Variant report

Variant	rs17270889
Chromosome Location	chr2:182234855-182234856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11690881	0.90[ASN][1000 genomes]
rs17198633	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17198689	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198696	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198703	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198710	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198717	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17270868	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17270882	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17270896	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17270903	0.90[ASN][1000 genomes]
rs17365432	0.86[ASN][1000 genomes]
rs35262123	0.90[ASN][1000 genomes]
rs62180242	0.81[ASN][1000 genomes]
rs62180243	0.81[ASN][1000 genomes]
rs62180246	0.81[ASN][1000 genomes]
rs62180252	0.86[ASN][1000 genomes]
rs62180253	0.91[ASN][1000 genomes]
rs62180258	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62182269	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62189833	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62189855	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62189857	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62189858	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62189859	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6726597	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726903	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9646799	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182224600-182235800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:182226800-182236000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:182227400-182236000	Weak transcription	Thymus	Thymus
4	chr2:182228000-182236000	Weak transcription	GM12878-XiMat	blood
5	chr2:182228200-182235800	Weak transcription	Fetal Thymus	thymus
6	chr2:182229600-182235800	Weak transcription	Primary T cells from cord blood	blood
7	chr2:182233200-182237200	Weak transcription	Fetal Kidney	kidney
8	chr2:182233400-182235800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:182234000-182238200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:182234400-182235000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:182234400-182238400	Enhancers	Dnd41	blood
12	chr2:182234600-182235200	Enhancers	HSMMtube	muscle
13	chr2:182234800-182235000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:182234800-182235200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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