Variant report

Variant	rs3741151
Chromosome Location	chr11:73020846-73020847
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	chr11:73018198-73020897	Hela-S3	cervix:	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	MAX	chr11:73017906-73020898	ECC-1	luminal epithelium:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225 chr11:73018176-73018186
5	CHD1	chr11:73018784-73021132	IMR90	lung:	n/a	n/a
6	MAX	chr11:73019627-73021045	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:73018616-73020865	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:73020034-73020850	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:73018524-73020942	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:73020144-73020850	HCT-116	colon:	n/a	n/a
11	CTBP2	chr11:73019692-73021072	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr11:73017966-73022341	IMR90	lung:	n/a	chr11:73019505-73019520 chr11:73018580-73018589
13	MAZ	chr11:73017713-73021631	IMR90	lung:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225 chr11:73018176-73018186
14	HEY1	chr11:73019977-73020931	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:73018047-73021418	ECC-1	luminal epithelium:	n/a	n/a
16	TCF12	chr11:73017839-73021172	ECC-1	luminal epithelium:	n/a	chr11:73018579-73018589
17	POLR2A	chr11:73017908-73020944	HUVEC	blood vessel:	n/a	n/a
18	SMARCB1	chr11:73018803-73020979	Hela-S3	cervix:	n/a	n/a
19	E2F6	chr11:73018829-73021214	H1-hESC	embryonic stem cell:	n/a	chr11:73019282-73019291 chr11:73019439-73019449 chr11:73019638-73019648 chr11:73019275-73019284
20	MAX	chr11:73018050-73020935	HepG2	liver:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225 chr11:73018176-73018186
21	POLR2A	chr11:73018202-73021205	IMR90	lung:	n/a	n/a
22	POLR2A	chr11:73018176-73021324	HepG2	liver:	n/a	n/a
23	MAX	chr11:73018193-73021021	HepG2	liver:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225
24	MAX	chr11:73017947-73021002	ECC-1	luminal epithelium:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225 chr11:73018176-73018186
25	RCOR1	chr11:73017408-73021448	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73003630..73006401-chr11:73018287..73021432,3	MCF-7	breast:
2	chr11:72979299..72983458-chr11:73018365..73020880,3	MCF-7	breast:
3	chr11:73016708..73020857-chr11:73085853..73088628,6	MCF-7	breast:
4	chr11:73015582..73020883-chr11:73085250..73090220,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257038	TF binding region
ARHGEF17	TF binding region
ENSG00000171631	Chromatin interaction
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10898917	0.90[EUR][1000 genomes]
rs12099129	0.84[EUR][1000 genomes]
rs1892855	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027760	0.87[EUR][1000 genomes]
rs2027761	0.85[EUR][1000 genomes]
rs2027763	0.82[EUR][1000 genomes]
rs3741149	1.00[EUR][1000 genomes]
rs3741152	0.82[EUR][1000 genomes]
rs57893472	0.99[EUR][1000 genomes]
rs60078907	1.00[ASN][1000 genomes]
rs60924672	0.81[EUR][1000 genomes]
rs61037777	0.94[EUR][1000 genomes]
rs61705659	0.83[EUR][1000 genomes]
rs7102787	0.85[EUR][1000 genomes]
rs7105681	0.84[EUR][1000 genomes]
rs7105705	0.85[EUR][1000 genomes]
rs7115806	0.83[EUR][1000 genomes]
rs7122825	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125949	0.82[EUR][1000 genomes]
rs7125978	0.87[EUR][1000 genomes]
rs7129663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542929	0.83[EUR][1000 genomes]
rs7930454	1.00[ASN][1000 genomes]
rs7930880	0.85[EUR][1000 genomes]
rs7941454	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947515	0.81[EUR][1000 genomes]
rs7949364	0.94[EUR][1000 genomes]

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:108 , 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	chr11:73018000-73021000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:73018200-73021000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:73018200-73021000	Active TSS	Left Ventricle	heart
5	chr11:73018200-73022200	Active TSS	Aorta	Aorta
6	chr11:73018400-73021000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:73018400-73021000	Active TSS	Pancreas	Pancrea
8	chr11:73018400-73021200	Active TSS	HSMM	muscle
9	chr11:73018400-73021200	Active TSS	NHLF	lung
10	chr11:73018400-73021400	Active TSS	Esophagus	oesophagus
11	chr11:73018400-73021400	Active TSS	Fetal Kidney	kidney
12	chr11:73018400-73021600	Active TSS	Brain Angular Gyrus	brain
13	chr11:73018400-73021600	Active TSS	NHDF-Ad	bronchial
14	chr11:73018400-73021800	Active TSS	Brain Cingulate Gyrus	brain
15	chr11:73018400-73021800	Active TSS	Brain Substantia Nigra	brain
16	chr11:73018400-73022000	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr11:73018400-73022600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr11:73018400-73022600	Active TSS	Colon Smooth Muscle	Colon
19	chr11:73018400-73022800	Active TSS	HSMMtube	muscle
20	chr11:73018600-73023200	Active TSS	Brain Anterior Caudate	brain
21	chr11:73018800-73021000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr11:73018800-73021000	Flanking Active TSS	Liver	Liver
23	chr11:73018800-73021000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr11:73018800-73021400	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr11:73018800-73026200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr11:73019000-73021000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:73019200-73021200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
28	chr11:73019200-73021400	Bivalent Enhancer	Fetal Brain Male	brain
29	chr11:73019400-73021400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:73019400-73022000	Flanking Active TSS	NH-A	brain
31	chr11:73019600-73021000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr11:73019600-73021000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr11:73019600-73021200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:73019800-73021000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr11:73019800-73024600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:73020000-73021000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr11:73020000-73021400	Active TSS	Psoas Muscle	Psoas
38	chr11:73020000-73023400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:73020200-73021000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr11:73020200-73021000	Bivalent/Poised TSS	Thymus	Thymus
41	chr11:73020200-73021200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:73020400-73021000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:73020400-73021000	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr11:73020400-73021200	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr11:73020400-73021400	Active TSS	Brain Hippocampus Middle	brain
46	chr11:73020400-73021600	Flanking Active TSS	Placenta	Placenta
47	chr11:73020400-73022600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr11:73020600-73021000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
49	chr11:73020600-73021000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:73020600-73021000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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