Variant report

Variant	rs12098063
Chromosome Location	chr1:59414412-59414413
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10889124	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11207335	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11207336	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]
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	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]
rs12092950	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	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:18 , 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	chr1:59410800-59414600	Weak transcription	Fetal Thymus	thymus
5	chr1:59411000-59414600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:59414000-59414600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:59414000-59414800	Enhancers	Primary B cells from peripheral blood	blood
8	chr1:59414000-59415200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:59414000-59415400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr1:59414000-59415600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr1:59414000-59415600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:59414000-59415600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:59414000-59415800	Enhancers	Primary T cells from cord blood	blood
14	chr1:59414000-59415800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:59414200-59415200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:59414400-59415200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:59414400-59415200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:59414400-59415400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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

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