Variant report

Variant	rs12092950
Chromosome Location	chr1:59414755-59414756
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10889124	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11207335	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11207336	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11207337	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11207338	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11207341	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11207342	0.98[AFR][1000 genomes]
rs11207343	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059773	1.00[MEX][hapmap]
rs12060581	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070905	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12082896	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091374	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12098063	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1323287	1.00[MEX][hapmap]
rs1331750	1.00[MEX][hapmap]

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	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv546316	chr1:59368947-59457815	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59410000-59415600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:59410200-59415400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:59410400-59415200	Weak transcription	Pancreas	Pancrea
4	chr1:59414000-59414800	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:59414000-59415200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:59414000-59415400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:59414000-59415600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr1:59414000-59415600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr1:59414000-59415600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:59414000-59415800	Enhancers	Primary T cells from cord blood	blood
11	chr1:59414000-59415800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr1:59414200-59415200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr1:59414400-59415200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:59414400-59415200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr1:59414400-59415400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:59414600-59415200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:59414600-59415800	Enhancers	Fetal Thymus	thymus

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links