Variant report

Variant	rs711359
Chromosome Location	chr5:127155001-127155002
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs245184	0.85[ASN][1000 genomes]
rs245185	1.00[JPT][hapmap];0.83[LWK][hapmap];0.82[YRI][hapmap]
rs6867166	1.00[ASW][hapmap]
rs790474	1.00[ASN][1000 genomes]
rs790476	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs790477	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs790479	0.88[EUR][1000 genomes]
rs790480	0.88[EUR][1000 genomes]
rs790829	0.89[ASW][hapmap]

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	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	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
3	nsv4992	chr5:127151699-127196349	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv980945	chr5:127151707-127155584	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs711359	CTXN3	cis	parietal	SCAN
rs711359	PRRC1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127150000-127159400	Weak transcription	Right Atrium	heart
2	chr5:127151000-127156600	Weak transcription	NHDF-Ad	bronchial
3	chr5:127151000-127159000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:127151000-127161200	Weak transcription	HSMM	muscle
5	chr5:127151200-127156600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:127151200-127156800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:127152400-127156800	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:127154200-127155200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:127154200-127156200	Enhancers	Stomach Mucosa	stomach
10	chr5:127154600-127158600	Weak transcription	ES-WA7 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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