128672000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:128635800-128639600	Weak transcription	Fetal Heart	heart
32	chr6:128635800-128654200	Weak transcription	Liver	Liver
33	chr6:128636000-128643400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr6:128636200-128640800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:128637600-128640200	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:128637600-128641200	Weak transcription	Brain Angular Gyrus	brain
37	chr6:128637600-128641800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:128637800-128640200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:128637800-128645000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:128638200-128641200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:128638400-128639400	Enhancers	Brain Anterior Caudate	brain
42	chr6:128638400-128640400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:128638600-128641200	Weak transcription	Brain Substantia Nigra	brain
44	chr6:128638800-128639400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr6:128638800-128639400	Enhancers	HUVEC	blood vessel
46	chr6:128638800-128642000	Enhancers	Brain Inferior Temporal Lobe	brain

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