Variant report

Variant	rs17430131
Chromosome Location	chr6:128602796-128602797
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs11753971	1.00[ASN][1000 genomes]
rs11964875	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965122	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965141	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966128	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339189	1.00[CEU][hapmap]
rs1339196	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416517	1.00[CEU][hapmap]
rs1538498	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1612415	1.00[CEU][hapmap];0.98[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];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055574	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17055596	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17055597	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055601	1.00[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055604	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055608	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055611	1.00[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055612	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055616	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055617	0.84[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055618	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055619	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055628	1.00[ASN][1000 genomes]
rs17055630	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055679	0.83[EUR][1000 genomes]
rs17055689	1.00[CEU][hapmap]
rs17055706	1.00[CEU][hapmap]
rs17055717	1.00[CEU][hapmap]
rs17055719	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17055727	1.00[CEU][hapmap]
rs17055733	1.00[CEU][hapmap]
rs17343887	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17350133	1.00[ASN][1000 genomes]
rs17350286	1.00[ASN][1000 genomes]
rs17353545	1.00[CEU][hapmap]
rs17430452	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];0.83[EUR][1000 genomes]
rs17456385	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17456601	1.00[CEU][hapmap];0.83[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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027311	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4267969	0.83[EUR][1000 genomes]
rs4466261	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs55700986	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55969073	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56241890	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57318936	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59132771	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60915390	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6420738	1.00[ASN][1000 genomes]
rs6913718	0.81[EUR][1000 genomes]
rs6931769	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933821	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967021	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967026	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967039	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72967046	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967053	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967056	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967058	0.83[EUR][1000 genomes]
rs72967074	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967078	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967081	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967087	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967090	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969051	1.00[ASN][1000 genomes]
rs72969054	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969059	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969061	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969063	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969067	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969070	0.83[EUR][1000 genomes]
rs72969074	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969075	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969078	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969081	1.00[ASN][1000 genomes]
rs72969088	1.00[ASN][1000 genomes]
rs72969090	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72969093	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72969097	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969098	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72971103	0.83[EUR][1000 genomes]
rs72971104	0.92[AMR][1000 genomes]
rs72972078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72972082	0.83[EUR][1000 genomes]
rs72972084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72972086	0.83[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];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773248	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7776405	0.83[EUR][1000 genomes]
rs9321114	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375562	0.85[CEU][hapmap]
rs9402035	0.92[CEU][hapmap]
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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128585200-128617600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:128588000-128608200	Weak transcription	Aorta	Aorta
3	chr6:128592800-128605200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:128593000-128603200	Weak transcription	Stomach Mucosa	stomach
5	chr6:128593000-128609000	Weak transcription	Fetal Lung	lung
6	chr6:128593000-128631600	Weak transcription	Left Ventricle	heart
7	chr6:128595800-128608800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:128596600-128608800	Weak transcription	NH-A	brain
9	chr6:128596800-128602800	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:128596800-128607400	Weak transcription	HSMMtube	muscle
11	chr6:128596800-128623600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:128597800-128625000	Weak transcription	HSMM	muscle
13	chr6:128598200-128613800	Weak transcription	HUVEC	blood vessel
14	chr6:128598600-128621200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:128598800-128604200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:128598800-128605200	Weak transcription	Brain Substantia Nigra	brain
17	chr6:128598800-128612400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:128600200-128605000	Weak transcription	Ovary	ovary
19	chr6:128600200-128606800	Weak transcription	Right Atrium	heart
20	chr6:128601200-128606000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:128601200-128606400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr6:128601200-128607200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr6:128601400-128604600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr6:128601400-128605200	Weak transcription	Small Intestine	intestine
25	chr6:128601400-128605800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr6:128601600-128603400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr6:128601600-128603400	Enhancers	Liver	Liver
28	chr6:128601800-128603400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:128602000-128604400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:128602000-128606200	Enhancers	Fetal Heart	heart
31	chr6:128602200-128602800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:128602200-128603000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr6:128602200-128603000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr6:128602200-128603000	Enhancers	Fetal Intestine Large	intestine
35	chr6:128602200-128603000	Enhancers	Fetal Intestine Small	intestine
36	chr6:128602200-128603000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr6:128602200-128603200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:128602200-128603200	Enhancers	HepG2	liver
39	chr6:128602200-128603400	Enhancers	Psoas Muscle	Psoas
40	chr6:128602400-128602800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr6:128602400-128602800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr6:128602400-128602800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr6:128602400-128605400	Weak transcription	Gastric	stomach
44	chr6:128602400-128605800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:128602400-128632400	Weak transcription	Pancreas	Pancrea
46	chr6:128602600-128603000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr6:128602600-128604000	Enhancers	Fetal Stomach	stomach
48	chr6:128602600-128604200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr6:128602600-128604400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:128602600-128605800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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