Variant report

Variant	rs6434182
Chromosome Location	chr2:187360440-187360441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:187360005-187360828	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187360313..187361827-chr2:187456108..187458564,2	K562	blood:

Variant related genes	Relation type
ENSG00000213953	TF binding region

Extended variants
information (count: 119 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10172850	0.87[ASN][1000 genomes]
rs10192067	0.80[ASN][1000 genomes]
rs10210844	0.95[JPT][hapmap]
rs1026118	0.95[JPT][hapmap]
rs10804004	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931245	0.82[ASN][1000 genomes]
rs11673938	0.82[ASN][1000 genomes]
rs12467891	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12469301	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12470370	0.91[EUR][1000 genomes]
rs12473076	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12476313	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12478370	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12612249	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12614800	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12615675	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12623611	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12993773	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12997583	0.95[JPT][hapmap]
rs12998229	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12999247	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12999438	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13001360	0.80[AMR][1000 genomes]
rs13003337	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13009502	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13011581	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13015996	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13016181	0.83[ASN][1000 genomes]
rs13016273	0.82[AFR][1000 genomes]
rs13017038	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13018154	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13018467	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13023992	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13024310	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13025505	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13029473	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13029766	0.93[ASN][1000 genomes]
rs13029818	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13029980	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13030324	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13421394	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1349154	0.95[JPT][hapmap]
rs1375326	0.83[ASN][1000 genomes]
rs1448854	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs1448856	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1448858	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1451874	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1470230	0.87[ASN][1000 genomes]
rs1562646	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs1975594	0.85[ASN][1000 genomes]
rs2044919	0.86[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2084485	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2084486	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2119865	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2122087	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2305409	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs3768775	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs3768776	0.82[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4144785	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4144786	0.87[ASN][1000 genomes]
rs4144822	0.82[ASN][1000 genomes]
rs4271735	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4341896	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4363995	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4430906	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4569437	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4608482	0.86[EUR][1000 genomes]
rs4666703	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4666704	0.83[ASN][1000 genomes]
rs4666705	0.84[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4667090	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4667092	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4667093	0.82[ASN][1000 genomes]
rs4667094	0.82[ASN][1000 genomes]
rs4667095	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667097	0.85[ASN][1000 genomes]
rs4667098	0.84[ASN][1000 genomes]
rs4667099	0.86[ASN][1000 genomes]
rs4667100	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4667101	0.87[ASN][1000 genomes]
rs4667102	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4667103	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56347348	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6434179	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6434181	0.83[ASN][1000 genomes]
rs6434183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434184	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6704957	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6712627	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6715735	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6717081	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs6732188	0.85[ASN][1000 genomes]
rs6732449	0.84[ASN][1000 genomes]
rs6734700	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6740632	0.83[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs6741184	0.87[ASN][1000 genomes]
rs6747289	0.86[ASN][1000 genomes]
rs6749314	0.85[ASN][1000 genomes]
rs6754179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7556814	0.85[ASN][1000 genomes]
rs7562659	0.83[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7568700	0.95[JPT][hapmap]
rs7570883	0.86[ASN][1000 genomes]
rs7573296	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7576323	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7579391	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7580038	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7581081	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7581978	0.86[AMR][1000 genomes]
rs7582052	0.81[ASN][1000 genomes]
rs7586276	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7587410	0.84[ASN][1000 genomes]
rs7591153	0.86[MEX][hapmap];0.86[TSI][hapmap]
rs7593093	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7595269	0.85[ASN][1000 genomes]
rs7597285	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs988110	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6434182	ITGAV	cis	parietal	SCAN
rs6434182	KIAA0391	trans	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187351800-187361000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:187351800-187362600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:187352200-187365400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:187352200-187365400	Weak transcription	Lung	lung
5	chr2:187352600-187360800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:187352600-187360800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:187352600-187362600	Weak transcription	HSMMtube	muscle
8	chr2:187353400-187361800	Weak transcription	Fetal Heart	heart
9	chr2:187353600-187361200	Weak transcription	Fetal Brain Male	brain
10	chr2:187353600-187362600	Weak transcription	Fetal Stomach	stomach
11	chr2:187353800-187360800	Weak transcription	Brain Germinal Matrix	brain
12	chr2:187353800-187361000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:187353800-187361000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:187353800-187362600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:187354000-187365200	Weak transcription	Thymus	Thymus
16	chr2:187354600-187360800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:187355400-187362600	Weak transcription	Aorta	Aorta
18	chr2:187355600-187360800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:187355600-187361000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:187355600-187361000	Weak transcription	Ovary	ovary
21	chr2:187355600-187365400	Weak transcription	Gastric	stomach
22	chr2:187355600-187365400	Weak transcription	Spleen	Spleen
23	chr2:187355600-187369000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:187355800-187370200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:187356000-187361000	Weak transcription	Fetal Intestine Small	intestine
26	chr2:187356400-187360800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:187356800-187368400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:187357000-187360800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:187357000-187362600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:187357000-187379000	Strong transcription	Fetal Thymus	thymus
31	chr2:187357200-187361000	Weak transcription	Small Intestine	intestine
32	chr2:187357400-187383000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr2:187357600-187382600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:187357600-187386200	Strong transcription	Dnd41	blood
35	chr2:187358000-187361000	Weak transcription	Brain Angular Gyrus	brain
36	chr2:187358200-187362600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:187358200-187379000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr2:187358400-187362600	Weak transcription	Brain Substantia Nigra	brain
39	chr2:187358400-187366800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:187358400-187367200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr2:187358600-187360800	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:187358600-187361200	Strong transcription	K562	blood
43	chr2:187358600-187362000	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:187358600-187362600	Weak transcription	Pancreas	Pancrea
45	chr2:187358600-187379000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:187358600-187385800	Weak transcription	Esophagus	oesophagus
47	chr2:187358800-187360800	Weak transcription	Primary T cells from cord blood	blood
48	chr2:187358800-187360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:187358800-187361000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:187358800-187361000	Weak transcription	Right Ventricle	heart

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