Variant report

Variant	rs11053145
Chromosome Location	chr12:9949652-9949653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9916166..9917917-chr12:9948178..9949717,2	K562	blood:
2	chr12:9947454..9950415-chr12:9957578..9960317,3	K562	blood:
3	chr12:9899277..9916007-chr12:9939474..9959569,108	K562	blood:
4	chr12:9947454..9950264-chr12:9957453..9960317,3	K562	blood:
5	chr12:9937628..9939734-chr12:9949484..9951679,2	K562	blood:
6	chr12:9903167..9904499-chr12:9949360..9951288,15	MCF-7	breast:
7	chr12:9801031..9803712-chr12:9946954..9949811,3	K562	blood:
8	chr12:9901100..9927208-chr12:9932356..9954328,123	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110848	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10128846	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10128969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11053174	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7309379	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485167	0.94[CHB][hapmap]
rs7964276	0.95[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][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	esv3377937	chr12:9938734-9962518	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11053145	SCARNA10	cis	parietal	SCAN
rs11053145	TNFRSF1A	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9941000-9950200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:9945600-9951000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:9946600-9950600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:9947000-9950000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:9947400-9950000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:9947600-9951200	Enhancers	Primary B cells from cord blood	blood
7	chr12:9947600-9951400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:9947800-9950600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:9947800-9951200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:9948000-9950600	Weak transcription	Placenta	Placenta
11	chr12:9948200-9949800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:9948600-9950400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:9948600-9950600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:9948600-9951000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:9948800-9950200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:9949000-9949800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr12:9949000-9949800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr12:9949000-9950200	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr12:9949000-9950800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:9949200-9950000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr12:9949200-9950200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr12:9949200-9950400	Enhancers	Hela-S3	cervix
23	chr12:9949400-9949800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr12:9949400-9949800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:9949400-9951000	Enhancers	Dnd41	blood
26	chr12:9949400-9951000	Enhancers	HUVEC	blood vessel
27	chr12:9949600-9949800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:9949600-9949800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:9949600-9949800	Enhancers	Fetal Thymus	thymus
30	chr12:9949600-9949800	Flanking Active TSS	K562	blood
31	chr12:9949600-9950000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr12:9949600-9950000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:9949600-9950200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr12:9949600-9950200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr12:9949600-9950400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr12:9949600-9950800	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links