Variant report

Variant	rs12477737
Chromosome Location	chr2:86930966-86930967
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	chr2:86855526..86858566-chr2:86929665..86933195,3	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10165914	0.86[ASN][1000 genomes]
rs10178968	0.86[ASN][1000 genomes]
rs10184617	0.83[ASN][1000 genomes]
rs10197478	0.86[ASN][1000 genomes]
rs10206802	0.86[ASN][1000 genomes]
rs11127049	0.84[ASN][1000 genomes]
rs12988718	0.91[ASN][1000 genomes]
rs13407663	0.86[ASN][1000 genomes]
rs1370452	0.86[ASN][1000 genomes]
rs2138397	0.85[ASN][1000 genomes]
rs34933869	0.83[EUR][1000 genomes]
rs35129240	0.85[EUR][1000 genomes]
rs35815787	0.85[EUR][1000 genomes]
rs36100635	0.91[ASN][1000 genomes]
rs4832048	0.81[ASN][1000 genomes]
rs59818518	0.81[ASN][1000 genomes]
rs6547701	0.86[ASN][1000 genomes]
rs6711700	0.80[ASN][1000 genomes]
rs72934456	0.86[ASN][1000 genomes]
rs72934463	0.84[ASN][1000 genomes]
rs72934466	0.86[ASN][1000 genomes]
rs7564251	0.86[ASN][1000 genomes]
rs9808243	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86923200-86932800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:86928000-86931600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:86928400-86931400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:86928400-86931400	Weak transcription	Osteobl	bone
5	chr2:86929400-86935800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:86930200-86931000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:86930200-86931000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:86930200-86931000	Enhancers	Fetal Lung	lung
9	chr2:86930200-86931000	Enhancers	NHEK	skin
10	chr2:86930200-86931400	Enhancers	Small Intestine	intestine
11	chr2:86930200-86932400	Enhancers	Stomach Mucosa	stomach
12	chr2:86930200-86932400	Enhancers	HMEC	breast
13	chr2:86930200-86933200	Enhancers	Fetal Intestine Small	intestine
14	chr2:86930200-86933400	Enhancers	Fetal Heart	heart
15	chr2:86930400-86931000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:86930400-86931000	Enhancers	Brain Substantia Nigra	brain
17	chr2:86930400-86931000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:86930400-86931000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr2:86930400-86931000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:86930400-86931000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:86930400-86931000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:86930400-86931200	Enhancers	K562	blood
23	chr2:86930400-86932000	Enhancers	Left Ventricle	heart
24	chr2:86930400-86932200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:86930400-86932600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:86930400-86932600	Enhancers	Psoas Muscle	Psoas
27	chr2:86930600-86931000	Enhancers	Duodenum Mucosa	Duodenum
28	chr2:86930600-86931000	Enhancers	NHDF-Ad	bronchial
29	chr2:86930600-86931800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:86930600-86931800	Enhancers	NH-A	brain
31	chr2:86930600-86932000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:86930600-86932000	Enhancers	Fetal Brain Male	brain
33	chr2:86930600-86932200	Enhancers	HSMMtube	muscle
34	chr2:86930600-86933600	Enhancers	Fetal Intestine Large	intestine
35	chr2:86930800-86931000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:86930800-86931000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:86930800-86931000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:86930800-86931000	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr2:86930800-86931000	Enhancers	HSMM	muscle
40	chr2:86930800-86931200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:86930800-86931200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:86930800-86931200	Active TSS	Brain Hippocampus Middle	brain
43	chr2:86930800-86931200	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr2:86930800-86931200	Active TSS	A549	lung
45	chr2:86930800-86931400	Active TSS	Brain Anterior Caudate	brain
46	chr2:86930800-86931400	Active TSS	Brain Germinal Matrix	brain
47	chr2:86930800-86931400	Active TSS	Fetal Brain Female	brain
48	chr2:86930800-86931400	Active TSS	Hela-S3	cervix
49	chr2:86930800-86931600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:86930800-86931600	Active TSS	Brain Angular Gyrus	brain

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