Variant report

Variant	rs2193489
Chromosome Location	chr7:12203194-12203195
allele	A/G
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:25)

rs_ID	r²[population]
rs10231661	0.83[EUR][1000 genomes]
rs10247705	0.97[EUR][1000 genomes]
rs13240800	0.86[EUR][1000 genomes]
rs1347437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1435537	0.94[EUR][1000 genomes]
rs1435538	0.87[EUR][1000 genomes]
rs1435539	0.84[EUR][1000 genomes]
rs17594282	0.97[EUR][1000 genomes]
rs2060483	0.97[EUR][1000 genomes]
rs2117722	0.89[EUR][1000 genomes]
rs2193490	0.97[EUR][1000 genomes]
rs2193491	0.97[EUR][1000 genomes]
rs4281019	0.97[EUR][1000 genomes]
rs4721050	0.82[EUR][1000 genomes]
rs6460886	0.95[ASN][1000 genomes]
rs6460887	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6963608	0.84[EUR][1000 genomes]
rs6973620	0.97[EUR][1000 genomes]
rs6973758	0.97[EUR][1000 genomes]
rs7787454	0.87[ASN][1000 genomes]
rs7789966	0.95[EUR][1000 genomes]
rs7798934	0.96[EUR][1000 genomes]
rs7799366	0.92[EUR][1000 genomes]
rs7801462	0.87[EUR][1000 genomes]
rs7810945	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv887614	chr7:11778424-12211198	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1023608	chr7:12064114-12247520	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1021710	chr7:12164993-12251790	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv887627	chr7:12178793-12227892	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv887628	chr7:12186502-12227892	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1793802	chr7:12201693-12204383	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12198600-12208200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:12202800-12203200	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links