Variant report

Variant	rs7943063
Chromosome Location	chr11:108336907-108336908
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr11:108336872-108336930	K562	blood:	n/a	n/a
2	POLR2A	chr11:108336784-108336958	HepG2	liver:	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
ENSG00000149311	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000166323	Chromatin interaction
ENSG00000178202	Chromatin interaction
ENSG00000149308	Chromatin interaction
ENSG00000110723	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10431060	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10431061	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10749917	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10749918	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10789659	0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10789665	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10890834	0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap]
rs10890848	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11212610	0.91[ASN][1000 genomes]
rs11212617	0.91[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.85[MKK][hapmap]
rs11212619	0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11212635	0.84[ASN][1000 genomes]
rs11212636	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11212637	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11212638	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11212666	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11212676	0.91[CEU][hapmap];0.86[GIH][hapmap];0.83[MEX][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs113995	0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12223381	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12226046	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs12419828	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12792979	0.84[ASN][1000 genomes]
rs12796446	0.82[ASN][1000 genomes]
rs1583598	0.91[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs170548	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs172894	0.86[CHB][hapmap]
rs172895	0.85[ASN][1000 genomes]
rs172896	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs179109	0.84[ASN][1000 genomes]
rs179110	0.91[JPT][hapmap]
rs186592	0.85[ASN][1000 genomes]
rs186593	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs186594	0.84[ASN][1000 genomes]
rs186595	0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.83[MKK][hapmap];0.83[ASN][1000 genomes]
rs2118308	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs227040	0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.80[MKK][hapmap]
rs227041	0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.83[MKK][hapmap]
rs227053	0.86[ASN][1000 genomes]
rs227054	0.80[ASN][1000 genomes]
rs227055	0.86[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs227058	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs227060	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs227061	0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.85[MKK][hapmap]
rs227062	0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.80[MKK][hapmap]
rs227064	0.86[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs227068	0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.82[MKK][hapmap]
rs227069	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.90[ASN][1000 genomes]
rs227070	0.86[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs227072	0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap]
rs227073	0.86[ASW][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.81[LWK][hapmap];0.90[MKK][hapmap];0.95[YRI][hapmap]
rs227074	0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.80[MKK][hapmap]
rs227075	0.86[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs227077	0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.83[MKK][hapmap];0.84[ASN][1000 genomes]
rs227085	0.83[ASN][1000 genomes]
rs227086	0.81[ASN][1000 genomes]
rs227087	0.91[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.80[MKK][hapmap];0.81[ASN][1000 genomes]
rs227088	0.81[ASN][1000 genomes]
rs227091	0.80[ASN][1000 genomes]
rs227092	0.86[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs227093	0.88[ASN][1000 genomes]
rs227094	0.81[ASN][1000 genomes]
rs2356801	0.86[ASW][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.80[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs373759	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs374443	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs3765632	0.80[CHD][hapmap]
rs3824987	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs419716	0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.85[MKK][hapmap]
rs425538	0.86[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs4585	0.82[CHB][hapmap];0.89[CHD][hapmap];0.80[JPT][hapmap];0.83[MKK][hapmap];0.81[ASN][1000 genomes]
rs4753842	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4754318	0.84[ASN][1000 genomes]
rs4754322	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4754324	0.84[ASN][1000 genomes]
rs5023001	0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs573890	0.91[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.83[MKK][hapmap];0.83[ASN][1000 genomes]
rs595747	0.82[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs597788	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs599558	0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap]
rs60639858	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60683001	0.84[ASN][1000 genomes]
rs609655	0.86[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs611646	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs61915104	0.82[ASN][1000 genomes]
rs619972	0.86[ASW][hapmap];0.89[CHD][hapmap];0.81[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap]
rs620613	0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap]
rs652311	0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.83[MKK][hapmap];0.81[ASN][1000 genomes]
rs652541	0.86[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs6589018	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6589019	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs662218	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs662578	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs664143	0.86[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs673281	0.86[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs7111091	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7112136	0.84[ASN][1000 genomes]
rs7120845	0.84[ASN][1000 genomes]
rs751343	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7931930	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.84[MKK][hapmap];0.91[ASN][1000 genomes]
rs7934719	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7942014	0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7943203	1.00[CEU][hapmap];0.82[CHD][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7943607	0.84[ASN][1000 genomes]
rs893279	0.91[CEU][hapmap];0.91[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs9667658	0.86[CHB][hapmap];0.91[JPT][hapmap]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7943063	AVIL	trans	parietal	SCAN
rs7943063	NPAT	cis	cerebellum	SCAN
rs7943063	ACAT1	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108334400-108337000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:108335600-108337000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:108336000-108337200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:108336200-108337000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr11:108336200-108337000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:108336200-108337200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:108336200-108337200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr11:108336200-108337200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr11:108336200-108337200	Enhancers	K562	blood
10	chr11:108336600-108337000	Enhancers	Hela-S3	cervix
11	chr11:108336800-108337000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:108336800-108337000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr11:108336800-108337200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr11:108336800-108337200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:108336800-108337200	Enhancers	Adipose Nuclei	Adipose
16	chr11:108336800-108337200	Enhancers	Fetal Muscle Leg	muscle
17	chr11:108336800-108337200	Enhancers	GM12878-XiMat	blood
18	chr11:108336800-108337200	Enhancers	NHEK	skin
19	chr11:108336800-108337400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:108336800-108337400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr11:108336800-108337400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:108336800-108337400	Enhancers	Stomach Mucosa	stomach
23	chr11:108336800-108337600	Flanking Active TSS	Dnd41	blood
24	chr11:108336800-108337600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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