Variant report

Variant	rs4130328
Chromosome Location	chr8:131895923-131895924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12543125	0.81[AMR][1000 genomes]
rs12545028	0.83[AMR][1000 genomes]
rs12550604	1.00[ASW][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs17248988	0.83[AMR][1000 genomes]
rs2954691	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4128982	1.00[ASN][1000 genomes]
rs4736717	1.00[ASN][1000 genomes]
rs56017199	0.83[AMR][1000 genomes]
rs62518115	0.83[AMR][1000 genomes]
rs62518116	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62518117	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs62518120	0.83[AMR][1000 genomes]
rs6980959	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7465009	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	nsv612294	chr8:131645079-131923377	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891448	chr8:131668278-131968469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1034107	chr8:131740146-131985765	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv539747	chr8:131740146-131985765	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1030881	chr8:131801472-132654822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4130328	OC90	cis	parietal	SCAN
rs4130328	SLA	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131893200-131896000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:131894400-131897800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr8:131895000-131896200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:131895600-131896000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:131895600-131897200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:131895800-131896000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr8:131895800-131896200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:131895800-131897200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:131895800-131914600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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