Variant report

Variant	rs543013
Chromosome Location	chr11:75044148-75044149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75043115..75045254-chr11:75048636..75051434,3	MCF-7	breast:
2	chr11:75043329..75045889-chr11:75052595..75054631,2	MCF-7	breast:
3	chr11:75043210..75047420-chr11:75061230..75064804,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs561923	0.81[EUR][1000 genomes]
rs562946	0.85[EUR][1000 genomes]
rs566567	0.81[EUR][1000 genomes]
rs665702	0.81[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	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
2	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
3	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
4	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75035200-75051200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:75035600-75044400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:75037800-75044200	Weak transcription	Esophagus	oesophagus
4	chr11:75037800-75045800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:75039400-75051000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr11:75039400-75060800	Enhancers	Placenta	Placenta
7	chr11:75039800-75044200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:75040000-75044800	Weak transcription	Right Atrium	heart
9	chr11:75040000-75050400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:75040200-75044200	Weak transcription	HSMMtube	muscle
11	chr11:75040200-75044800	Weak transcription	HMEC	breast
12	chr11:75040200-75046600	Enhancers	Stomach Mucosa	stomach
13	chr11:75040200-75047400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:75040200-75048000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:75040400-75048200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:75040600-75045400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:75040800-75044400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:75040800-75044800	Weak transcription	Left Ventricle	heart
19	chr11:75040800-75045400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:75040800-75048600	Weak transcription	GM12878-XiMat	blood
21	chr11:75041000-75047800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:75041200-75048600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:75041400-75044200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:75041400-75044200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr11:75041400-75044200	Weak transcription	Gastric	stomach
26	chr11:75041400-75045600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:75041600-75044400	Weak transcription	Hela-S3	cervix
28	chr11:75041600-75044600	Weak transcription	HUVEC	blood vessel
29	chr11:75041800-75044200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:75041800-75044200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:75041800-75044400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:75041800-75044400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:75041800-75044400	Weak transcription	Ovary	ovary
34	chr11:75041800-75044600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:75041800-75045600	Weak transcription	A549	lung
36	chr11:75041800-75047600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr11:75041800-75047800	Weak transcription	NHDF-Ad	bronchial
38	chr11:75041800-75048600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:75041800-75049600	Weak transcription	Dnd41	blood
40	chr11:75042000-75044200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:75042000-75044200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:75042000-75044200	Weak transcription	Brain Angular Gyrus	brain
43	chr11:75042000-75044200	Weak transcription	Brain Anterior Caudate	brain
44	chr11:75042000-75044200	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:75042000-75044200	Weak transcription	Brain Substantia Nigra	brain
46	chr11:75042000-75044200	Weak transcription	Colonic Mucosa	Colon
47	chr11:75042000-75044200	Weak transcription	Fetal Muscle Leg	muscle
48	chr11:75042000-75044200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr11:75042000-75044200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr11:75042000-75044400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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