Variant report

Variant	rs632185
Chromosome Location	chr11:59951433-59951434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs107903	0.93[CEU][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs10897011	0.85[EUR][1000 genomes]
rs11230180	0.85[EUR][1000 genomes]
rs1125357	0.81[CEU][hapmap]
rs11605427	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs12453	0.89[CEU][hapmap];0.83[GIH][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs1303615	0.93[CEU][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs1303621	0.93[CEU][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs1441586	0.93[CEU][hapmap];0.83[JPT][hapmap]
rs17529983	0.81[CEU][hapmap]
rs17602572	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs1820430	0.85[EUR][1000 genomes]
rs1834549	0.85[EUR][1000 genomes]
rs1834550	0.84[EUR][1000 genomes]
rs1834551	0.84[EUR][1000 genomes]
rs1834557	0.84[EUR][1000 genomes]
rs2081545	0.85[EUR][1000 genomes]
rs2278867	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2847663	0.85[CEU][hapmap]
rs2847667	0.88[CEU][hapmap]
rs476722	0.93[CEU][hapmap];0.83[JPT][hapmap]
rs483629	0.84[EUR][1000 genomes]
rs502419	0.93[CEU][hapmap];0.83[JPT][hapmap]
rs502581	0.93[CEU][hapmap];0.83[JPT][hapmap];0.81[MEX][hapmap]
rs504272	0.84[EUR][1000 genomes]
rs510518	0.84[EUR][1000 genomes]
rs512495	0.81[EUR][1000 genomes]
rs514266	0.82[EUR][1000 genomes]
rs516478	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs521952	0.92[CEU][hapmap];0.83[JPT][hapmap]
rs525794	0.93[CEU][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs534273	0.84[EUR][1000 genomes]
rs540170	0.93[CEU][hapmap];0.83[JPT][hapmap];0.81[MEX][hapmap];0.82[EUR][1000 genomes]
rs555635	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs556917	0.93[CEU][hapmap];0.83[JPT][hapmap]
rs56201148	0.85[EUR][1000 genomes]
rs563803	0.82[EUR][1000 genomes]
rs564912	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs569046	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs574695	0.93[CEU][hapmap];0.83[JPT][hapmap];0.81[MEX][hapmap];0.82[EUR][1000 genomes]
rs574704	0.92[CEU][hapmap];0.83[JPT][hapmap]
rs574798	0.82[EUR][1000 genomes]
rs580064	0.82[CEU][hapmap]
rs581133	0.93[CEU][hapmap];0.83[JPT][hapmap];0.81[MEX][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs583296	0.93[CEU][hapmap];0.83[JPT][hapmap];0.81[MEX][hapmap]
rs583791	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs595481	0.92[CEU][hapmap]
rs602396	0.93[CEU][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs606588	0.95[CEU][hapmap];0.86[JPT][hapmap]
rs610932	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs617135	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs617916	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs624663	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs631853	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs634475	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs636147	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs652354	0.89[CEU][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs662196	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs667897	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs684961	0.92[CEU][hapmap];0.94[JPT][hapmap]
rs688030	0.92[CEU][hapmap];0.83[JPT][hapmap]
rs72918674	0.86[EUR][1000 genomes]
rs7926344	0.83[EUR][1000 genomes]
rs7926354	0.83[EUR][1000 genomes]
rs7926729	0.83[EUR][1000 genomes]
rs7926954	0.82[EUR][1000 genomes]
rs7933202	0.89[CEU][hapmap]
rs7935829	0.89[CEU][hapmap];0.83[GIH][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs7946992	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468579	chr11:59814287-59975400	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv555150	chr11:59814287-59975400	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv832174	chr11:59909267-60073908	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs632185	MTA2	cis	cerebellum	SCAN
rs632185	GNG3	cis	parietal	SCAN
rs632185	SLC43A3	cis	parietal	SCAN
rs632185	FRY	trans	cerebellum	SCAN
rs632185	FAM111A	cis	parietal	SCAN
rs632185	SNORD27	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59946800-59952000	Active TSS	Adipose Nuclei	Adipose
2	chr11:59947600-59953000	Enhancers	Fetal Intestine Small	intestine
3	chr11:59949800-59952000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:59950000-59951600	Enhancers	HUVEC	blood vessel
5	chr11:59950000-59954800	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:59950400-59952600	Enhancers	Primary hematopoietic stem cells	blood
7	chr11:59950400-59954600	Enhancers	Fetal Intestine Large	intestine
8	chr11:59950600-59951600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr11:59950600-59951800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:59950600-59951800	Weak transcription	Liver	Liver
11	chr11:59950600-59954600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr11:59950800-59951600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:59950800-59961200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:59951000-59951600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr11:59951000-59954200	Enhancers	GM12878-XiMat	blood
16	chr11:59951000-59954600	Enhancers	Primary B cells from cord blood	blood
17	chr11:59951200-59951600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr11:59951400-59951600	Enhancers	Right Atrium	heart
19	chr11:59951400-59952000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:59951400-59952000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:59951400-59952000	Enhancers	Spleen	Spleen
22	chr11:59951400-59952600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:59951400-59952600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:59951400-59952600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:59951400-59954200	Enhancers	K562	blood

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