Variant report

Variant	rs4669790
Chromosome Location	chr2:12085433-12085434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10197022	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11891008	0.86[ASN][1000 genomes]
rs12692449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12992621	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13016049	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13020054	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13034603	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2033873	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9287740	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9287741	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12079400-12090600	Weak transcription	Esophagus	oesophagus
2	chr2:12081400-12085600	Weak transcription	Right Atrium	heart
3	chr2:12082600-12090400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:12084400-12085600	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:12084400-12085800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:12084400-12085800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr2:12084400-12086000	Enhancers	K562	blood
8	chr2:12084400-12086200	Flanking Active TSS	GM12878-XiMat	blood
9	chr2:12084600-12085600	Enhancers	Primary B cells from cord blood	blood
10	chr2:12084600-12085600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:12084600-12085600	Enhancers	Small Intestine	intestine
12	chr2:12084800-12085600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr2:12084800-12085600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:12084800-12085600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:12084800-12086000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:12084800-12086200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr2:12085000-12086000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:12085400-12085600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:12085400-12085600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr2:12085400-12085600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr2:12085400-12086200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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