Variant report

Variant	rs3741150
Chromosome Location	chr11:73021032-73021033
allele	C/T
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	RFX5	chr11:73021002-73021058	HepG2	liver:	n/a	n/a
2	HCFC1	chr11:73017853-73021101	Hela-S3	cervix:	n/a	n/a
3	SMC3	chr11:73016942-73021131	SK-N-SH	brain:	n/a	chr11:73018484-73018498 chr11:73017587-73017594 chr11:73019010-73019017
4	CHD1	chr11:73018784-73021132	IMR90	lung:	n/a	n/a
5	MAX	chr11:73019627-73021045	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr11:73019692-73021072	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr11:73017966-73022341	IMR90	lung:	n/a	chr11:73019505-73019520 chr11:73018580-73018589
8	MAZ	chr11:73017713-73021631	IMR90	lung:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225 chr11:73018176-73018186
9	POLR2A	chr11:73018047-73021418	ECC-1	luminal epithelium:	n/a	n/a
10	TCF12	chr11:73017839-73021172	ECC-1	luminal epithelium:	n/a	chr11:73018579-73018589
11	E2F6	chr11:73018829-73021214	H1-hESC	embryonic stem cell:	n/a	chr11:73019282-73019291 chr11:73019439-73019449 chr11:73019638-73019648 chr11:73019275-73019284
12	POLR2A	chr11:73018202-73021205	IMR90	lung:	n/a	n/a
13	POLR2A	chr11:73018176-73021324	HepG2	liver:	n/a	n/a
14	RCOR1	chr11:73017408-73021448	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73003630..73006401-chr11:73018287..73021432,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257038	TF binding region
ARHGEF17	TF binding region
ENSG00000171631	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11235668	1.00[CEU][hapmap]
rs11235671	1.00[CEU][hapmap]
rs11235726	1.00[CEU][hapmap]
rs12418521	1.00[LWK][hapmap]
rs2298808	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3440091	chr11:73018929-73021477	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73017800-73021200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:73018200-73022200	Active TSS	Aorta	Aorta
3	chr11:73018400-73021200	Active TSS	HSMM	muscle
4	chr11:73018400-73021200	Active TSS	NHLF	lung
5	chr11:73018400-73021400	Active TSS	Esophagus	oesophagus
6	chr11:73018400-73021400	Active TSS	Fetal Kidney	kidney
7	chr11:73018400-73021600	Active TSS	Brain Angular Gyrus	brain
8	chr11:73018400-73021600	Active TSS	NHDF-Ad	bronchial
9	chr11:73018400-73021800	Active TSS	Brain Cingulate Gyrus	brain
10	chr11:73018400-73021800	Active TSS	Brain Substantia Nigra	brain
11	chr11:73018400-73022000	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr11:73018400-73022600	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr11:73018400-73022600	Active TSS	Colon Smooth Muscle	Colon
14	chr11:73018400-73022800	Active TSS	HSMMtube	muscle
15	chr11:73018600-73023200	Active TSS	Brain Anterior Caudate	brain
16	chr11:73018800-73021400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr11:73018800-73026200	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr11:73019200-73021200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
19	chr11:73019200-73021400	Bivalent Enhancer	Fetal Brain Male	brain
20	chr11:73019400-73021400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:73019400-73022000	Flanking Active TSS	NH-A	brain
22	chr11:73019600-73021200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:73019800-73024600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:73020000-73021400	Active TSS	Psoas Muscle	Psoas
25	chr11:73020000-73023400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:73020200-73021200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:73020400-73021200	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr11:73020400-73021400	Active TSS	Brain Hippocampus Middle	brain
29	chr11:73020400-73021600	Flanking Active TSS	Placenta	Placenta
30	chr11:73020400-73022600	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr11:73020600-73021200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:73020600-73021200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:73020600-73021200	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr11:73020600-73021200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
35	chr11:73020600-73021200	Flanking Active TSS	A549	lung
36	chr11:73020600-73021200	Flanking Active TSS	HMEC	breast
37	chr11:73020600-73021200	Flanking Active TSS	HUVEC	blood vessel
38	chr11:73020600-73021400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr11:73020600-73021400	Flanking Active TSS	Hela-S3	cervix
40	chr11:73020600-73021400	Flanking Active TSS	Osteobl	bone
41	chr11:73020600-73021600	Flanking Active TSS	Fetal Lung	lung
42	chr11:73020600-73021800	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr11:73020600-73022000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:73020600-73022800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:73020600-73024800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
46	chr11:73020600-73025000	Weak transcription	Primary B cells from cord blood	blood
47	chr11:73020600-73025000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
48	chr11:73020600-73025200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr11:73020600-73026400	Flanking Active TSS	HepG2	liver
50	chr11:73020600-73026600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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