Variant report

Variant	rs4128982
Chromosome Location	chr8:131897082-131897083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2217826	0.82[EUR][1000 genomes]
rs2917050	0.83[EUR][1000 genomes]
rs4130328	1.00[ASN][1000 genomes]
rs4736717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980959	1.00[ASN][1000 genomes]
rs7465009	1.00[ASN][1000 genomes]
rs7814878	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs976266	0.82[EUR][1000 genomes]
rs976267	0.82[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4128982	FAM49B	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131894400-131897800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:131895600-131897200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr8:131895800-131897200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:131895800-131914600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:131896000-131897200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:131896000-131897200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:131896000-131897200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:131896000-131897600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:131896200-131897400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:131896200-131897600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:131896600-131897200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:131896800-131897200	Enhancers	H9 Cell Line	embryonic stem cell

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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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