Variant report

Variant	rs7586276
Chromosome Location	chr2:187368072-187368073
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187365870..187368729-chr2:187369897..187372520,4	K562	blood:
2	chr2:187367976..187370185-chr2:187454691..187457440,2	MCF-7	breast:
3	chr2:187352868..187356509-chr2:187367066..187369424,5	K562	blood:

Variant related genes	Relation type
ENSG00000224323	Chromatin interaction
ENSG00000065548	Chromatin interaction
ENSG00000138448	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10172850	0.85[ASN][1000 genomes]
rs10210844	0.95[JPT][hapmap]
rs1026118	0.95[JPT][hapmap]
rs10804004	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10931245	0.80[ASN][1000 genomes]
rs11673938	0.80[ASN][1000 genomes]
rs12467891	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12469301	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];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12476313	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12478370	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12612249	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12614800	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12615675	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12623611	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12993773	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12997583	0.95[JPT][hapmap]
rs12998229	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12999247	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12999438	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13003337	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13009502	0.85[EUR][1000 genomes]
rs13011581	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13015996	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13016181	0.81[ASN][1000 genomes]
rs13017038	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13018154	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13018467	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13023992	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13024310	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13025505	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13029473	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13029766	0.91[ASN][1000 genomes]
rs13029818	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13029980	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13030324	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13421394	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1349154	0.95[JPT][hapmap]
rs1375326	0.81[ASN][1000 genomes]
rs1448854	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs1448856	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1448858	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1451874	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[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];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1470230	0.85[ASN][1000 genomes]
rs1562646	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs1975594	0.83[ASN][1000 genomes]
rs2044919	0.86[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2084485	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2084486	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119865	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2122087	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2305409	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs3768775	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs3768776	0.84[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4144785	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4144786	0.85[ASN][1000 genomes]
rs4144822	0.80[ASN][1000 genomes]
rs4271735	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4341896	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4363995	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4430906	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4569437	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4608482	0.86[EUR][1000 genomes]
rs4666703	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4666704	0.82[ASN][1000 genomes]
rs4666705	0.84[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4667090	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4667092	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4667095	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4667097	0.83[ASN][1000 genomes]
rs4667098	0.82[ASN][1000 genomes]
rs4667099	0.84[ASN][1000 genomes]
rs4667100	0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4667101	0.85[ASN][1000 genomes]
rs4667102	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4667103	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56347348	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6434179	0.88[ASW][hapmap];1.00[CEU][hapmap];0.91[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];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6434181	0.81[ASN][1000 genomes]
rs6434182	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]
rs6434183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6434184	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6704957	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6712627	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6715735	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6717081	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs6732188	0.83[ASN][1000 genomes]
rs6732449	0.82[ASN][1000 genomes]
rs6734700	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6740632	0.82[CHD][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs6741184	0.85[ASN][1000 genomes]
rs6747289	0.84[ASN][1000 genomes]
rs6749314	0.83[ASN][1000 genomes]
rs6754179	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7556814	0.83[ASN][1000 genomes]
rs7562659	0.82[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7568700	0.95[JPT][hapmap]
rs7570883	0.84[ASN][1000 genomes]
rs7573296	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7576323	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7579391	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7580038	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[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];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7581978	0.85[AMR][1000 genomes]
rs7587410	0.82[ASN][1000 genomes]
rs7591153	0.86[MEX][hapmap];0.86[TSI][hapmap]
rs7593093	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7595269	0.83[ASN][1000 genomes]
rs7597285	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs988110	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7586276	KIAA0391	trans	parietal	SCAN
rs7586276	ITGAV	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187355600-187369000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:187355800-187370200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:187356800-187368400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:187357000-187379000	Strong transcription	Fetal Thymus	thymus
5	chr2:187357400-187383000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:187357600-187382600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:187357600-187386200	Strong transcription	Dnd41	blood
8	chr2:187358200-187379000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:187358600-187379000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:187358600-187385800	Weak transcription	Esophagus	oesophagus
11	chr2:187358800-187377200	Strong transcription	HepG2	liver
12	chr2:187359000-187376000	Strong transcription	GM12878-XiMat	blood
13	chr2:187359600-187386400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:187359800-187374800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:187359800-187374800	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr2:187359800-187375000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:187359800-187379000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:187359800-187379200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:187359800-187379400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:187359800-187379800	Strong transcription	HSMM	muscle
21	chr2:187359800-187380400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:187359800-187381400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:187359800-187387200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:187360000-187368600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:187360000-187368600	Strong transcription	Adipose Nuclei	Adipose
26	chr2:187360000-187376800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:187360000-187378600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:187360000-187378800	Strong transcription	Liver	Liver
29	chr2:187360000-187379200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:187360000-187386800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:187360200-187368600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:187360200-187369200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:187360200-187374400	Strong transcription	NH-A	brain
34	chr2:187360200-187374800	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr2:187360200-187374800	Strong transcription	Fetal Intestine Large	intestine
36	chr2:187360200-187375400	Strong transcription	Primary B cells from cord blood	blood
37	chr2:187360200-187376800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:187360200-187377000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr2:187360200-187378600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:187360200-187379000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr2:187360200-187379200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:187360400-187368800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:187360400-187374800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr2:187360800-187368400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:187360800-187369000	Strong transcription	Primary hematopoietic stem cells	blood
46	chr2:187360800-187374800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:187360800-187379400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:187361200-187385600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:187361400-187370000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:187361400-187376800	Strong transcription	Osteobl	bone

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