Variant report

Variant	rs1969090
Chromosome Location	chr15:82387951-82387952
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11073033	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12908200	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1827488	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[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	nsv833067	chr15:82234980-82450485	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2422504	chr15:82293064-82426400	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv457211	chr15:82362125-82396347	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv570241	chr15:82362125-82396347	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv570242	chr15:82370616-82409727	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1969090	BTBD1	cis	parietal	SCAN
rs1969090	ETFA	cis	cerebellum	SCAN
rs1969090	GOLGA6L9	cis	Nerve Tibial	GTEx
rs1969090	FAM108C1	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82383600-82391000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:82384800-82392200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:82386600-82388000	Enhancers	K562	blood
4	chr15:82386600-82392600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr15:82387000-82392400	Weak transcription	Osteobl	bone
6	chr15:82387600-82388000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:82387600-82392400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr15:82387800-82391600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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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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