Variant report

Variant	rs603824
Chromosome Location	chr2:31494428-31494429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1010477	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs585805	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs590009	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs600236	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs602322	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs604986	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs631396	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs635092	0.82[EUR][1000 genomes]
rs644417	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs644736	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs646103	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs646200	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs661015	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs674791	0.88[EUR][1000 genomes];0.80[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	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
rs603824	EHD3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31459400-31498600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:31462000-31495600	Weak transcription	Fetal Lung	lung
3	chr2:31463600-31501400	Weak transcription	Pancreas	Pancrea
4	chr2:31468200-31501600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:31482000-31501000	Weak transcription	Fetal Intestine Large	intestine
6	chr2:31482600-31501400	Weak transcription	Liver	Liver
7	chr2:31485400-31495600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:31486600-31510000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:31489600-31494800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:31489600-31495200	Weak transcription	Gastric	stomach
11	chr2:31490000-31496800	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:31490000-31502400	Weak transcription	Spleen	Spleen
13	chr2:31490200-31495400	Weak transcription	Fetal Intestine Small	intestine
14	chr2:31490400-31497400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:31490600-31498600	Weak transcription	Brain Germinal Matrix	brain
16	chr2:31491200-31494800	Weak transcription	Fetal Stomach	stomach
17	chr2:31491400-31498600	Enhancers	Placenta	Placenta
18	chr2:31491400-31499800	Weak transcription	Fetal Brain Female	brain
19	chr2:31491600-31495000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:31491600-31495200	Enhancers	HMEC	breast
21	chr2:31491600-31495600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr2:31491800-31495000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:31491800-31495000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:31491800-31495000	Enhancers	NHDF-Ad	bronchial
25	chr2:31491800-31495400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:31491800-31496200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:31492000-31495600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:31492000-31497000	Enhancers	Fetal Heart	heart
29	chr2:31492200-31497400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:31492400-31496200	Weak transcription	Left Ventricle	heart
31	chr2:31492400-31496600	Weak transcription	Right Ventricle	heart
32	chr2:31492400-31507800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:31492800-31510600	Weak transcription	Aorta	Aorta
34	chr2:31493600-31495800	Enhancers	Esophagus	oesophagus
35	chr2:31493800-31494800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:31493800-31494800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:31493800-31497000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:31494000-31495000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr2:31494000-31495000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:31494000-31495000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:31494000-31495200	Enhancers	NHLF	lung
42	chr2:31494200-31494600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:31494200-31494600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:31494200-31494600	Weak transcription	NH-A	brain
45	chr2:31494200-31495000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:31494200-31495200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:31494200-31495200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:31494200-31495200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:31494400-31495200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:31494400-31498600	Weak transcription	Fetal Kidney	kidney

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