Variant report

Variant	rs6762606
Chromosome Location	chr3:134379752-134379753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11720224	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13060869	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13071253	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13071852	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13079012	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13081172	0.94[ASN][1000 genomes]
rs13083717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13085889	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[LWK][hapmap];0.89[MKK][hapmap];0.94[ASN][1000 genomes]
rs13098689	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34136671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34701532	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57936237	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60716777	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637801	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs6762606	ANAPC13	cis	lung	GTEx
rs6762606	ANAPC13	cis	Muscle Skeletal	GTEx
rs6762606	KY	cis	cerebellum	SCAN
rs6762606	ANAPC13	cis	Esophagus Mucosa	GTEx
rs6762606	ANAPC13	cis	Esophagus Muscularis	GTEx
rs6762606	ANAPC13	cis	Nerve Tibial	GTEx
rs6762606	TXNDC6	cis	cerebellum	SCAN
rs6762606	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs6762606	ANAPC13	cis	Artery Tibial	GTEx
rs6762606	ANAPC13	cis	cerebellum	SCAN
rs6762606	ZER1	trans	cerebellum	SCAN
rs6762606	ANAPC13	cis	parietal	SCAN

Chromatin state (count:15 , 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	chr3:134377200-134379800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:134377200-134379800	Enhancers	Psoas Muscle	Psoas
5	chr3:134377800-134379800	Enhancers	Fetal Heart	heart
6	chr3:134378000-134379800	Enhancers	Left Ventricle	heart
7	chr3:134378200-134384000	Weak transcription	Fetal Brain Male	brain
8	chr3:134378400-134382600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:134379200-134380800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr3:134379200-134380800	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:134379400-134381600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:134379400-134382200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:134379600-134379800	Enhancers	Stomach Smooth Muscle	stomach
14	chr3:134379600-134381600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:134379600-134382000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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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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