Variant report

Variant	rs713996
Chromosome Location	chr22:33177778-33177779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000229673	TF binding region
ENSG00000184708	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000100170	Chromatin interaction
ENSG00000100225	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs130561	0.86[CHB][hapmap];0.84[LWK][hapmap];0.87[MEX][hapmap];0.86[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs13057881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs135025	0.85[ASW][hapmap];0.86[CHB][hapmap];0.87[MEX][hapmap];0.92[MKK][hapmap];0.80[TSI][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs242072	0.86[CHB][hapmap]
rs242078	0.81[CHD][hapmap]
rs242082	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs242085	0.86[CHB][hapmap]
rs242088	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs242089	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs4820094	0.83[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];0.90[TSI][hapmap];0.83[ASN][1000 genomes]
rs5998617	0.81[ASN][1000 genomes]
rs5998638	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs737089	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs738992	0.85[ASW][hapmap];0.81[CHD][hapmap];0.89[YRI][hapmap]
rs9606994	0.91[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs9609632	0.91[CHB][hapmap];0.86[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9609633	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061384	chr22:33165464-33191811	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs713996	SEC14L2	cis	cerebellum	SCAN
rs713996	C22orf42	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33173400-33179000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr22:33174200-33184600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr22:33175000-33177800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr22:33176000-33178000	Enhancers	Adipose Nuclei	Adipose
5	chr22:33176400-33181600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr22:33176600-33181400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:33176600-33184800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:33176800-33181800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:33176800-33182800	Enhancers	HepG2	liver
10	chr22:33176800-33185200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr22:33176800-33191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr22:33176800-33196600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr22:33177400-33178200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr22:33177400-33178600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr22:33177400-33179600	Weak transcription	Liver	Liver
16	chr22:33177400-33192800	Weak transcription	Pancreas	Pancrea
17	chr22:33177600-33179800	Weak transcription	Right Atrium	heart
18	chr22:33177600-33180800	Weak transcription	Placenta	Placenta
19	chr22:33177600-33184600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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