Variant report

Variant	rs2737030
Chromosome Location	chr4:90710099-90710100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10005233	1.00[ASN][1000 genomes]
rs10008964	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028246	0.86[ASN][1000 genomes]
rs1348224	0.87[ASN][1000 genomes]
rs1372517	0.83[ASN][1000 genomes]
rs1372518	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1372519	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1372520	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1372521	0.86[ASN][1000 genomes]
rs1372522	0.82[ASN][1000 genomes]
rs1442144	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1442148	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1471483	0.83[ASN][1000 genomes]
rs1471484	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1811442	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1811443	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1822217	0.86[ASN][1000 genomes]
rs1837891	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184810	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2197120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245801	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2301134	0.90[ASN][1000 genomes]
rs2301135	0.91[ASN][1000 genomes]
rs2572318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2572320	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583962	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583968	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2583972	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2583975	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2583978	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2619341	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619347	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2619349	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2619355	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2619356	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2619368	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2737002	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2737010	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2737011	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2737021	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2737025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2737028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28415623	0.83[ASN][1000 genomes]
rs28507349	0.86[ASN][1000 genomes]
rs3113355	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs356162	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs356186	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356188	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs356191	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs356196	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs356197	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs356198	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs3756059	0.83[ASN][1000 genomes]
rs3756063	0.83[ASN][1000 genomes]
rs3806789	0.84[ASN][1000 genomes]
rs4293762	1.00[ASN][1000 genomes]
rs58864428	0.86[ASN][1000 genomes]
rs6532191	0.97[ASN][1000 genomes]
rs6532192	0.87[ASN][1000 genomes]
rs6532193	0.87[ASN][1000 genomes]
rs6816736	0.86[ASN][1000 genomes]
rs6817001	0.86[ASN][1000 genomes]
rs6828271	0.84[ASN][1000 genomes]
rs6843084	0.86[ASN][1000 genomes]
rs748849	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7680557	0.87[ASN][1000 genomes]
rs7680761	0.87[ASN][1000 genomes]
rs7681154	0.85[ASN][1000 genomes]
rs7681440	0.83[ASN][1000 genomes]
rs7687945	0.87[ASN][1000 genomes]
rs894280	0.87[ASN][1000 genomes]
rs920624	0.97[ASN][1000 genomes]
rs990085	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830400	chr4:90085456-90922432	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv879536	chr4:90678541-90775212	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90687200-90718400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:90697000-90711000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:90703000-90712600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:90705600-90718400	Weak transcription	Brain Angular Gyrus	brain
5	chr4:90706400-90733800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:90707800-90721400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:90709000-90710200	Enhancers	Fetal Heart	heart
8	chr4:90709200-90710200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:90709200-90711400	Enhancers	HUVEC	blood vessel
10	chr4:90709400-90710200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:90709400-90710200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:90709400-90710200	Enhancers	Brain Cingulate Gyrus	brain
13	chr4:90709600-90732600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:90709800-90711200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:90709800-90711600	Enhancers	Fetal Lung	lung
16	chr4:90709800-90735400	Weak transcription	Ovary	ovary
17	chr4:90710000-90712600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:90710000-90718000	Weak transcription	HMEC	breast

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