Variant report

Variant	rs248710
Chromosome Location	chr5:126992734-126992735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs711363	0.89[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.82[MKK][hapmap];0.82[YRI][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv599664	chr5:126974071-127016256	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs248710	CTXN3	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126988000-126996000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:126988800-126994200	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:126991400-126995800	Weak transcription	Fetal Stomach	stomach
4	chr5:126991400-127001800	Weak transcription	Fetal Lung	lung
5	chr5:126992200-126992800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:126992200-126992800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:126992200-126993600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr5:126992400-126992800	Enhancers	Fetal Muscle Leg	muscle
9	chr5:126992600-126992800	Enhancers	Psoas Muscle	Psoas
10	chr5:126992600-126993400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr5:126992600-126993600	Enhancers	Lung	lung
12	chr5:126992600-126995200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:126992600-126995600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:126992600-126995600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:126992600-126995600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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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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