Variant report

Variant	rs12515105
Chromosome Location	chr5:107485161-107485162
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10035292	0.80[CHB][hapmap]
rs10054047	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11242662	0.81[CHB][hapmap];0.90[CHD][hapmap];0.91[MEX][hapmap]
rs12523367	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13159387	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158173	0.86[CHB][hapmap]
rs158415	0.81[CHB][hapmap]
rs17161080	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2044710	0.84[GIH][hapmap]
rs2122158	0.82[GIH][hapmap]
rs286741	0.86[CHB][hapmap]
rs286743	0.86[CHB][hapmap]
rs286744	0.86[CHB][hapmap]
rs286776	0.85[CHB][hapmap]
rs286777	0.84[CHB][hapmap]
rs286779	0.86[CHB][hapmap]
rs286794	0.81[CHB][hapmap];0.90[CHD][hapmap];0.80[GIH][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap]
rs286809	0.86[CHB][hapmap]
rs286818	0.86[CHB][hapmap]
rs2922424	0.82[GIH][hapmap]
rs2922426	0.84[GIH][hapmap]
rs2922428	0.87[GIH][hapmap]
rs2966799	0.80[GIH][hapmap]
rs34383	0.86[CHB][hapmap]
rs34415	0.81[CHB][hapmap]
rs34428	0.86[CHB][hapmap]
rs34432	0.86[CHB][hapmap]
rs41129	0.80[CHB][hapmap]
rs41131	0.81[CHB][hapmap]
rs4541643	0.82[GIH][hapmap]
rs457378	0.85[CHB][hapmap]
rs4957550	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs4957738	0.80[CHB][hapmap]
rs6596770	0.84[TSI][hapmap]
rs6870573	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs723396	0.82[MEX][hapmap]
rs7728371	0.81[CHB][hapmap]
rs7732946	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv830441	chr5:107450392-107614557	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12515105	NCRNA00219	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107388400-107510800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:107474600-107511000	Weak transcription	Primary T cells from cord blood	blood
3	chr5:107475200-107527400	Weak transcription	Liver	Liver
4	chr5:107475800-107510400	Weak transcription	Fetal Intestine Small	intestine
5	chr5:107476000-107535600	Weak transcription	Left Ventricle	heart
6	chr5:107477600-107486000	Weak transcription	Psoas Muscle	Psoas
7	chr5:107478800-107488400	Weak transcription	Fetal Lung	lung
8	chr5:107479400-107486000	Weak transcription	Pancreas	Pancrea
9	chr5:107480400-107500000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr5:107480800-107521000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:107481000-107496400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:107481000-107498400	Weak transcription	Fetal Intestine Large	intestine
13	chr5:107481600-107504400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:107482000-107510800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:107482400-107498400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:107484200-107485600	Enhancers	Fetal Heart	heart
17	chr5:107484600-107485400	Enhancers	Skeletal Muscle Male	skeletal muscle

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