Variant report

Variant	rs17802697
Chromosome Location	chr2:95667621-95667622
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11164117	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4096824	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4443026	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs67014278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6709052	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6721123	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6723444	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6747563	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7587312	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000661	chr2:95327875-95739468	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1003666	chr2:95618109-95772924	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs17802697	ZNF514	cis	Artery Aorta	GTEx
rs17802697	ZNF514	cis	Temporal Cortex	GTEx
rs17802697	ZNF514	cis	Muscle Skeletal	GTEx
rs17802697	ZNF514	cis	parietal	SCAN
rs17802697	ZNF514	cis	Thyroid	GTEx
rs17802697	CYP4F32P	cis	Esophagus Mucosa	GTEx
rs17802697	ZNF514	Cis_1M	lymphoblastoid	RTeQTL
rs17802697	ZNF514	cis	Artery Tibial	GTEx
rs17802697	ZNF514	cis	Esophagus Mucosa	GTEx
rs17802697	ZNF514	cis	Whole Blood	GTEx
rs17802697	ACTR1B	cis	cerebellum	SCAN
rs17802697	NMNAT2	trans	cerebellum	SCAN
rs17802697	ZNF514	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95664400-95690600	Weak transcription	Right Atrium	heart
2	chr2:95664600-95671600	Weak transcription	Pancreas	Pancrea
3	chr2:95664600-95673000	Weak transcription	Spleen	Spleen
4	chr2:95664800-95686200	Enhancers	Fetal Thymus	thymus
5	chr2:95665600-95670200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:95666200-95670200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:95667000-95667800	Enhancers	Stomach Smooth Muscle	stomach
8	chr2:95667000-95668000	Enhancers	Thymus	Thymus
9	chr2:95667200-95672000	Weak transcription	Fetal Lung	lung
10	chr2:95667400-95670000	Weak transcription	Fetal Muscle Trunk	muscle

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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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