Variant report

Variant	rs641312
Chromosome Location	chr11:108148265-108148266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108143540..108146436-chr11:108147074..108149154,2	MCF-7	breast:

Extended variants
information (count: 137 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs1003623	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1003624	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10789659	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11212538	0.86[EUR][1000 genomes]
rs11212542	0.81[EUR][1000 genomes]
rs11212543	0.86[EUR][1000 genomes]
rs11212546	0.87[EUR][1000 genomes]
rs11212551	0.84[EUR][1000 genomes]
rs11212579	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1150203	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11605442	0.87[EUR][1000 genomes]
rs12272183	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12787445	0.82[EUR][1000 genomes]
rs1583598	0.80[AMR][1000 genomes]
rs1607476	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs172927	0.96[EUR][1000 genomes]
rs183459	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs183460	0.88[EUR][1000 genomes]
rs1850730	0.86[EUR][1000 genomes]
rs189037	0.88[EUR][1000 genomes]
rs1893812	0.83[EUR][1000 genomes]
rs1893813	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2056267	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2070661	0.89[EUR][1000 genomes]
rs2083707	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs227040	0.83[EUR][1000 genomes]
rs227041	0.83[EUR][1000 genomes]
rs227053	0.83[EUR][1000 genomes]
rs227054	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs227061	0.83[EUR][1000 genomes]
rs227062	0.83[EUR][1000 genomes]
rs227063	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs227064	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs227066	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs227067	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs227068	0.83[EUR][1000 genomes]
rs227070	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs227072	0.83[EUR][1000 genomes]
rs227073	0.83[EUR][1000 genomes]
rs227074	0.83[EUR][1000 genomes]
rs227075	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs227076	0.83[EUR][1000 genomes]
rs228588	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs228589	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs228590	0.90[EUR][1000 genomes]
rs228591	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs228592	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs228594	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs228596	0.92[EUR][1000 genomes]
rs228597	0.92[EUR][1000 genomes]
rs228598	0.92[EUR][1000 genomes]
rs228599	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs228601	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs228607	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs228608	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs374443	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3781868	0.87[EUR][1000 genomes]
rs3781869	0.87[EUR][1000 genomes]
rs4027718	0.86[EUR][1000 genomes]
rs419716	0.83[EUR][1000 genomes]
rs425061	0.81[EUR][1000 genomes]
rs425538	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4623864	0.86[EUR][1000 genomes]
rs4753833	0.88[EUR][1000 genomes]
rs4754299	0.82[EUR][1000 genomes]
rs4754301	0.86[EUR][1000 genomes]
rs4754305	0.87[EUR][1000 genomes]
rs4754324	0.83[AFR][1000 genomes]
rs4987982	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5023001	0.83[AFR][1000 genomes]
rs582157	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs583725	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs592955	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs594153	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs595747	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs599164	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs599406	0.95[EUR][1000 genomes]
rs599558	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs600329	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs600691	0.95[EUR][1000 genomes]
rs600931	0.95[EUR][1000 genomes]
rs601111	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs605394	0.81[EUR][1000 genomes]
rs606275	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs608086	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs609261	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs609429	0.85[EUR][1000 genomes]
rs609557	0.88[EUR][1000 genomes]
rs609655	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs618499	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs619972	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs620613	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs621947	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs623860	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs624366	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs624852	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs624888	0.81[EUR][1000 genomes]
rs625120	0.90[EUR][1000 genomes]
rs627418	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs634268	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs637064	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs641605	0.90[EUR][1000 genomes]
rs642496	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs645485	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs647681	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs650128	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs650173	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs651030	0.80[ASN][1000 genomes]
rs652541	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs654005	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6589007	0.86[EUR][1000 genomes]
rs6589008	0.81[EUR][1000 genomes]
rs660429	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs661467	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs662218	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs662578	0.85[EUR][1000 genomes]
rs664143	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs664677	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs664982	0.83[EUR][1000 genomes]
rs672655	0.96[EUR][1000 genomes]
rs672964	0.95[EUR][1000 genomes]
rs673281	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs676729	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs679782	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs694376	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs694799	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7118967	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7395528	0.87[EUR][1000 genomes]
rs7948117	0.82[EUR][1000 genomes]
rs9667658	0.82[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
rs641312	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 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	chr11:108096000-108148600	Weak transcription	Fetal Heart	heart
3	chr11:108096400-108156400	Weak transcription	NHLF	lung
4	chr11:108108400-108184800	Weak transcription	NHEK	skin
5	chr11:108126000-108153600	Weak transcription	HUVEC	blood vessel
6	chr11:108126200-108157600	Weak transcription	HMEC	breast
7	chr11:108126800-108149200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:108129000-108155400	Weak transcription	HSMMtube	muscle
9	chr11:108131800-108209600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:108137400-108148400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:108137600-108148400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:108137600-108150600	Strong transcription	Fetal Thymus	thymus
13	chr11:108137800-108149200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:108137800-108150000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:108137800-108150800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:108137800-108159400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:108137800-108160400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr11:108137800-108212000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:108138400-108209400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:108139000-108149400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:108139000-108150600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:108139200-108163400	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr11:108139200-108208200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:108140200-108149400	Strong transcription	Placenta	Placenta
25	chr11:108140400-108148600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:108140800-108149200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:108141200-108181800	Weak transcription	Small Intestine	intestine
28	chr11:108141800-108163600	Strong transcription	Adipose Nuclei	Adipose
29	chr11:108142000-108148600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:108142000-108149800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr11:108142200-108149600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:108142600-108155400	Weak transcription	Brain Germinal Matrix	brain
33	chr11:108143000-108175800	Weak transcription	Right Ventricle	heart
34	chr11:108143000-108186600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:108143800-108149400	Strong transcription	Liver	Liver
36	chr11:108143800-108154200	Weak transcription	K562	blood
37	chr11:108143800-108160400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:108143800-108175400	Weak transcription	Fetal Brain Male	brain
39	chr11:108144000-108149400	Weak transcription	HSMM	muscle
40	chr11:108144000-108151600	Weak transcription	NH-A	brain
41	chr11:108144000-108152000	Weak transcription	HepG2	liver
42	chr11:108144000-108160000	Weak transcription	NHDF-Ad	bronchial
43	chr11:108144000-108168200	Weak transcription	Hela-S3	cervix
44	chr11:108144400-108165400	Weak transcription	Brain Substantia Nigra	brain
45	chr11:108144400-108200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:108144600-108153000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr11:108144600-108154000	Weak transcription	Fetal Kidney	kidney
48	chr11:108145000-108152200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr11:108145400-108149400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:108145800-108174400	Weak transcription	A549	lung

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