Variant report

Variant	rs2605361
Chromosome Location	chr12:74903531-74903532
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10785124	0.81[AFR][1000 genomes]
rs10785126	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10879793	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11180097	0.84[AFR][1000 genomes]
rs12816388	0.95[CEU][hapmap];0.84[AFR][1000 genomes]
rs1389492	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1461048	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1461050	0.86[AFR][1000 genomes]
rs1493805	0.95[CEU][hapmap];0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1493806	0.95[CEU][hapmap];0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2605330	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2605331	0.86[AFR][1000 genomes]
rs2613882	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs2613887	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2613888	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2613891	0.81[AFR][1000 genomes]
rs2641467	0.95[CEU][hapmap];0.86[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2641481	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv559413	chr12:74754590-74924819	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899292	chr12:74835107-74934162	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv899293	chr12:74835107-74995760	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv899294	chr12:74843754-74906884	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv559414	chr12:74850206-74931349	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
7	nsv899295	chr12:74854750-74984992	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv469475	chr12:74857957-74922723	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv469476	chr12:74857957-74922723	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv559416	chr12:74857957-74922723	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
11	nsv559417	chr12:74857957-74931349	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
12	nsv470303	chr12:74880668-74945356	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a
13	nsv899296	chr12:74880668-74974630	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74902600-74903800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr12:74902800-74903600	Active TSS	K562	blood
3	chr12:74903200-74903600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr12:74903200-74903600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:74903400-74904000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:74903400-74904000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:74903400-74904000	Enhancers	HepG2	liver
8	chr12:74903400-74904600	Enhancers	A549	lung

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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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