Variant report

Variant	rs585805
Chromosome Location	chr2:31492769-31492770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31483534..31486421-chr2:31490300..31493198,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs600236	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs603824	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs631396	0.82[EUR][1000 genomes]
rs646103	0.82[EUR][1000 genomes]
rs646200	0.80[EUR][1000 genomes]
rs661015	0.82[EUR][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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs585805	EHD3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31458800-31493600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr2:31459400-31498600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:31462000-31495600	Weak transcription	Fetal Lung	lung
4	chr2:31463600-31501400	Weak transcription	Pancreas	Pancrea
5	chr2:31465400-31493600	Weak transcription	HSMMtube	muscle
6	chr2:31468200-31501600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:31477000-31493400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:31479600-31493000	Weak transcription	NHEK	skin
9	chr2:31482000-31501000	Weak transcription	Fetal Intestine Large	intestine
10	chr2:31482600-31501400	Weak transcription	Liver	Liver
11	chr2:31485400-31495600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:31486600-31510000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:31487200-31493000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:31487200-31494000	Weak transcription	Fetal Kidney	kidney
15	chr2:31489600-31493600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:31489600-31494800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:31489600-31495200	Weak transcription	Gastric	stomach
18	chr2:31489800-31493400	Weak transcription	Primary T cells from cord blood	blood
19	chr2:31489800-31493400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:31490000-31496800	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:31490000-31502400	Weak transcription	Spleen	Spleen
22	chr2:31490200-31493000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:31490200-31495400	Weak transcription	Fetal Intestine Small	intestine
24	chr2:31490400-31497400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:31490600-31498600	Weak transcription	Brain Germinal Matrix	brain
26	chr2:31490800-31494200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:31491000-31492800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:31491000-31493600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:31491200-31494800	Weak transcription	Fetal Stomach	stomach
30	chr2:31491400-31494400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:31491400-31498600	Enhancers	Placenta	Placenta
32	chr2:31491400-31499800	Weak transcription	Fetal Brain Female	brain
33	chr2:31491600-31493400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:31491600-31495000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:31491600-31495200	Enhancers	HMEC	breast
36	chr2:31491600-31495600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr2:31491800-31492800	Enhancers	Aorta	Aorta
38	chr2:31491800-31493200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:31491800-31494200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:31491800-31494200	Enhancers	Osteobl	bone
41	chr2:31491800-31494400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:31491800-31495000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:31491800-31495000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:31491800-31495000	Enhancers	NHDF-Ad	bronchial
45	chr2:31491800-31495400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:31491800-31496200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:31492000-31493600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:31492000-31494000	Enhancers	H9 Cell Line	embryonic stem cell
49	chr2:31492000-31494000	Weak transcription	NHLF	lung
50	chr2:31492000-31494200	Enhancers	H1 Cell Line	embryonic stem cell

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