Variant report

Variant	rs7515808
Chromosome Location	chr1:56972400-56972401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56970988..56973563-chr1:56974719..56979116,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10157636	0.95[JPT][hapmap]
rs11206833	0.80[CHD][hapmap];0.81[JPT][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs11583161	0.95[JPT][hapmap]
rs11590570	0.94[JPT][hapmap]
rs12081589	0.95[JPT][hapmap]
rs1418978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1930762	0.81[JPT][hapmap]
rs4532850	0.81[JPT][hapmap]
rs4912314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6690245	0.95[JPT][hapmap]
rs7512545	0.95[JPT][hapmap]
rs7519268	0.95[JPT][hapmap]
rs7554557	0.95[JPT][hapmap]
rs7556056	0.81[JPT][hapmap]
rs993075	0.81[JPT][hapmap]

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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7515808	ZYG11A	cis	cerebellum	SCAN
rs7515808	PRPF38A	cis	parietal	SCAN
rs7515808	CYB5RL	cis	parietal	SCAN
rs7515808	CDCP2	cis	parietal	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56957800-56975600	Weak transcription	Fetal Brain Female	brain
2	chr1:56958000-56975600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:56958000-56977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:56959800-56972800	Weak transcription	Dnd41	blood
5	chr1:56960800-56976000	Genic enhancers	HepG2	liver
6	chr1:56961400-56972600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:56961400-56972800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:56962400-56976000	Weak transcription	NH-A	brain
9	chr1:56964200-56972600	Weak transcription	Small Intestine	intestine
10	chr1:56964800-56976000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:56964800-56979200	Genic enhancers	NHDF-Ad	bronchial
12	chr1:56965000-56975600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:56965200-56975600	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr1:56965200-56975600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:56965800-56975600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:56965800-56975800	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:56966000-56980600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:56966800-56974600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:56966800-56975800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:56967400-56978400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:56967800-56975600	Weak transcription	Fetal Brain Male	brain
23	chr1:56968000-56976000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:56968200-56975000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:56968200-56975400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:56968400-56972600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:56968600-56973000	Weak transcription	Brain Anterior Caudate	brain
28	chr1:56968600-56975600	Strong transcription	Stomach Smooth Muscle	stomach
29	chr1:56968800-56972400	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr1:56968800-56972400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:56968800-56973000	Weak transcription	Brain Angular Gyrus	brain
32	chr1:56968800-56973800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:56968800-56974000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:56968800-56974400	Strong transcription	A549	lung
35	chr1:56969000-56979200	Genic enhancers	Lung	lung
36	chr1:56969400-56973200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:56969400-56973800	Strong transcription	Osteobl	bone
38	chr1:56970200-56974800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:56970400-56977400	Genic enhancers	Fetal Intestine Large	intestine
40	chr1:56970600-56972600	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:56970800-56972400	Strong transcription	Fetal Kidney	kidney
42	chr1:56970800-56972800	Enhancers	K562	blood
43	chr1:56970800-56973000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr1:56970800-56975000	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr1:56970800-56975200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr1:56970800-56977400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
47	chr1:56970800-56978000	Genic enhancers	Fetal Intestine Small	intestine
48	chr1:56970800-56978200	Enhancers	Right Atrium	heart
49	chr1:56971000-56973000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:56971000-56973400	Enhancers	Primary hematopoietic stem cells	blood

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