Variant report

Variant	rs7943607
Chromosome Location	chr11:108337137-108337138
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:108337099-108337320	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:108337006-108338985	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:108336990-108339162	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:108337047-108337372	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr11:108336984-108338666	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:108335947..108339609-chr11:108366598..108369824,4	MCF-7	breast:
2	chr11:108336534..108338952-chr17:57918620..57920777,2	MCF-7	breast:
3	chr11:108335991..108337619-chr11:108463105..108465715,2	K562	blood:
4	chr11:108092141..108094808-chr11:108335621..108340680,5	K562	blood:
5	chr11:108249366..108252205-chr11:108334499..108338160,3	K562	blood:
6	chr11:108335836..108337491-chr11:108462941..108465715,2	K562	blood:
7	chr11:108332946..108340923-chr11:108359972..108371658,26	K562	blood:
8	chr11:108332908..108334594-chr11:108336569..108338180,2	K562	blood:
9	chr11:108092963..108094559-chr11:108335531..108338245,2	K562	blood:
10	chr11:108333954..108342521-chr11:108361561..108373383,35	K562	blood:
11	chr11:108335455..108337669-chr11:108500800..108503304,2	K562	blood:
12	chr11:108331131..108333736-chr11:108336574..108338157,2	MCF-7	breast:

No data

Variant related genes	Relation type
C11orf65	TF binding region
ENSG00000149308	Chromatin interaction
ENSG00000166323	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000110723	Chromatin interaction
ENSG00000149311	Chromatin interaction
ENSG00000178202	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10431060	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10431061	0.85[ASN][1000 genomes]
rs10789659	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10890849	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11212610	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11212619	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11212635	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11212636	0.83[ASN][1000 genomes]
rs11212637	0.83[ASN][1000 genomes]
rs11212638	0.83[ASN][1000 genomes]
rs11212640	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11212659	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11212661	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs113995	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12792979	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12796446	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12801988	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1583598	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs170547	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs172895	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs179109	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs186592	0.84[ASN][1000 genomes]
rs186594	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs186595	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2118308	0.88[ASN][1000 genomes]
rs2118309	0.83[EUR][1000 genomes]
rs227040	0.83[ASN][1000 genomes]
rs227041	0.83[ASN][1000 genomes]
rs227054	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs227061	0.83[ASN][1000 genomes]
rs227062	0.83[ASN][1000 genomes]
rs227063	0.82[ASN][1000 genomes]
rs227064	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs227066	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs227067	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs227068	0.83[ASN][1000 genomes]
rs227070	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs227072	0.83[ASN][1000 genomes]
rs227073	0.83[ASN][1000 genomes]
rs227074	0.83[ASN][1000 genomes]
rs227075	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs227076	0.83[ASN][1000 genomes]
rs227077	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227085	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs227086	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227087	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs227088	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227091	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227092	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227093	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs227094	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs374443	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3765632	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3901851	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs419716	0.82[ASN][1000 genomes]
rs425061	0.83[ASN][1000 genomes]
rs425538	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4585	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4753842	0.83[ASN][1000 genomes]
rs4754318	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4754322	0.88[ASN][1000 genomes]
rs4754324	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5023001	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs573890	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs595747	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs605394	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60639858	0.88[ASN][1000 genomes]
rs60683001	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs609429	0.82[ASN][1000 genomes]
rs609655	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61913892	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61915104	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs652311	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs652541	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6589018	0.88[ASN][1000 genomes]
rs662218	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs662578	0.81[ASN][1000 genomes]
rs664143	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs664982	0.83[ASN][1000 genomes]
rs673281	0.81[AMR][1000 genomes]
rs7112136	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7120845	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7126588	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7931930	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7942014	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7943063	0.84[ASN][1000 genomes]
rs9667658	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][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	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
2	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
3	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7943607	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108336000-108337200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:108336200-108337200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:108336200-108337200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr11:108336200-108337200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:108336200-108337200	Enhancers	K562	blood
6	chr11:108336800-108337200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr11:108336800-108337200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:108336800-108337200	Enhancers	Adipose Nuclei	Adipose
9	chr11:108336800-108337200	Enhancers	Fetal Muscle Leg	muscle
10	chr11:108336800-108337200	Enhancers	GM12878-XiMat	blood
11	chr11:108336800-108337200	Enhancers	NHEK	skin
12	chr11:108336800-108337400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:108336800-108337400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr11:108336800-108337400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:108336800-108337400	Enhancers	Stomach Mucosa	stomach
16	chr11:108336800-108337600	Flanking Active TSS	Dnd41	blood
17	chr11:108336800-108337600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr11:108337000-108337200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:108337000-108337200	Enhancers	Primary B cells from cord blood	blood
20	chr11:108337000-108337200	Enhancers	Primary T cells from cord blood	blood
21	chr11:108337000-108337200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr11:108337000-108337200	Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr11:108337000-108337200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr11:108337000-108337200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:108337000-108337200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:108337000-108337200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr11:108337000-108337200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:108337000-108337200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:108337000-108337200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:108337000-108337200	Enhancers	Brain Anterior Caudate	brain
31	chr11:108337000-108337200	Enhancers	Brain Hippocampus Middle	brain
32	chr11:108337000-108337200	Enhancers	Fetal Heart	heart
33	chr11:108337000-108337200	Enhancers	Fetal Stomach	stomach
34	chr11:108337000-108337200	Enhancers	Fetal Thymus	thymus
35	chr11:108337000-108337200	Enhancers	Gastric	stomach
36	chr11:108337000-108337200	Enhancers	Pancreas	Pancrea
37	chr11:108337000-108337200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr11:108337000-108337200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:108337000-108337200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr11:108337000-108337200	Enhancers	Thymus	Thymus
41	chr11:108337000-108337400	Enhancers	Primary B cells from peripheral blood	blood
42	chr11:108337000-108337400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr11:108337000-108337400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr11:108337000-108337400	Enhancers	Placenta	Placenta
45	chr11:108337000-108337400	Enhancers	Left Ventricle	heart
46	chr11:108337000-108337400	Flanking Active TSS	Hela-S3	cervix
47	chr11:108337000-108337600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr11:108337000-108337600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:108337000-108337600	Enhancers	Lung	lung
50	chr11:108337000-108337800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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