Variant report

Variant	rs4912314
Chromosome Location	chr1:56968477-56968478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:56967555..56969959-chr1:56994759..56997021,2	K562	blood:
2	chr1:56968459..56970187-chr1:56994690..56997021,2	K562	blood:
3	chr1:56943708..56945910-chr1:56967144..56969336,2	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	0.81[JPT][hapmap]
rs11583161	0.95[JPT][hapmap]
rs11590570	0.94[JPT][hapmap]
rs12081589	0.95[JPT][hapmap]
rs1418978	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1930762	0.81[JPT][hapmap]
rs4532850	0.81[JPT][hapmap]
rs6690245	0.95[JPT][hapmap]
rs7512545	0.95[JPT][hapmap]
rs7515808	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]
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
rs4912314	ZYG11A	cis	cerebellum	SCAN
rs4912314	PRPF38A	cis	parietal	SCAN
rs4912314	CYB5RL	cis	parietal	SCAN
rs4912314	CDCP2	cis	parietal	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56957400-56971800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:56957600-56971800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:56957800-56971800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:56957800-56975600	Weak transcription	Fetal Brain Female	brain
5	chr1:56958000-56975600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:56958000-56977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:56958200-56971600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:56958800-56971600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr1:56959200-56969000	Genic enhancers	Liver	Liver
10	chr1:56959400-56972000	Strong transcription	Fetal Stomach	stomach
11	chr1:56959800-56972800	Weak transcription	Dnd41	blood
12	chr1:56960800-56976000	Genic enhancers	HepG2	liver
13	chr1:56961400-56971400	Weak transcription	Primary B cells from cord blood	blood
14	chr1:56961400-56972600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:56961400-56972800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:56961600-56971800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:56961800-56971600	Weak transcription	Colonic Mucosa	Colon
18	chr1:56962000-56971400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:56962000-56971800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:56962400-56969000	Weak transcription	Lung	lung
21	chr1:56962400-56969400	Weak transcription	Pancreas	Pancrea
22	chr1:56962400-56970200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:56962400-56970800	Weak transcription	HSMMtube	muscle
24	chr1:56962400-56971600	Weak transcription	Esophagus	oesophagus
25	chr1:56962400-56971600	Weak transcription	Ovary	ovary
26	chr1:56962400-56971600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:56962400-56976000	Weak transcription	NH-A	brain
28	chr1:56962600-56969000	Weak transcription	Fetal Intestine Small	intestine
29	chr1:56962600-56969600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:56962600-56972200	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:56962800-56970800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:56962800-56970800	Weak transcription	Fetal Kidney	kidney
33	chr1:56963000-56971600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:56963600-56970600	Weak transcription	Gastric	stomach
35	chr1:56963600-56971000	Weak transcription	Thymus	Thymus
36	chr1:56964000-56971400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:56964200-56971600	Weak transcription	Stomach Mucosa	stomach
38	chr1:56964200-56972600	Weak transcription	Small Intestine	intestine
39	chr1:56964800-56976000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:56964800-56979200	Genic enhancers	NHDF-Ad	bronchial
41	chr1:56965000-56975600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:56965200-56971800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:56965200-56972200	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr1:56965200-56975600	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr1:56965200-56975600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:56965800-56975600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:56965800-56975800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:56966000-56970200	Genic enhancers	Right Ventricle	heart
49	chr1:56966000-56980600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:56966200-56968800	Genic enhancers	Placenta	Placenta

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