Variant report

Variant	rs11231155
Chromosome Location	chr11:62365619-62365620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62364935-62365915	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:62365291-62366171	K562	blood:	n/a	n/a
3	POLR2A	chr11:62365530-62365701	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:62365375-62365903	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:62364432-62366053	K562	blood:	n/a	n/a
6	POLR2A	chr11:62364957-62366033	GM12892	blood:	n/a	n/a
7	POLR2A	chr11:62365391-62367066	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:62365212-62365791	K562	blood:	n/a	n/a
9	POLR2A	chr11:62365475-62365820	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:62365526-62365829	GM12891	blood:	n/a	n/a
11	POLR2A	chr11:62364975-62365833	K562	blood:	n/a	n/a
12	POLR2A	chr11:62365302-62365957	SK-N-MC	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:62365424..62367728-chr11:62413589..62415522,2	K562	blood:
2	chr11:62365249..62367009-chr11:62521402..62523143,2	K562	blood:
3	chr11:62340363..62343212-chr11:62365252..62369475,4	MCF-7	breast:
4	chr11:62362631..62371847-chr11:62427548..62442313,26	MCF-7	breast:
5	chr11:62361223..62372590-chr11:62430599..62435389,30	K562	blood:
6	chr11:62355264..62375429-chr11:62428418..62443271,77	MCF-7	breast:
7	chr11:62365338..62373022-chr11:62621930..62625872,13	K562	blood:
8	chr11:62364982..62366719-chr11:62418980..62421459,2	K562	blood:
9	chr11:62363464..62373052-chr11:62429645..62434985,23	K562	blood:
10	chr11:62365089..62370067-chr11:62436026..62441323,7	K562	blood:
11	chr11:62363761..62365656-chr11:62386783..62389949,3	MCF-7	breast:
12	chr11:62364986..62367408-chr11:62393044..62395358,2	MCF-7	breast:

No data

Variant related genes	Relation type
MTA2	TF binding region
ENSG00000185670	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000162194	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1061093	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11231138	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11231141	0.90[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11231144	0.90[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11231145	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11231150	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11231151	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11231152	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11231154	0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11231156	0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11231161	0.83[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11231176	1.00[JPT][hapmap]
rs11553576	1.00[CEU][hapmap];0.94[GIH][hapmap];0.85[LWK][hapmap];0.92[MEX][hapmap];0.88[TSI][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12049914	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12223627	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12225213	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12226821	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12808829	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17773169	0.96[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.92[MEX][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1801144	0.88[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2428548	0.92[CEU][hapmap];0.88[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2428549	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2428551	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2509961	0.92[CEU][hapmap];0.88[CHB][hapmap];0.89[GIH][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2509967	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2509982	0.92[CEU][hapmap];0.88[CHB][hapmap];0.82[AMR][1000 genomes]
rs2512562	0.92[CEU][hapmap];0.88[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2512563	0.96[CEU][hapmap];0.88[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2516633	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];1.00[ASN][1000 genomes]
rs2516634	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2849030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2849031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34065644	0.88[ASN][1000 genomes]
rs34894392	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35156678	0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap]
rs35587183	0.88[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs35880596	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3923805	0.81[ASN][1000 genomes]
rs58720921	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61296092	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67308910	0.85[ASN][1000 genomes]
rs7124057	0.81[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71490390	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71490392	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71490394	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72927213	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7928833	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7930896	0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7937146	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7942991	0.81[ASW][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs7943191	0.90[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
6	nsv825939	chr11:62326083-62410577	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
7	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
8	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
9	nsv514630	chr11:62364716-62365660	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	n/a

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs11231155	MTA2	cis	Esophagus Mucosa	GTEx
rs11231155	EEF1G	cis	multi-tissue	Pritchard
rs11231155	TUT1	cis	parietal	SCAN
rs11231155	EEF1G///LOC729998	N/A	lymphoblastoid	RTeQTL
rs11231155	C11orf48	cis	cerebellum	SCAN
rs11231155	SLC22A9	cis	parietal	SCAN
rs11231155	EML3	cis	Esophagus Mucosa	GTEx
rs11231155	SLC22A25	cis	parietal	SCAN
rs11231155	SCYL1	cis	parietal	SCAN
rs11231155	CFL1	cis	parietal	SCAN
rs11231155	EML3	cis	cerebellum	SCAN
rs11231155	ROM1	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62359800-62368200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:62360200-62366200	Strong transcription	Osteobl	bone
3	chr11:62360200-62366400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:62360200-62367200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:62360200-62367200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:62360400-62366000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:62360400-62366000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:62360400-62366200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:62360400-62366200	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr11:62360400-62366200	Strong transcription	NH-A	brain
11	chr11:62360400-62367400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:62360600-62366000	Strong transcription	Fetal Stomach	stomach
13	chr11:62360600-62366200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:62360600-62366200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:62360600-62366200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:62360600-62366200	Strong transcription	NHLF	lung
17	chr11:62360800-62366200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:62360800-62366200	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr11:62360800-62366200	Strong transcription	Colon Smooth Muscle	Colon
20	chr11:62360800-62366200	Strong transcription	HSMM	muscle
21	chr11:62360800-62366600	Strong transcription	Esophagus	oesophagus
22	chr11:62361000-62366200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:62361000-62366200	Strong transcription	Liver	Liver
24	chr11:62361000-62366200	Strong transcription	Fetal Intestine Small	intestine
25	chr11:62361000-62366200	Strong transcription	Left Ventricle	heart
26	chr11:62361000-62366400	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:62361000-62366600	Strong transcription	Fetal Intestine Large	intestine
28	chr11:62361000-62366800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:62361200-62365800	Strong transcription	Aorta	Aorta
30	chr11:62361200-62365800	Strong transcription	Ovary	ovary
31	chr11:62361200-62365800	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr11:62361200-62366000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:62361200-62366000	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr11:62361200-62366000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:62361200-62366000	Strong transcription	Fetal Lung	lung
36	chr11:62361200-62366000	Strong transcription	HepG2	liver
37	chr11:62361200-62366200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:62361200-62366200	Strong transcription	Rectal Smooth Muscle	rectum
39	chr11:62361200-62366200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:62361200-62366400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:62361200-62366400	Strong transcription	HSMMtube	muscle
42	chr11:62361200-62366600	Strong transcription	Colonic Mucosa	Colon
43	chr11:62361200-62366600	Strong transcription	Lung	lung
44	chr11:62361400-62365800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:62361400-62365800	Strong transcription	Pancreas	Pancrea
46	chr11:62361400-62365800	Strong transcription	HMEC	breast
47	chr11:62361400-62366000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:62361400-62366000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr11:62361400-62366000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:62361400-62366000	Strong transcription	Brain Germinal Matrix	brain

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