Variant report

Variant	rs9964220
Chromosome Location	chr18:43536260-43536261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10432160	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10432197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10853537	0.85[JPT][hapmap]
rs11082498	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11082499	0.82[ASN][1000 genomes]
rs11082501	0.89[ASN][1000 genomes]
rs11661333	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs12232683	0.86[ASN][1000 genomes]
rs12454420	0.89[ASN][1000 genomes]
rs12604430	0.88[ASN][1000 genomes]
rs12604492	0.86[ASN][1000 genomes]
rs1371976	0.81[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs1573404	0.91[ASN][1000 genomes]
rs1893523	0.81[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap]
rs2004084	0.89[ASN][1000 genomes]
rs2004085	0.82[ASN][1000 genomes]
rs28430300	0.89[ASN][1000 genomes]
rs28729696	0.82[ASN][1000 genomes]
rs34775986	0.80[ASN][1000 genomes]
rs3745000	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4629066	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs475452	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs481755	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs507653	0.81[JPT][hapmap]
rs57011365	0.85[ASN][1000 genomes]
rs57531499	0.86[ASN][1000 genomes]
rs58306126	0.83[ASN][1000 genomes]
rs58312765	0.89[ASN][1000 genomes]
rs584397	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59884993	0.89[ASN][1000 genomes]
rs60288752	0.85[ASN][1000 genomes]
rs60866799	0.91[ASN][1000 genomes]
rs61363974	0.86[ASN][1000 genomes]
rs61449207	0.93[ASN][1000 genomes]
rs61680317	0.89[ASN][1000 genomes]
rs630625	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6507648	0.82[ASN][1000 genomes]
rs6507652	0.93[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs7226881	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7230104	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7231179	0.87[AMR][1000 genomes]
rs7231317	0.88[AMR][1000 genomes]
rs7234750	0.82[ASN][1000 genomes]
rs7235022	0.82[ASN][1000 genomes]
rs7235629	0.91[ASN][1000 genomes]
rs7238724	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7242733	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72918390	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73953913	0.82[ASN][1000 genomes]
rs73953914	0.82[ASN][1000 genomes]
rs8086401	0.85[ASN][1000 genomes]
rs8087546	0.91[ASN][1000 genomes]
rs8088153	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8093119	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8094023	0.82[ASN][1000 genomes]
rs8097415	0.86[ASN][1000 genomes]
rs8098012	0.80[ASN][1000 genomes]
rs8098175	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8098701	0.82[ASN][1000 genomes]
rs8099496	0.85[JPT][hapmap]
rs9946797	0.82[ASN][1000 genomes]
rs9946933	0.82[ASN][1000 genomes]
rs9948634	0.90[AMR][1000 genomes]
rs9948988	0.83[ASN][1000 genomes]
rs9955285	0.93[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs9955829	0.80[ASN][1000 genomes]
rs9957288	0.85[ASN][1000 genomes]
rs9958844	0.88[ASN][1000 genomes]
rs9959763	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9959893	0.82[ASN][1000 genomes]
rs9962353	0.80[ASN][1000 genomes]
rs9963463	0.93[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs9964347	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9965433	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909588	chr18:43474795-43554371	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9964220	KIAA1632	cis	Lymphoblastoid	GTEx
rs9964220	KIAA1632	cis	lymphoblastoid	seeQTL
rs9964220	ATP5A1	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43472000-43536800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr18:43477800-43536800	Strong transcription	Primary T cells from cord blood	blood
3	chr18:43478000-43536600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:43492400-43546600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:43494000-43546600	Weak transcription	Stomach Mucosa	stomach
6	chr18:43512200-43536400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr18:43514400-43536400	Strong transcription	Dnd41	blood
8	chr18:43514400-43537000	Strong transcription	Primary B cells from cord blood	blood
9	chr18:43514600-43536400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:43518600-43536400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr18:43519200-43546600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:43519800-43536400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr18:43519800-43539400	Weak transcription	A549	lung
14	chr18:43520400-43536400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr18:43528600-43540000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr18:43529000-43546400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr18:43530400-43536400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr18:43531200-43537000	Genic enhancers	Osteobl	bone
19	chr18:43531800-43536400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr18:43532200-43536400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr18:43533800-43536400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr18:43534200-43537200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr18:43534200-43545600	Weak transcription	Fetal Brain Male	brain
24	chr18:43534400-43537800	Genic enhancers	HSMM	muscle
25	chr18:43534400-43540800	Weak transcription	Fetal Heart	heart
26	chr18:43534600-43546600	Weak transcription	Gastric	stomach
27	chr18:43534800-43536400	Genic enhancers	NHDF-Ad	bronchial
28	chr18:43535000-43546400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr18:43535000-43546400	Weak transcription	GM12878-XiMat	blood
30	chr18:43535200-43536400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:43535200-43536400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr18:43535200-43536400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr18:43535200-43536600	Genic enhancers	Muscle Satellite Cultured Cells	--
34	chr18:43535200-43536600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr18:43535200-43537000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:43535200-43537400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr18:43535200-43537600	Weak transcription	Ovary	ovary
38	chr18:43535200-43538800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr18:43535200-43538800	Weak transcription	Left Ventricle	heart
40	chr18:43535200-43538800	Weak transcription	Psoas Muscle	Psoas
41	chr18:43535200-43539200	Weak transcription	Pancreas	Pancrea
42	chr18:43535200-43540200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr18:43535200-43540200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr18:43535200-43540200	Weak transcription	Thymus	Thymus
45	chr18:43535200-43541000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr18:43535200-43541000	Weak transcription	Aorta	Aorta
47	chr18:43535200-43541000	Weak transcription	Esophagus	oesophagus
48	chr18:43535200-43541000	Weak transcription	Lung	lung
49	chr18:43535200-43542000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr18:43535200-43542000	Weak transcription	H9 Cell Line	embryonic stem cell

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