Variant report

Variant	rs7631540
Chromosome Location	chr3:113830519-113830520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2046496	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35166139	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7631635	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877352	chr3:113744010-113870078	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv877353	chr3:113789029-113879562	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7631540	GTPBP8	cis	parietal	SCAN
rs7631540	ATP6V1A	cis	parietal	SCAN
rs7631540	ZBED2	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113827200-113831200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:113827200-113842600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:113828400-113830600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:113828600-113831200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr3:113828800-113830600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:113829000-113830600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:113829200-113830600	Enhancers	Primary hematopoietic stem cells	blood
8	chr3:113829200-113830600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:113829200-113831200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr3:113829600-113830600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:113830000-113830800	Active TSS	Primary B cells from cord blood	blood
12	chr3:113830200-113830800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:113830200-113831000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:113830200-113834000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:113830400-113830600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:113830400-113831400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:113830400-113831600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:113830400-113831600	Enhancers	Primary monocytes fromperipheralblood	blood

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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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