Variant report

Variant	rs6966490
Chromosome Location	chr7:122521658-122521659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:122521246..122525169-chr7:122525278..122528321,3	MCF-7	breast:
2	chr7:122519863..122522492-chr7:122526276..122527893,3	K562	blood:

Variant related genes	Relation type
ENSG00000081803	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs1023535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10249372	0.90[ASN][1000 genomes]
rs10487749	0.92[ASN][1000 genomes]
rs10487750	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10493126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12534868	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12538235	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12540674	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs12706436	0.84[ASN][1000 genomes]
rs12706437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12706438	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12706439	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12706440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12706441	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12706442	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12706443	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12706444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12706445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12706451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12706453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12706454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13221717	0.82[ASN][1000 genomes]
rs13224091	0.92[ASN][1000 genomes]
rs13224552	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13226818	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13227070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13227173	0.92[ASN][1000 genomes]
rs13227288	0.92[ASN][1000 genomes]
rs13227529	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13232111	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13233113	0.90[ASN][1000 genomes]
rs13233385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13233633	0.85[ASN][1000 genomes]
rs13235728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13236261	0.88[ASN][1000 genomes]
rs13239193	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13239280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13240237	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13245411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13246664	0.92[ASN][1000 genomes]
rs13309209	0.82[ASN][1000 genomes]
rs1548619	0.92[ASN][1000 genomes]
rs16870873	0.92[ASN][1000 genomes]
rs17144817	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17144854	0.92[ASN][1000 genomes]
rs17144859	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17144881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17144891	0.92[ASN][1000 genomes]
rs17144901	0.92[ASN][1000 genomes]
rs17144907	0.92[ASN][1000 genomes]
rs17144922	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17144926	0.92[ASN][1000 genomes]
rs17144928	0.92[ASN][1000 genomes]
rs17144934	0.92[ASN][1000 genomes]
rs17144937	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17144940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17144942	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17144945	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17144947	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17144949	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17144969	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17145014	0.90[ASN][1000 genomes]
rs17145052	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17145065	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2097912	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2190252	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2190253	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2190256	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2190257	0.92[ASN][1000 genomes]
rs2190259	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2214844	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2402621	0.92[ASN][1000 genomes]
rs2402622	0.92[ASN][1000 genomes]
rs34102364	0.92[ASN][1000 genomes]
rs34296287	0.88[ASN][1000 genomes]
rs34381122	0.90[ASN][1000 genomes]
rs34474462	0.92[ASN][1000 genomes]
rs34509989	0.88[ASN][1000 genomes]
rs34582081	0.92[ASN][1000 genomes]
rs34627169	0.92[ASN][1000 genomes]
rs34648595	0.92[ASN][1000 genomes]
rs34824430	0.90[ASN][1000 genomes]
rs34893488	0.92[ASN][1000 genomes]
rs34938240	0.86[ASN][1000 genomes]
rs35036249	0.96[ASN][1000 genomes]
rs35145747	0.88[ASN][1000 genomes]
rs35335008	0.96[ASN][1000 genomes]
rs35387381	0.92[ASN][1000 genomes]
rs35474147	0.96[ASN][1000 genomes]
rs35508723	0.92[ASN][1000 genomes]
rs35521156	0.87[ASN][1000 genomes]
rs35808900	0.92[ASN][1000 genomes]
rs35817302	0.92[ASN][1000 genomes]
rs35918217	0.92[ASN][1000 genomes]
rs35931003	0.92[ASN][1000 genomes]
rs36108447	0.92[ASN][1000 genomes]
rs36122169	0.92[ASN][1000 genomes]
rs36199206	0.90[ASN][1000 genomes]
rs41476049	0.82[CEU][hapmap];0.83[TSI][hapmap]
rs4292628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4360221	0.92[ASN][1000 genomes]
rs4464881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4475406	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4585687	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4607548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs56295954	0.92[ASN][1000 genomes]
rs57376495	0.92[ASN][1000 genomes]
rs60038458	0.92[ASN][1000 genomes]
rs60110967	0.92[ASN][1000 genomes]
rs62482470	0.92[ASN][1000 genomes]
rs62482471	0.90[ASN][1000 genomes]
rs62482485	0.92[ASN][1000 genomes]
rs62483614	0.92[ASN][1000 genomes]
rs62483615	0.92[ASN][1000 genomes]
rs62483617	0.92[ASN][1000 genomes]
rs67402535	0.88[ASN][1000 genomes]
rs67590838	0.92[ASN][1000 genomes]
rs68012966	0.92[ASN][1000 genomes]
rs6944532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6947532	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6959882	0.82[CHB][hapmap];0.92[ASN][1000 genomes]
rs6960106	0.92[ASN][1000 genomes]
rs6963799	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6966101	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71574720	0.92[ASN][1000 genomes]
rs71574721	0.90[ASN][1000 genomes]
rs7782606	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7787372	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7802395	0.92[ASN][1000 genomes]
rs972621	0.96[ASN][1000 genomes]
rs981321	0.92[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs982272	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs990625	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs996797	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak 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	18 gene(s)	inside rSNPs	diseases
2	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv532218	chr7:122360779-122934247	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1033520	chr7:122366544-122992937	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv949059	chr7:122386967-123066042	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv948531	chr7:122386967-123191974	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv949180	chr7:122386967-123237070	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv524192	chr7:122403421-123218522	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv498124	chr7:122412493-122986259	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6966490	NDUFA5	cis	parietal	SCAN
rs6966490	ASB15	cis	parietal	SCAN
rs6966490	HYAL4	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122496200-122525600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:122498400-122522800	Weak transcription	Pancreas	Pancrea
3	chr7:122520200-122521800	Enhancers	Liver	Liver
4	chr7:122520400-122523600	Enhancers	Stomach Mucosa	stomach
5	chr7:122520600-122522200	Enhancers	HepG2	liver
6	chr7:122520600-122525400	Weak transcription	Small Intestine	intestine
7	chr7:122520800-122522800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:122520800-122525000	Weak transcription	Brain Anterior Caudate	brain
9	chr7:122521000-122521800	Enhancers	Aorta	Aorta
10	chr7:122521200-122521800	Enhancers	Duodenum Mucosa	Duodenum
11	chr7:122521200-122522000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr7:122521400-122521800	Enhancers	Gastric	stomach
13	chr7:122521400-122522200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:122521400-122522800	Weak transcription	Fetal Kidney	kidney
15	chr7:122521600-122521800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:122521600-122521800	Enhancers	Fetal Heart	heart
17	chr7:122521600-122522800	Enhancers	Fetal Lung	lung
18	chr7:122521600-122524000	Weak transcription	Right Atrium	heart
19	chr7:122521600-122524400	Weak transcription	Ovary	ovary
20	chr7:122521600-122524400	Enhancers	HUVEC	blood vessel
21	chr7:122521600-122524600	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:122521600-122525200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:122521600-122525200	Weak transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links