Variant report

Variant	rs719064
Chromosome Location	chr14:72905775-72905776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1004477	0.80[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10139793	0.86[ASN][1000 genomes]
rs10151157	0.91[CEU][hapmap]
rs1155166	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs11628490	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12436059	0.85[EUR][1000 genomes]
rs12436819	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17115530	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17115702	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs17115708	0.90[CHB][hapmap];0.82[CHD][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs1860152	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2007903	0.83[ASN][1000 genomes]
rs2238182	0.87[JPT][hapmap]
rs2238189	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs2238190	0.80[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2239211	0.90[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs2332835	0.96[CEU][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs4903015	0.88[CEU][hapmap]
rs4903019	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4903020	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4903022	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4903023	0.87[JPT][hapmap]
rs4903025	0.83[EUR][1000 genomes]
rs58470149	0.85[ASN][1000 genomes]
rs7143134	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7143154	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7143912	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs7146819	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7153455	0.88[CEU][hapmap]
rs7155105	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs7158962	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs7159438	0.87[JPT][hapmap]
rs7160223	0.87[JPT][hapmap]
rs740536	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8018108	0.92[CEU][hapmap]
rs8022670	0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs9989171	0.96[CEU][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs719064	VSX2	cis	parietal	SCAN
rs719064	C14orf162	cis	cerebellum	SCAN
rs719064	ZNF410	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72891000-72908600	Weak transcription	Left Ventricle	heart
2	chr14:72901200-72906800	Enhancers	Dnd41	blood
3	chr14:72902400-72905800	Weak transcription	Primary T cells from cord blood	blood
4	chr14:72904400-72906000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:72904600-72906200	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:72904800-72909000	Enhancers	Fetal Thymus	thymus
7	chr14:72905000-72905800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
8	chr14:72905400-72905800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:72905600-72908800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:72905600-72911200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:72905600-72912200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links