Variant report

Variant	rs11583762
Chromosome Location	chr1:155085270-155085271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10796938	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11264312	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11264313	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11264314	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11264318	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11264319	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11264323	0.82[ASN][1000 genomes]
rs11581730	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4625273	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56112907	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6427158	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6693477	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7364869	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7365544	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7366355	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7368345	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7546746	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7548955	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv872455	chr1:155003954-155106550	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv998756	chr1:155080090-155136545	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
5	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
6	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11583762	GBAP1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155078600-155090200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:155078600-155098400	Weak transcription	Right Atrium	heart
3	chr1:155082800-155085400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:155084800-155085600	Enhancers	Hela-S3	cervix
5	chr1:155085000-155086000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:155085000-155086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:155085000-155086200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:155085000-155089400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:155085200-155085600	Weak transcription	HepG2	liver

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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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