Variant report

Variant	rs4610451
Chromosome Location	chr5:113591317-113591318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10036437	0.83[ASN][1000 genomes]
rs10044601	0.83[ASN][1000 genomes]
rs10050664	0.81[AFR][1000 genomes]
rs10053242	1.00[JPT][hapmap]
rs4235758	0.86[ASN][1000 genomes]
rs4235759	0.85[ASN][1000 genomes]
rs4235760	0.82[AFR][1000 genomes]
rs4259162	0.81[AFR][1000 genomes]
rs4330454	0.82[AFR][1000 genomes]
rs4368719	0.89[AFR][1000 genomes]
rs4478312	0.82[AFR][1000 genomes]
rs4484417	0.92[ASN][1000 genomes]
rs4489054	0.90[AFR][1000 genomes]
rs4496701	0.90[AFR][1000 genomes]
rs4519914	0.82[AFR][1000 genomes]
rs4590173	0.86[AFR][1000 genomes]
rs4597957	1.00[JPT][hapmap]
rs4618418	0.81[AFR][1000 genomes]
rs4624785	0.88[AFR][1000 genomes]
rs4705495	0.92[ASN][1000 genomes]
rs4705651	0.92[ASN][1000 genomes]
rs6594805	0.90[AFR][1000 genomes]
rs6594807	0.81[AFR][1000 genomes]
rs7729494	0.81[AFR][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	nsv882727	chr5:113548400-113602162	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1029021	chr5:113551892-113599644	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv537865	chr5:113551892-113599644	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4610451	DNAJC30	trans	parietal	SCAN
rs4610451	KCNN2	cis	lymphoblastoid	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113588200-113591400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:113588600-113595800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:113590800-113591400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:113590800-113591400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:113590800-113591400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:113591000-113591400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:113591000-113591400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:113591000-113591600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:113591200-113591400	Enhancers	Fetal Heart	heart

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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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