Variant report

Variant	rs1607476
Chromosome Location	chr11:108075161-108075162
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108072326..108074040-chr11:108074977..108077397,2	K562	blood:

Extended variants
information (count: 147 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs1003623	0.83[EUR][1000 genomes]
rs1003624	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs10789656	0.87[EUR][1000 genomes]
rs10789659	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes]
rs10890821	0.83[EUR][1000 genomes]
rs10890822	0.81[ASN][1000 genomes]
rs11212525	0.81[JPT][hapmap]
rs11212538	0.96[CEU][hapmap];0.91[CHB][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11212542	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11212543	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11212546	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11212551	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11212579	0.86[EUR][1000 genomes]
rs113995	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs1150203	0.83[EUR][1000 genomes]
rs11605442	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12272183	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575358	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12787445	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs172894	0.96[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap]
rs172896	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs172927	0.87[EUR][1000 genomes]
rs183459	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs183460	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1850730	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs186593	0.86[JPT][hapmap]
rs186595	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs189037	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1893812	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1893813	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1973723	0.87[EUR][1000 genomes]
rs2056267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2070661	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2083707	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][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]
rs227040	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs227041	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs227053	0.96[CEU][hapmap]
rs227054	0.83[AMR][1000 genomes]
rs227055	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap]
rs227058	0.96[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap]
rs227061	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs227062	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap]
rs227064	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes]
rs227066	0.86[AMR][1000 genomes]
rs227067	0.83[AMR][1000 genomes]
rs227068	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs227069	0.86[CHB][hapmap]
rs227070	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes]
rs227072	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs227073	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs227074	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs227075	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes]
rs227077	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs227087	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs227092	0.92[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs228588	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs228589	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs228590	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228591	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs228592	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs228594	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs228596	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs228597	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228598	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228599	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs228601	0.84[EUR][1000 genomes]
rs228606	0.91[CHB][hapmap]
rs228607	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs228608	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs374443	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes]
rs3781868	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3781869	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4027718	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs419716	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs425538	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes]
rs4585	0.92[CEU][hapmap];0.81[CHB][hapmap]
rs4623864	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4753833	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4754299	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4754301	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4754305	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4754306	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4987982	0.96[CEU][hapmap];0.83[CHB][hapmap];0.89[EUR][1000 genomes]
rs573890	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs582157	0.80[EUR][1000 genomes]
rs583725	0.83[EUR][1000 genomes]
rs592955	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs594153	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs595747	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes]
rs599164	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs599406	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs599558	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs600329	0.83[EUR][1000 genomes]
rs600691	0.88[EUR][1000 genomes]
rs600931	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs601111	0.83[EUR][1000 genomes]
rs606275	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs608086	0.82[EUR][1000 genomes]
rs609261	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs609557	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs609655	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap]
rs611646	0.87[CHB][hapmap]
rs618499	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs619972	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs620613	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs621947	0.86[EUR][1000 genomes]
rs623860	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs624366	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs624852	0.88[AMR][1000 genomes]
rs625120	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs627418	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs634268	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs637064	0.87[EUR][1000 genomes]
rs641312	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs641605	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs642496	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs645485	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs647681	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs650128	0.82[EUR][1000 genomes]
rs650173	0.82[EUR][1000 genomes]
rs652311	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs652541	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes]
rs654005	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs6589004	0.81[ASN][1000 genomes]
rs6589007	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6589008	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs660429	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs661467	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs662218	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap]
rs662578	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs664143	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes]
rs664677	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[EUR][1000 genomes]
rs672655	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes]
rs672964	0.86[EUR][1000 genomes]
rs673281	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs676729	0.82[EUR][1000 genomes]
rs679782	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs694376	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs694799	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7118967	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7395528	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7931681	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs7931930	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7932972	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7948117	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1607476	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	chr11:108053800-108075600	Weak transcription	Fetal Heart	heart
2	chr11:108060000-108077000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:108060000-108077000	Weak transcription	NHLF	lung
4	chr11:108060200-108076800	Weak transcription	Hela-S3	cervix
5	chr11:108062600-108090800	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:108063400-108077200	Weak transcription	NHDF-Ad	bronchial
7	chr11:108065400-108075400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
8	chr11:108067200-108076800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:108067400-108076400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:108067400-108077000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:108067600-108076800	Weak transcription	Adipose Nuclei	Adipose
12	chr11:108069200-108075400	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr11:108070000-108075200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:108070200-108075200	Weak transcription	Gastric	stomach
15	chr11:108070200-108076600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:108070400-108075400	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:108070600-108077000	Weak transcription	Aorta	Aorta
18	chr11:108070600-108077000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:108070600-108089800	Weak transcription	Psoas Muscle	Psoas
20	chr11:108071000-108077000	Weak transcription	Brain Angular Gyrus	brain
21	chr11:108071000-108077000	Weak transcription	Right Ventricle	heart
22	chr11:108071000-108091600	Weak transcription	Right Atrium	heart
23	chr11:108071200-108075400	Weak transcription	HSMMtube	muscle
24	chr11:108071200-108076800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:108071200-108077000	Weak transcription	Brain Substantia Nigra	brain
26	chr11:108071200-108077000	Weak transcription	A549	lung
27	chr11:108071400-108075400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:108071400-108077000	Weak transcription	Brain Anterior Caudate	brain
29	chr11:108071400-108077000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:108071400-108077000	Weak transcription	Osteobl	bone
31	chr11:108071400-108092400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:108071600-108077000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr11:108072200-108076800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:108072800-108081800	ZNF genes & repeats	GM12878-XiMat	blood
35	chr11:108073200-108075600	Strong transcription	NHEK	skin
36	chr11:108073400-108075400	Strong transcription	HSMM	muscle
37	chr11:108073400-108080200	ZNF genes & repeats	Brain Germinal Matrix	brain
38	chr11:108073600-108075200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:108073600-108079200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
40	chr11:108073800-108076200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:108073800-108079200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:108074000-108075600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:108074000-108076000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:108074000-108076400	ZNF genes & repeats	Fetal Brain Male	brain
45	chr11:108074000-108078200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
46	chr11:108074000-108079000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:108074000-108079200	ZNF genes & repeats	Fetal Brain Female	brain
48	chr11:108074000-108079400	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr11:108074000-108082600	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr11:108074000-108083000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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