Variant report

Variant	rs2044455
Chromosome Location	chr7:129196616-129196617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1248463	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1632382	0.86[ASN][1000 genomes]
rs2598179	0.94[ASN][1000 genomes]
rs595444	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[ASN][1000 genomes]
rs670324	0.94[ASN][1000 genomes]
rs6971320	0.97[AFR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][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	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS 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
2	esv3478069	chr7:129157163-129204221	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3478070	chr7:129157177-129204220	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2044455	PLXNA4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129186400-129201600	Weak transcription	Right Atrium	heart
2	chr7:129192800-129201600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:129193000-129198200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:129193000-129200400	Weak transcription	Gastric	stomach
5	chr7:129194400-129198200	Weak transcription	Brain Anterior Caudate	brain
6	chr7:129195800-129197200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:129196400-129197000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:129196400-129197200	Bivalent Enhancer	HepG2	liver
9	chr7:129196400-129197600	Enhancers	K562	blood
10	chr7:129196600-129196800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:129196600-129196800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr7:129196600-129196800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:129196600-129197000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:129196600-129197200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:129196600-129197600	Enhancers	H9 Cell Line	embryonic stem cell

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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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