Variant report

Variant	rs4694022
Chromosome Location	chr4:91241948-91241949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10008665	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025552	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10026624	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10035064	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10440368	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776487	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1078765	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12642077	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13103126	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1381355	0.96[CEU][hapmap];1.00[TSI][hapmap]
rs1461740	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461741	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461742	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461743	0.85[CHB][hapmap]
rs1466391	0.85[CHB][hapmap]
rs17227797	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17227818	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870795	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1903579	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1988337	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2126282	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2169399	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2169400	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2870246	0.85[CHB][hapmap]
rs3857062	0.85[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap]
rs4353865	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693236	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs4694023	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4694025	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs6821011	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835114	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847035	0.98[ASN][1000 genomes]
rs6854353	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs733661	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7656001	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663503	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663699	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7666333	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669038	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670926	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7679540	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7692505	0.89[ASN][1000 genomes]
rs7693233	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470053	chr4:90879613-91439573	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv931074	chr4:90970476-91753697	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007826	chr4:91049593-91438961	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv537177	chr4:91049593-91438961	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv999065	chr4:91049593-91520073	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv879541	chr4:91156104-91253355	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv879542	chr4:91185206-91287204	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4694022	FAM190A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91222200-91244000	Weak transcription	Pancreas	Pancrea
2	chr4:91228200-91244000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:91228400-91245000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr4:91228600-91249600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:91229800-91246200	Weak transcription	Fetal Intestine Large	intestine
6	chr4:91231800-91249600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:91233400-91244000	Weak transcription	Fetal Intestine Small	intestine
8	chr4:91235000-91243400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:91235000-91244800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:91237800-91248200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:91238000-91249600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:91239200-91247800	Weak transcription	Fetal Kidney	kidney
13	chr4:91239400-91244200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:91239400-91249600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:91239600-91249600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:91240400-91242000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:91240800-91244400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:91241400-91242200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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