Variant report

Variant	rs575642502
Chromosome Location	chr11:86512661-86512662
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45823993..45827958-chr11:86511064..86514676,4	MCF-7	breast:
2	chr11:86510417..86513146-chr20:45982984..45985420,2	MCF-7	breast:
3	chr11:86419479..86421518-chr11:86511993..86513622,2	MCF-7	breast:
4	chr11:86381425..86386014-chr11:86508895..86515059,6	MCF-7	breast:
5	chr11:86411235..86420303-chr11:86507153..86518645,29	MCF-7	breast:
6	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
7	chr11:86432743..86434805-chr11:86511813..86513360,2	MCF-7	breast:
8	chr11:86440758..86442314-chr11:86511622..86514014,2	MCF-7	breast:
9	chr11:86414005..86419352-chr11:86508550..86514510,10	MCF-7	breast:
10	chr11:45823710..45826999-chr11:86510358..86513611,4	MCF-7	breast:
11	chr11:86208558..86211731-chr11:86511256..86513544,4	MCF-7	breast:
12	chr11:86192819..86194557-chr11:86511589..86513342,2	MCF-7	breast:
13	chr11:86166230..86170690-chr11:86512399..86515625,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101040	Chromatin interaction
ENSG00000181830	Chromatin interaction
ENSG00000254731	Chromatin interaction
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv523704	chr11:86508928-86528437	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3370524	chr11:86510129-86512677	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv2760199	chr11:86512312-86531118	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86510800-86513600	Active TSS	Fetal Brain Female	brain
2	chr11:86511000-86512800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:86511000-86513200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:86511000-86513400	Active TSS	Aorta	Aorta
5	chr11:86511000-86513400	Active TSS	Sigmoid Colon	Sigmoid Colon
6	chr11:86511000-86513800	Active TSS	Ovary	ovary
7	chr11:86511000-86514000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:86511000-86514000	Active TSS	Fetal Kidney	kidney
9	chr11:86511000-86514800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:86511200-86512800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:86511200-86512800	Active TSS	Left Ventricle	heart
12	chr11:86511200-86512800	Active TSS	NHDF-Ad	bronchial
13	chr11:86511200-86512800	Active TSS	NHEK	skin
14	chr11:86511200-86513000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:86511200-86513200	Active TSS	HSMM	muscle
16	chr11:86511200-86513400	Active TSS	A549	lung
17	chr11:86511200-86513600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:86511200-86513800	Active TSS	Colon Smooth Muscle	Colon
19	chr11:86511200-86513800	Active TSS	Rectal Smooth Muscle	rectum
20	chr11:86511200-86513800	Active TSS	HSMMtube	muscle
21	chr11:86511200-86514000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:86511200-86514000	Active TSS	Fetal Stomach	stomach
23	chr11:86511200-86514000	Active TSS	Right Atrium	heart
24	chr11:86511200-86514000	Active TSS	Hela-S3	cervix
25	chr11:86511200-86514400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:86511400-86513000	Active TSS	Placenta Amnion	Placenta Amnion
27	chr11:86511400-86513000	Active TSS	Right Ventricle	heart
28	chr11:86511400-86513200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:86511400-86513600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:86511400-86513600	Active TSS	Lung	lung
31	chr11:86511400-86514600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:86511800-86512800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:86511800-86513000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:86511800-86513000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr11:86511800-86513200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr11:86511800-86514000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:86512000-86512800	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr11:86512000-86527000	Weak transcription	Spleen	Spleen
39	chr11:86512200-86512800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
40	chr11:86512200-86512800	Active TSS	Fetal Muscle Trunk	muscle
41	chr11:86512200-86512800	Bivalent Enhancer	Fetal Thymus	thymus
42	chr11:86512200-86513000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
43	chr11:86512200-86513000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
44	chr11:86512200-86513000	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr11:86512200-86513200	Active TSS	Colonic Mucosa	Colon
46	chr11:86512200-86513600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:86512200-86513600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr11:86512200-86515000	Enhancers	Fetal Brain Male	brain
49	chr11:86512400-86512800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr11:86512400-86512800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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