Variant report

Variant	rs2173318
Chromosome Location	chr3:111269236-111269237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:111264798..111266584-chr3:111268166..111269924,2	K562	blood:
2	chr3:111264050..111266298-chr3:111267284..111269924,2	K562	blood:
3	chr3:111267159..111269503-chr3:111303920..111306362,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10511298	0.81[GIH][hapmap]
rs10511299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12633539	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13066911	0.93[EUR][1000 genomes]
rs13087173	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13087579	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1398748	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276873	0.85[GIH][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4682049	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6792149	0.83[ASN][1000 genomes]
rs7628039	0.82[JPT][hapmap]
rs7653347	0.85[GIH][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs9865195	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv997756	chr3:111226058-111376585	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv3946	chr3:111236035-111283038	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111260200-111269800	Enhancers	Primary hematopoietic stem cells	blood
2	chr3:111262600-111269400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
3	chr3:111265000-111271600	Enhancers	Primary B cells from peripheral blood	blood
4	chr3:111265800-111271600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr3:111267200-111269800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:111267400-111270200	Enhancers	Primary B cells from cord blood	blood
7	chr3:111267400-111271000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr3:111268000-111269600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:111268000-111269800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr3:111268000-111269800	Genic enhancers	Fetal Thymus	thymus
11	chr3:111268000-111275000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:111268200-111271200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr3:111268200-111271200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:111268400-111269600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:111268400-111270400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr3:111268400-111272600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr3:111268800-111271600	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr3:111268800-111275000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr3:111268800-111281400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:111269000-111271600	Genic enhancers	Dnd41	blood
21	chr3:111269000-111272600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr3:111269200-111269400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:111269200-111269600	Enhancers	Primary T cells from cord blood	blood
24	chr3:111269200-111269600	Weak transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links