Variant report

Variant	rs12675510
Chromosome Location	chr8:89889031-89889032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11778650	0.87[CHB][hapmap]
rs1319026	0.97[ASN][1000 genomes]
rs1548121	0.80[EUR][1000 genomes]
rs1948648	0.96[ASN][1000 genomes]
rs2013540	0.96[ASN][1000 genomes]
rs2454331	0.99[ASN][1000 genomes]
rs34116247	0.95[ASN][1000 genomes]
rs34447991	0.95[ASN][1000 genomes]
rs6987881	0.81[EUR][1000 genomes]
rs6991725	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891173	chr8:89509223-89996790	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1024633	chr8:89517079-89959574	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv539666	chr8:89517079-89959574	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1023877	chr8:89552013-89900874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1023176	chr8:89707267-90154549	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1015363	chr8:89707267-90158090	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1022619	chr8:89709240-90137813	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1032038	chr8:89735634-90068849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv831387	chr8:89804194-90011110	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1021097	chr8:89808660-90024709	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1018348	chr8:89836774-89951911	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1029213	chr8:89841178-89951911	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv2752269	chr8:89887658-89974384	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89887000-89889200	Enhancers	Fetal Heart	heart
2	chr8:89887800-89889400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:89888000-89889200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:89888000-89889400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:89888200-89889200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:89888800-89889200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:89888800-89894200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:89889000-89893800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:89889000-89894000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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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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