Variant report

Variant	rs17430452
Chromosome Location	chr6:128614062-128614063
allele	A/G
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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965122	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965141	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966128	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339189	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1339196	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416517	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1538498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1612415	1.00[CEU][hapmap];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	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055574	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17055596	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17055597	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055601	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055604	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055608	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055611	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055612	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055616	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055617	0.84[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055618	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055619	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055628	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055630	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055679	1.00[EUR][1000 genomes]
rs17055689	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17055706	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17055717	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17055719	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17055727	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17055733	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17343887	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17350133	1.00[ASN][1000 genomes]
rs17350286	1.00[ASN][1000 genomes]
rs17353545	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17430131	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17456343	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17456385	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17456601	1.00[CEU][hapmap];0.88[YRI][hapmap];0.92[AFR][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	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027311	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4267969	1.00[EUR][1000 genomes]
rs4466261	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs55700986	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55969073	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56095177	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs56241890	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	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933821	1.00[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967021	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967039	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72967046	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];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	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72967074	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967078	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967081	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967087	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967090	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969051	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969054	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969059	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969061	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969063	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969067	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969070	1.00[EUR][1000 genomes]
rs72969074	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	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969090	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969093	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969097	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	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72972078	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72972082	1.00[EUR][1000 genomes]
rs72972084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972086	1.00[EUR][1000 genomes]
rs72972090	0.89[EUR][1000 genomes]
rs72972091	0.91[EUR][1000 genomes]
rs72974006	0.91[AFR][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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773248	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776405	1.00[EUR][1000 genomes]
rs9321114	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375562	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs9402035	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs9491939	0.85[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128585200-128617600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:128593000-128631600	Weak transcription	Left Ventricle	heart
3	chr6:128596800-128623600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:128597800-128625000	Weak transcription	HSMM	muscle
5	chr6:128598600-128621200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:128602400-128632400	Weak transcription	Pancreas	Pancrea
7	chr6:128603000-128617200	Weak transcription	Fetal Intestine Small	intestine
8	chr6:128603000-128642800	Weak transcription	Fetal Intestine Large	intestine
9	chr6:128604400-128630600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:128604400-128633200	Weak transcription	Fetal Thymus	thymus
11	chr6:128605600-128616600	Weak transcription	Ovary	ovary
12	chr6:128605800-128627400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:128605800-128631200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:128606200-128630600	Weak transcription	Fetal Heart	heart
15	chr6:128606400-128616600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:128609000-128646000	Weak transcription	NH-A	brain
17	chr6:128610800-128643200	Weak transcription	NHEK	skin
18	chr6:128612400-128614200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:128612800-128630400	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:128613000-128616400	Weak transcription	Gastric	stomach
21	chr6:128613200-128640800	Weak transcription	HepG2	liver

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