Variant report

Variant	rs4987982
Chromosome Location	chr11:108151269-108151270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 163 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:156)

rs_ID	r²[population]
rs1003623	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1003624	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10789659	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10890834	0.96[CEU][hapmap]
rs11212538	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs11212542	0.81[EUR][1000 genomes]
rs11212543	0.85[EUR][1000 genomes]
rs11212546	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs11212551	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs11212579	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11212617	1.00[CEU][hapmap]
rs113995	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs1150203	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11605442	0.96[CEU][hapmap];0.84[CHB][hapmap];0.87[EUR][1000 genomes]
rs12272183	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12787445	0.92[CEU][hapmap];0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs1583598	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[YRI][hapmap]
rs1607476	0.96[CEU][hapmap];0.83[CHB][hapmap];0.89[EUR][1000 genomes]
rs172894	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs172896	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs172927	0.96[EUR][1000 genomes]
rs183459	0.96[CEU][hapmap];0.83[CHB][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs183460	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1850730	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs186591	0.81[EUR][1000 genomes]
rs186595	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs189037	0.88[EUR][1000 genomes]
rs1893812	0.83[EUR][1000 genomes]
rs1893813	0.87[EUR][1000 genomes]
rs2056267	0.96[CEU][hapmap];0.80[CHB][hapmap];0.90[EUR][1000 genomes]
rs2070661	0.92[CEU][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2083707	0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[EUR][1000 genomes]
rs227040	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs227041	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs227053	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs227054	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs227055	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[YRI][hapmap]
rs227058	1.00[CEU][hapmap]
rs227061	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs227062	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs227063	0.85[EUR][1000 genomes]
rs227064	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs227066	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs227067	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs227068	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs227070	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs227072	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs227073	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs227074	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs227075	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs227076	0.85[EUR][1000 genomes]
rs227077	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs227086	0.80[EUR][1000 genomes]
rs227087	1.00[CEU][hapmap];0.81[CHB][hapmap];0.80[EUR][1000 genomes]
rs227088	0.80[EUR][1000 genomes]
rs227092	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs227093	0.80[EUR][1000 genomes]
rs227094	0.80[EUR][1000 genomes]
rs228588	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs228589	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs228590	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[EUR][1000 genomes]
rs228591	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[EUR][1000 genomes]
rs228592	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[EUR][1000 genomes]
rs228593	0.81[JPT][hapmap]
rs228594	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs228596	0.91[EUR][1000 genomes]
rs228597	0.91[EUR][1000 genomes]
rs228598	0.91[EUR][1000 genomes]
rs228599	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs228601	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs228607	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs228608	0.87[EUR][1000 genomes]
rs2356801	1.00[CEU][hapmap]
rs374443	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3781868	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs3781869	0.87[EUR][1000 genomes]
rs4027718	0.85[EUR][1000 genomes]
rs419716	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs425061	0.82[EUR][1000 genomes]
rs425538	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4585	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs4623864	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs4753833	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs4754299	0.82[EUR][1000 genomes]
rs4754301	0.85[EUR][1000 genomes]
rs4754305	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4754324	1.00[CEU][hapmap]
rs5023001	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs573890	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs582157	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs583725	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs592955	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs594153	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs595747	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs599164	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs599406	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[EUR][1000 genomes]
rs599558	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs600329	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs600691	0.95[EUR][1000 genomes]
rs600931	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[EUR][1000 genomes]
rs601111	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs605394	0.83[EUR][1000 genomes]
rs606275	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs608086	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs609261	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs609429	0.86[EUR][1000 genomes]
rs609557	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs609655	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs618499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619972	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs620613	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs621947	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs623860	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs624366	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs624852	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs624888	0.81[EUR][1000 genomes]
rs625120	0.89[EUR][1000 genomes]
rs627418	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs634268	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs637064	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs641312	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs641605	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[EUR][1000 genomes]
rs642496	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs645485	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs647681	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs650128	0.92[EUR][1000 genomes]
rs650173	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs651030	0.81[ASN][1000 genomes]
rs652311	1.00[CEU][hapmap];0.81[CHB][hapmap];0.80[EUR][1000 genomes]
rs652541	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs654005	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6589007	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs6589008	0.80[EUR][1000 genomes]
rs6589019	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[YRI][hapmap]
rs660429	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs661467	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs662218	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs662578	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs664143	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs664677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664982	0.85[EUR][1000 genomes]
rs672655	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs672964	0.95[EUR][1000 genomes]
rs673281	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs676729	0.92[EUR][1000 genomes]
rs679782	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs682131	0.81[EUR][1000 genomes]
rs694376	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs694799	0.95[EUR][1000 genomes]
rs7118967	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7395528	0.87[EUR][1000 genomes]
rs7931681	0.82[CHB][hapmap]
rs7931930	1.00[CEU][hapmap]
rs7942014	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7948117	0.81[EUR][1000 genomes]
rs9667658	1.00[CEU][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv556430	chr11:108097333-108175462	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv898384	chr11:108097333-108251211	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv898385	chr11:108123189-108165736	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv832262	chr11:108123831-108309350	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4987982	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:108096400-108156400	Weak transcription	NHLF	lung
3	chr11:108108400-108184800	Weak transcription	NHEK	skin
4	chr11:108126000-108153600	Weak transcription	HUVEC	blood vessel
5	chr11:108126200-108157600	Weak transcription	HMEC	breast
6	chr11:108129000-108155400	Weak transcription	HSMMtube	muscle
7	chr11:108131800-108209600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:108137800-108159400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:108137800-108160400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr11:108137800-108212000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:108138400-108209400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:108139200-108163400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:108139200-108208200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr11:108141200-108181800	Weak transcription	Small Intestine	intestine
15	chr11:108141800-108163600	Strong transcription	Adipose Nuclei	Adipose
16	chr11:108142600-108155400	Weak transcription	Brain Germinal Matrix	brain
17	chr11:108143000-108175800	Weak transcription	Right Ventricle	heart
18	chr11:108143000-108186600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:108143800-108154200	Weak transcription	K562	blood
20	chr11:108143800-108160400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:108143800-108175400	Weak transcription	Fetal Brain Male	brain
22	chr11:108144000-108151600	Weak transcription	NH-A	brain
23	chr11:108144000-108152000	Weak transcription	HepG2	liver
24	chr11:108144000-108160000	Weak transcription	NHDF-Ad	bronchial
25	chr11:108144000-108168200	Weak transcription	Hela-S3	cervix
26	chr11:108144400-108165400	Weak transcription	Brain Substantia Nigra	brain
27	chr11:108144400-108200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:108144600-108153000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:108144600-108154000	Weak transcription	Fetal Kidney	kidney
30	chr11:108145000-108152200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:108145800-108174400	Weak transcription	A549	lung
32	chr11:108145800-108235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:108146000-108152400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:108146000-108153600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:108146000-108153600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:108147200-108210800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr11:108147400-108152400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr11:108147400-108161200	Strong transcription	Dnd41	blood
39	chr11:108147800-108151400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
40	chr11:108148000-108151400	Weak transcription	Fetal Lung	lung
41	chr11:108148000-108151600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:108148200-108155600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:108148200-108159000	Strong transcription	Primary B cells from cord blood	blood
44	chr11:108148200-108160600	Weak transcription	Fetal Brain Female	brain
45	chr11:108148200-108162800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:108148200-108225600	Weak transcription	Esophagus	oesophagus
47	chr11:108148400-108152000	Weak transcription	Brain Angular Gyrus	brain
48	chr11:108148400-108152200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:108148400-108152200	Weak transcription	Left Ventricle	heart
50	chr11:108148400-108153600	Weak transcription	Brain Cingulate Gyrus	brain

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