Variant report

Variant	rs6837860
Chromosome Location	chr4:99559661-99559662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10034419	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12505801	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12507328	0.86[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1528545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2866014	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs28713515	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532755	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6837798	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837959	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7661136	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7671702	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7686325	1.00[ASN][1000 genomes]
rs871473	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs871474	0.90[CHB][hapmap];0.89[CHD][hapmap]
rs9307228	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9790846	0.81[ASN][1000 genomes]
rs9991053	0.84[AMR][1000 genomes];0.88[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	nsv594940	chr4:99542475-99573350	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6837860	EIF4E	cis	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99546600-99560000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:99546800-99559800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr4:99548000-99560600	Weak transcription	Right Atrium	heart
4	chr4:99548000-99569200	Weak transcription	Gastric	stomach
5	chr4:99548000-99577000	Weak transcription	Esophagus	oesophagus
6	chr4:99548400-99563600	Weak transcription	HSMM	muscle
7	chr4:99549600-99563200	Weak transcription	HMEC	breast
8	chr4:99549800-99563600	Weak transcription	NHEK	skin
9	chr4:99550000-99563600	Weak transcription	HUVEC	blood vessel
10	chr4:99551800-99563200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:99552600-99569600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:99552800-99560000	Weak transcription	Thymus	Thymus
13	chr4:99552800-99560200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr4:99552800-99569200	Weak transcription	Fetal Stomach	stomach
15	chr4:99553200-99564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:99553600-99560000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:99554000-99564000	Weak transcription	Osteobl	bone
18	chr4:99554200-99562600	Weak transcription	NH-A	brain
19	chr4:99554200-99564200	Weak transcription	Pancreas	Pancrea
20	chr4:99554200-99569200	Weak transcription	Spleen	Spleen
21	chr4:99554400-99564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:99555000-99561600	Weak transcription	Fetal Brain Male	brain
23	chr4:99555800-99563200	Enhancers	Brain Cingulate Gyrus	brain
24	chr4:99556400-99559800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:99556600-99560000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:99556600-99560600	Enhancers	Brain Anterior Caudate	brain
27	chr4:99557600-99560800	Weak transcription	Fetal Brain Female	brain
28	chr4:99558000-99560600	Enhancers	Brain Hippocampus Middle	brain
29	chr4:99558000-99560800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:99558000-99561000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr4:99558000-99561800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:99558000-99562000	Enhancers	Brain Substantia Nigra	brain
33	chr4:99558000-99563600	Enhancers	Brain Angular Gyrus	brain
34	chr4:99558200-99560200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:99558200-99560600	Enhancers	Ovary	ovary
36	chr4:99558200-99563000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:99558200-99564200	Weak transcription	Fetal Heart	heart
38	chr4:99558400-99559800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:99558400-99563200	Weak transcription	Right Ventricle	heart
40	chr4:99559000-99560400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:99559200-99560000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:99559200-99560200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:99559200-99560400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:99559200-99560600	Enhancers	Primary T cells fromperipheralblood	blood
45	chr4:99559200-99560600	Enhancers	NHDF-Ad	bronchial
46	chr4:99559200-99560800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr4:99559200-99560800	Enhancers	Placenta	Placenta
48	chr4:99559200-99560800	Enhancers	Stomach Mucosa	stomach
49	chr4:99559200-99561200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr4:99559400-99560200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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