Variant report

Variant	rs9619283
Chromosome Location	chr22:33033048-33033049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1547413	0.81[CHB][hapmap]
rs16990857	0.93[JPT][hapmap]
rs16990872	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2051569	0.89[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs2157168	0.89[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs2710348	0.88[ASN][1000 genomes]
rs2858223	0.86[JPT][hapmap]
rs3827336	0.86[JPT][hapmap]
rs58208983	0.82[ASN][1000 genomes]
rs67485432	0.86[ASN][1000 genomes]
rs738994	0.85[YRI][hapmap]
rs8135117	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8136042	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8137407	0.93[LWK][hapmap];0.82[YRI][hapmap]
rs8139704	0.93[LWK][hapmap];0.81[MKK][hapmap];0.82[YRI][hapmap]
rs8139932	0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs9609603	0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.93[ASN][1000 genomes]
rs9609608	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs9619281	0.93[LWK][hapmap];0.82[YRI][hapmap]
rs9621508	0.81[JPT][hapmap]
rs9621513	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9621515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621516	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988670	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv459875	chr22:33025180-33097662	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv588896	chr22:33025180-33097662	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9619283	BPIL2	cis	parietal	SCAN
rs9619283	GATSL3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33025400-33033200	Weak transcription	Fetal Kidney	kidney
2	chr22:33029000-33039200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr22:33029200-33036000	Weak transcription	Fetal Stomach	stomach
4	chr22:33030800-33033400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr22:33031000-33040000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr22:33032000-33033200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr22:33032400-33033400	Enhancers	HepG2	liver
8	chr22:33032400-33033600	Enhancers	Fetal Thymus	thymus
9	chr22:33032600-33033200	Enhancers	Placenta	Placenta
10	chr22:33032600-33033400	Enhancers	Fetal Muscle Leg	muscle
11	chr22:33032600-33033600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:33032800-33033200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:33032800-33033200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:33033000-33033200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:33033000-33033400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr22:33033000-33033600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr22:33033000-33033600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr22:33033000-33033600	Enhancers	HMEC	breast

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