Variant report

Variant	rs2190253
Chromosome Location	chr7:122383367-122383368
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	chr7:122382528..122384037-chr7:122398742..122400591,2	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs1023535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[ASN][1000 genomes]
rs10249372	0.84[ASN][1000 genomes]
rs10487749	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10487750	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10493126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12534868	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12538235	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.90[ASN][1000 genomes]
rs12540674	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs12706436	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706442	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12706443	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12706444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12706445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12706451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12706453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12706454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13224091	0.86[ASN][1000 genomes]
rs13224552	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.86[ASN][1000 genomes]
rs13226818	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13227070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13227173	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13227288	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13227529	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13232111	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13233113	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13233633	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13235728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13236261	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13239193	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs13239280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13240237	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];0.86[ASN][1000 genomes]
rs13245411	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs13246664	0.86[ASN][1000 genomes]
rs1548619	0.86[ASN][1000 genomes]
rs16870873	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17144817	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17144854	0.86[ASN][1000 genomes]
rs17144859	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17144881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[ASN][1000 genomes]
rs17144891	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17144901	0.86[ASN][1000 genomes]
rs17144907	0.86[ASN][1000 genomes]
rs17144922	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17144926	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17144928	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17144934	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17144937	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17144940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17144942	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17144945	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17144947	1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17144949	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17144969	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];0.86[ASN][1000 genomes]
rs17145014	0.84[ASN][1000 genomes]
rs17145052	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[ASN][1000 genomes]
rs17145065	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2097912	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2190252	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2190256	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2190257	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2190259	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2214844	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2402621	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2402622	0.86[ASN][1000 genomes]
rs34102364	0.86[ASN][1000 genomes]
rs34296287	0.82[ASN][1000 genomes]
rs34381122	0.84[ASN][1000 genomes]
rs34474462	0.86[ASN][1000 genomes]
rs34509989	0.83[ASN][1000 genomes]
rs34582081	0.86[ASN][1000 genomes]
rs34627169	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34648595	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34824430	0.84[ASN][1000 genomes]
rs34893488	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35036249	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35145747	0.83[ASN][1000 genomes]
rs35335008	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35387381	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35474147	0.90[ASN][1000 genomes]
rs35508723	0.86[ASN][1000 genomes]
rs35521156	0.81[ASN][1000 genomes]
rs35808900	0.86[ASN][1000 genomes]
rs35817302	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35918217	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35931003	0.86[ASN][1000 genomes]
rs36108447	0.86[ASN][1000 genomes]
rs36122169	0.86[ASN][1000 genomes]
rs36199206	0.84[ASN][1000 genomes]
rs4292628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4360221	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4464881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4475406	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[ASN][1000 genomes]
rs4585687	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[ASN][1000 genomes]
rs4607548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56295954	0.86[ASN][1000 genomes]
rs57376495	0.86[ASN][1000 genomes]
rs60038458	0.86[ASN][1000 genomes]
rs60110967	0.86[ASN][1000 genomes]
rs62482470	0.86[ASN][1000 genomes]
rs62482471	0.84[ASN][1000 genomes]
rs62482485	0.86[ASN][1000 genomes]
rs62483614	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62483615	0.86[ASN][1000 genomes]
rs62483617	0.86[ASN][1000 genomes]
rs67402535	0.82[ASN][1000 genomes]
rs67590838	0.86[ASN][1000 genomes]
rs68012966	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6944532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[ASN][1000 genomes]
rs6947532	0.82[CHB][hapmap];0.88[MKK][hapmap];0.82[YRI][hapmap]
rs6959882	0.82[CHB][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6960106	0.86[ASN][1000 genomes]
rs6963799	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6966490	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs71574720	0.86[ASN][1000 genomes]
rs71574721	0.84[ASN][1000 genomes]
rs7782606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787372	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap];0.86[ASN][1000 genomes]
rs7802395	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs972621	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs981321	0.82[CHB][hapmap]
rs982272	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs990625	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.84[YRI][hapmap];0.86[ASN][1000 genomes]
rs9918663	1.00[JPT][hapmap]
rs996797	0.86[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2190253	NDUFA5	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122366000-122384200	Weak transcription	Pancreas	Pancrea
2	chr7:122372000-122386600	Weak transcription	Ovary	ovary
3	chr7:122378000-122393400	Weak transcription	Fetal Lung	lung
4	chr7:122378200-122383400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:122378200-122391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:122379800-122383400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:122380000-122387000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:122380200-122383400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:122382600-122384000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:122382600-122384200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:122382600-122384800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:122382600-122387600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:122382800-122384400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:122383000-122383800	Enhancers	NHEK	skin
15	chr7:122383200-122383800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:122383200-122384200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:122383200-122384400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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