Variant report

Variant	rs12545259
Chromosome Location	chr8:126332311-126332312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10505454	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4255155	0.88[ASN][1000 genomes]
rs4319117	0.92[ASN][1000 genomes]
rs4871588	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470349	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7004468	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7823958	0.92[ASN][1000 genomes]
rs7834279	0.88[ASN][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	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126308000-126336000	Weak transcription	Psoas Muscle	Psoas
2	chr8:126318600-126354600	Weak transcription	Ovary	ovary
3	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
4	chr8:126323600-126340200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:126324200-126354200	Weak transcription	Hela-S3	cervix
6	chr8:126327600-126334200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:126329400-126344000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:126329800-126335000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:126331200-126357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:126331800-126332400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr8:126331800-126340600	Weak transcription	K562	blood
13	chr8:126331800-126341400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:126332000-126332400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:126332000-126333000	Weak transcription	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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