Variant report

Variant	rs11231130
Chromosome Location	chr11:62299945-62299946
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62299154-62302954	U87	brain:	n/a	n/a
2	POLR2A	chr11:62279462-62304472	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:62297505-62300106	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr11:62299857-62300020	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:62280310-62302884	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr11:62299160-62302948	U87	brain:	n/a	n/a
7	POLR2A	chr11:62298402-62300440	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:62299351-62300048	U87	brain:	n/a	n/a
9	POLR2A	chr11:62299652-62300048	U87	brain:	n/a	n/a
10	POLR2A	chr11:62298816-62299996	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr11:62299945-62300044	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:62274977..62278202-chr11:62299637..62302170,3	MCF-7	breast:
2	chr11:62299386..62302040-chr11:62313228..62315279,2	K562	blood:

Variant related genes	Relation type
ENSG00000250659	TF binding region
ENSG00000124942	Chromatin interaction
ENSG00000257058	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11231110	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs11231120	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11231121	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes]
rs11231128	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822224	1.00[CEU][hapmap]
rs11827029	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12281588	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[EUR][1000 genomes]
rs12281651	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs12291805	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292433	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294680	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17157332	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17157338	1.00[JPT][hapmap]
rs17157363	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs17157365	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4124	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs41427449	1.00[GIH][hapmap]
rs56234858	0.81[EUR][1000 genomes]
rs61312994	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61625484	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108380	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123692	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124044	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7124130	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127582	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937521	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946258	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7951639	1.00[CEU][hapmap];1.00[JPT][hapmap];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	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv1801128	chr11:62276347-62329897	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	esv1831183	chr11:62276347-62329897	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	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
9	nsv347	chr11:62297068-62338927	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active 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	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62276600-62301200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:62277600-62303600	Strong transcription	Fetal Stomach	stomach
3	chr11:62281000-62304000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:62281000-62304800	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr11:62281200-62303200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:62281200-62303400	Strong transcription	Gastric	stomach
7	chr11:62281200-62303800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:62281200-62304000	Strong transcription	Fetal Muscle Leg	muscle
9	chr11:62281200-62306200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:62281400-62303200	Strong transcription	Lung	lung
11	chr11:62281400-62305600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:62281600-62303400	Strong transcription	Fetal Intestine Small	intestine
13	chr11:62281600-62303600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:62281600-62306000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:62281800-62303600	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr11:62281800-62303600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr11:62281800-62304200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr11:62281800-62304400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:62281800-62304400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:62281800-62304400	Strong transcription	Placenta	Placenta
21	chr11:62282000-62303400	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:62282000-62303600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr11:62282000-62303600	Strong transcription	Osteobl	bone
24	chr11:62282000-62303800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:62282000-62304200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:62282000-62304400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr11:62282000-62304800	Strong transcription	HSMM	muscle
28	chr11:62282000-62305400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:62282400-62302200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:62282400-62304400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:62282600-62305000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:62283000-62300200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:62283000-62302800	Strong transcription	NH-A	brain
34	chr11:62283000-62304400	Strong transcription	HMEC	breast
35	chr11:62283200-62301200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:62283200-62305000	Strong transcription	NHEK	skin
37	chr11:62283400-62301600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:62283400-62302800	Strong transcription	HUVEC	blood vessel
39	chr11:62283400-62306600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr11:62283600-62303200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:62284000-62300400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:62284200-62303200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:62284200-62303600	Strong transcription	A549	lung
44	chr11:62284200-62305800	Strong transcription	Aorta	Aorta
45	chr11:62284400-62303400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:62285400-62303600	Strong transcription	NHLF	lung
47	chr11:62285800-62305600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:62286000-62301800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:62286000-62303600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:62286000-62304200	Strong transcription	Liver	Liver

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