Variant report

Variant	rs11775638
Chromosome Location	chr8:125685198-125685199
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125681064..125685199-chr8:125693703..125697375,3	MCF-7	breast:
2	chr8:125684155..125685745-chr8:125693552..125695356,2	MCF-7	breast:
3	chr8:125680861..125685703-chr8:125685975..125688840,5	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61149287	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125673000-125699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125676200-125699200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:125676400-125685200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:125676600-125685200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:125677000-125685600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:125677200-125685600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:125678400-125688800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:125678800-125686000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:125679600-125685400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:125680000-125685800	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:125680800-125686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:125680800-125686400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr8:125680800-125686600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:125681000-125685600	Weak transcription	NHEK	skin
15	chr8:125681200-125686000	Weak transcription	Esophagus	oesophagus
16	chr8:125681200-125687000	Enhancers	Primary B cells from cord blood	blood
17	chr8:125681200-125687800	Enhancers	Fetal Heart	heart
18	chr8:125681200-125701000	Weak transcription	HMEC	breast
19	chr8:125681400-125685200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:125681800-125687400	Enhancers	Psoas Muscle	Psoas
21	chr8:125682000-125686200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:125682200-125685600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:125682400-125685600	Weak transcription	Stomach Mucosa	stomach
24	chr8:125682400-125686400	Enhancers	NHDF-Ad	bronchial
25	chr8:125682600-125685600	Weak transcription	Fetal Intestine Large	intestine
26	chr8:125682800-125685200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:125682800-125685600	Weak transcription	Ovary	ovary
28	chr8:125683200-125685400	Weak transcription	Fetal Intestine Small	intestine
29	chr8:125683400-125685200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:125683600-125685400	Weak transcription	Fetal Kidney	kidney
31	chr8:125683800-125685600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:125683800-125685600	Weak transcription	Pancreas	Pancrea
33	chr8:125683800-125686000	Weak transcription	Lung	lung
34	chr8:125684000-125685600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:125684000-125685600	Enhancers	Brain Hippocampus Middle	brain
36	chr8:125684200-125685600	Enhancers	K562	blood
37	chr8:125684200-125687600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:125684400-125685600	Weak transcription	HepG2	liver
39	chr8:125684400-125686800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:125684600-125685200	Enhancers	Brain Cingulate Gyrus	brain
41	chr8:125684600-125687600	Enhancers	Fetal Thymus	thymus
42	chr8:125684600-125687800	Enhancers	Spleen	Spleen
43	chr8:125684800-125685200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr8:125684800-125685200	Enhancers	Stomach Smooth Muscle	stomach
45	chr8:125684800-125685600	Enhancers	Brain Substantia Nigra	brain
46	chr8:125684800-125686200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr8:125684800-125687000	Enhancers	Fetal Brain Male	brain
48	chr8:125684800-125687000	Enhancers	Fetal Muscle Leg	muscle
49	chr8:125685000-125685400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:125685000-125685600	Enhancers	Brain Anterior Caudate	brain

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