Variant report

Variant	rs11993050
Chromosome Location	chr8:120986464-120986465
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120978380..120980894-chr8:120986076..120988850,2	MCF-7	breast:
2	chr8:120985045..120986649-chr8:120987660..120991345,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11985028	0.81[ASN][1000 genomes]
rs17820965	0.81[ASN][1000 genomes]
rs55666486	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120968800-120987800	Weak transcription	Placenta	Placenta
2	chr8:120968800-120988800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:120977800-120994600	Weak transcription	Fetal Lung	lung
4	chr8:120978000-120994800	Weak transcription	Esophagus	oesophagus
5	chr8:120978000-120994800	Weak transcription	Right Ventricle	heart
6	chr8:120978000-121013600	Weak transcription	Gastric	stomach
7	chr8:120978400-120993200	Weak transcription	Primary T cells from cord blood	blood
8	chr8:120978400-120993200	Weak transcription	Brain Anterior Caudate	brain
9	chr8:120979000-120990600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:120979200-120987600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:120979400-120994800	Weak transcription	Left Ventricle	heart
12	chr8:120979600-120988800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:120981400-120986600	Weak transcription	Osteobl	bone
14	chr8:120981600-120992600	Enhancers	Fetal Intestine Large	intestine
15	chr8:120982600-120987200	Enhancers	Fetal Intestine Small	intestine
16	chr8:120983200-120989800	Weak transcription	Small Intestine	intestine
17	chr8:120983400-120994800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:120983600-120987800	Enhancers	Colon Smooth Muscle	Colon
19	chr8:120984200-120988400	Weak transcription	Liver	Liver
20	chr8:120984200-120990200	Weak transcription	Colonic Mucosa	Colon
21	chr8:120984200-120990400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:120984400-120988800	Weak transcription	Ovary	ovary
23	chr8:120984600-120987800	Weak transcription	Fetal Kidney	kidney
24	chr8:120984600-120988400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:120984600-120990400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:120984600-120990600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:120984800-120988800	Weak transcription	Pancreas	Pancrea
28	chr8:120984800-120988800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:120985400-120986600	Enhancers	Primary hematopoietic stem cells	blood
30	chr8:120985400-120986600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr8:120985400-120986800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:120985400-120987200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr8:120985400-120988600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:120985600-120986800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:120985600-120986800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr8:120985600-120987000	Enhancers	Brain Germinal Matrix	brain
37	chr8:120985600-120987200	Enhancers	Brain Angular Gyrus	brain
38	chr8:120985600-120987200	Enhancers	Stomach Smooth Muscle	stomach
39	chr8:120985600-120996800	Enhancers	Stomach Mucosa	stomach
40	chr8:120985800-120987000	Enhancers	Adipose Nuclei	Adipose
41	chr8:120985800-120987600	Weak transcription	Psoas Muscle	Psoas
42	chr8:120986000-120986800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr8:120986000-120987600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:120986000-120994800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr8:120986200-120986600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr8:120986200-120990600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:120986200-120994400	Weak transcription	Right Atrium	heart
48	chr8:120986400-120987800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:120986400-120988600	Weak transcription	Brain Substantia Nigra	brain
50	chr8:120986400-120988600	Weak transcription	Fetal Muscle Leg	muscle

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