Variant report

Variant	rs72864827
Chromosome Location	chr2:37572043-37572044
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	chr2:37558808..37561496-chr2:37570984..37573398,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207364	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12621268	0.85[AFR][1000 genomes]
rs57555618	0.93[AFR][1000 genomes]
rs60630293	0.83[AFR][1000 genomes]
rs72863190	0.98[AFR][1000 genomes]
rs72864803	0.81[AFR][1000 genomes]
rs72864824	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7578346	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37571000-37572800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:37571000-37572800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr2:37571400-37572200	Flanking Active TSS	Colonic Mucosa	Colon
4	chr2:37571400-37572200	Active TSS	Fetal Brain Female	brain
5	chr2:37571400-37572200	Weak transcription	Fetal Heart	heart
6	chr2:37571400-37572400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr2:37571400-37572400	Active TSS	Brain Anterior Caudate	brain
8	chr2:37571400-37572400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:37571400-37572400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr2:37571400-37572400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr2:37571400-37572600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr2:37571400-37572600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr2:37571400-37572600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:37571400-37572600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:37571400-37572600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr2:37571400-37572600	Active TSS	Brain Substantia Nigra	brain
17	chr2:37571400-37572600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr2:37571400-37572600	Active TSS	Fetal Kidney	kidney
19	chr2:37571400-37572600	Active TSS	Fetal Lung	lung
20	chr2:37571400-37572600	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr2:37571400-37572600	Active TSS	NHLF	lung
22	chr2:37571400-37572800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr2:37571400-37572800	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr2:37571400-37572800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr2:37571400-37572800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:37571400-37572800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:37571400-37572800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr2:37571400-37572800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:37571400-37572800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:37571400-37572800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
31	chr2:37571600-37572200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:37571600-37572200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:37571600-37572200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:37571600-37572200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:37571600-37572200	Flanking Active TSS	Psoas Muscle	Psoas
36	chr2:37571600-37572400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:37571600-37572400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:37571600-37572400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:37571600-37572400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:37571600-37572400	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr2:37571600-37572400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:37571600-37572400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:37571600-37572400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:37571600-37572400	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr2:37571600-37572400	Active TSS	Colon Smooth Muscle	Colon
46	chr2:37571600-37572400	Active TSS	Duodenum Mucosa	Duodenum
47	chr2:37571600-37572400	Active TSS	Fetal Intestine Large	intestine
48	chr2:37571600-37572400	Active TSS	Fetal Intestine Small	intestine
49	chr2:37571600-37572400	Bivalent/Poised TSS	Fetal Stomach	stomach
50	chr2:37571600-37572400	Active TSS	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links