Variant report

Variant	rs6931769
Chromosome Location	chr6:128643529-128643530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs11753971	1.00[ASN][1000 genomes]
rs11964875	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965122	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965141	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966128	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339189	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1339193	0.82[CEU][hapmap]
rs1339196	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416517	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1538498	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1612415	1.00[CEU][hapmap];0.83[EUR][1000 genomes];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	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055574	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs17055596	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs17055597	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055601	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055604	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055608	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055611	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055612	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055616	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055617	0.84[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055618	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055619	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055628	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055630	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055679	0.98[EUR][1000 genomes]
rs17055689	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17055706	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17055717	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17055719	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs17055727	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17055733	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17343887	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs17350133	1.00[ASN][1000 genomes]
rs17350286	1.00[ASN][1000 genomes]
rs17353545	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17430131	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17430452	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17456343	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs17456385	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs17456601	1.00[CEU][hapmap];0.98[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[CEU][hapmap];1.00[ASN][1000 genomes]
rs2027311	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4267969	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4466261	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs55700986	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55969073	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56095177	0.92[EUR][1000 genomes]
rs56241890	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57318936	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59132771	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60915390	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6420738	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913718	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6933821	1.00[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967021	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967026	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967039	0.98[EUR][1000 genomes]
rs72967046	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967053	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967056	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967058	0.98[EUR][1000 genomes]
rs72967074	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967081	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967087	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967090	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969051	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969054	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969059	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969061	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969063	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969067	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969070	0.98[EUR][1000 genomes]
rs72969074	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969075	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969081	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969088	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969090	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969093	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969097	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969098	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72971103	0.98[EUR][1000 genomes]
rs72971104	0.89[EUR][1000 genomes]
rs72972078	0.89[EUR][1000 genomes]
rs72972082	0.98[EUR][1000 genomes]
rs72972084	0.98[EUR][1000 genomes]
rs72972086	0.98[EUR][1000 genomes]
rs72972090	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72972091	0.89[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	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773248	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776405	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9321114	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375562	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs9402035	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs9491939	0.85[CEU][hapmap]
rs953549	0.84[CEU][hapmap]

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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128609000-128646000	Weak transcription	NH-A	brain
2	chr6:128621800-128649000	Weak transcription	HSMMtube	muscle
3	chr6:128626200-128645800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:128627800-128649000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:128631400-128645200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:128631600-128648600	Weak transcription	Fetal Intestine Small	intestine
7	chr6:128631800-128649000	Weak transcription	Aorta	Aorta
8	chr6:128632000-128644800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:128632000-128649000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:128632000-128650600	Weak transcription	Psoas Muscle	Psoas
11	chr6:128632000-128650800	Weak transcription	Right Ventricle	heart
12	chr6:128632000-128658000	Weak transcription	Ovary	ovary
13	chr6:128632200-128665200	Weak transcription	Gastric	stomach
14	chr6:128633600-128649000	Weak transcription	Fetal Thymus	thymus
15	chr6:128635600-128672000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:128635800-128654200	Weak transcription	Liver	Liver
17	chr6:128637800-128645000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:128639000-128660600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr6:128639000-128660800	Weak transcription	Small Intestine	intestine
20	chr6:128639200-128644800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:128639400-128648800	Weak transcription	HUVEC	blood vessel
22	chr6:128639800-128659000	Weak transcription	Fetal Stomach	stomach
23	chr6:128640000-128653200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:128640000-128660600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr6:128640200-128645200	Enhancers	Brain Hippocampus Middle	brain
26	chr6:128640600-128649000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:128640600-128649000	Weak transcription	Primary T cells from cord blood	blood
28	chr6:128641200-128643600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:128641200-128645400	Enhancers	Brain Substantia Nigra	brain
30	chr6:128641400-128644000	Weak transcription	HMEC	breast
31	chr6:128641400-128649000	Weak transcription	Fetal Lung	lung
32	chr6:128641400-128661400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:128641600-128645400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:128641800-128644000	Weak transcription	Brain Anterior Caudate	brain
35	chr6:128641800-128645000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:128641800-128657600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:128642000-128644000	Weak transcription	Brain Angular Gyrus	brain
38	chr6:128642000-128644000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:128642000-128644400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:128642000-128644600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr6:128642000-128649000	Weak transcription	Left Ventricle	heart
42	chr6:128642000-128657000	Weak transcription	HepG2	liver
43	chr6:128642200-128644000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:128642200-128645600	Weak transcription	Fetal Heart	heart
45	chr6:128643000-128643800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:128643200-128645600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:128643400-128648600	Weak transcription	Fetal Intestine Large	intestine
48	chr6:128643400-128649000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:128643400-128649000	Weak transcription	HSMM	muscle
50	chr6:128643400-128659000	Weak transcription	NHEK	skin

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