Variant report

Variant	rs7962075
Chromosome Location	chr12:124647078-124647079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10744165	1.00[ASN][1000 genomes]
rs11057471	1.00[ASN][1000 genomes]
rs11057521	1.00[ASN][1000 genomes]
rs12809315	1.00[ASN][1000 genomes]
rs12813142	1.00[ASN][1000 genomes]
rs12827974	1.00[ASN][1000 genomes]
rs12832596	1.00[ASN][1000 genomes]
rs35660813	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7136170	1.00[ASN][1000 genomes]
rs7300551	1.00[ASN][1000 genomes]
rs7302202	1.00[ASN][1000 genomes]
rs7312585	1.00[ASN][1000 genomes]
rs7315307	1.00[ASN][1000 genomes]
rs7961727	1.00[ASN][1000 genomes]
rs7971227	1.00[ASN][1000 genomes]
rs7975859	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv520633	chr12:124548394-124683205	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7962075	BRI3BP	cis	brain	BrainEAC
rs7962075	AACS,LOC100129380	cis	brain	BrainEAC
rs7962075	SBNO1,LOC728046	cis	brain	BrainEAC
rs7962075	NCOR2	cis	brain	BrainEAC
rs7962075	DNAH10	cis	brain	BrainEAC
rs7962075	MPHOSPH9	cis	brain	BrainEAC
rs7962075	CCDC92	cis	brain	BrainEAC
rs7962075	SCARB1	cis	brain	BrainEAC
rs7962075	ATP6V0A2	cis	brain	BrainEAC

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124638800-124654200	Weak transcription	Right Atrium	heart
2	chr12:124642600-124651800	Weak transcription	Fetal Brain Female	brain
3	chr12:124643600-124647200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:124643600-124647200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:124644600-124648800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:124644800-124662200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:124645000-124647200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:124646600-124648000	Enhancers	Stomach Mucosa	stomach
9	chr12:124646800-124649000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:124647000-124647200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:124647000-124647200	Enhancers	Fetal Muscle Leg	muscle
12	chr12:124647000-124647200	Enhancers	Gastric	stomach
13	chr12:124647000-124647400	Enhancers	Duodenum Mucosa	Duodenum
14	chr12:124647000-124647400	Enhancers	Rectal Mucosa Donor 31	rectum

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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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