Variant report

Variant	rs12340476
Chromosome Location	chr9:85540229-85540230
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10117640	0.84[ASN][1000 genomes]
rs17085898	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4877723	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60164204	0.82[EUR][1000 genomes]
rs7864604	0.88[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	nsv1035314	chr9:85348780-85549246	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv540161	chr9:85348780-85549246	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1050771	chr9:85416931-85643417	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv893511	chr9:85495968-85833127	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3397497	chr9:85540174-85540451	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85537400-85540400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:85539000-85549600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:85539600-85541400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr9:85539800-85540600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:85539800-85540600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:85539800-85543000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr9:85540000-85549400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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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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