Variant report

Variant	rs1982353
Chromosome Location	chr3:134381229-134381230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10212595	0.95[CHD][hapmap]
rs13089566	0.81[JPT][hapmap]
rs1447691	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1823217	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1868164	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4955470	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6763188	1.00[JPT][hapmap]
rs6775611	0.81[JPT][hapmap]
rs7636265	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7637801	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs766492	0.89[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs9818188	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9883955	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1982353	KY	cis	cerebellum	SCAN
rs1982353	CEP63	cis	multi-tissue	Pritchard
rs1982353	TXNDC6	cis	cerebellum	SCAN
rs1982353	ANAPC13	cis	parietal	SCAN
rs1982353	ANAPC13	cis	cerebellum	SCAN
rs1982353	ANAPC13	cis	multi-tissue	Pritchard

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134371000-134386800	Weak transcription	Pancreas	Pancrea
2	chr3:134376800-134382800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:134378200-134384000	Weak transcription	Fetal Brain Male	brain
4	chr3:134378400-134382600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:134379400-134381600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr3:134379400-134382200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:134379600-134381600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:134379600-134382000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:134379800-134381600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:134379800-134382200	Weak transcription	Left Ventricle	heart
11	chr3:134379800-134382200	Weak transcription	Psoas Muscle	Psoas
12	chr3:134379800-134382400	Weak transcription	Fetal Heart	heart
13	chr3:134380000-134382200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:134380800-134385200	Enhancers	Fetal Muscle Trunk	muscle
15	chr3:134380800-134386600	Enhancers	Fetal Muscle Leg	muscle
16	chr3:134381200-134381400	Enhancers	Fetal Brain Female	brain

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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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