Variant report

Variant	rs519704
Chromosome Location	chr2:31805303-31805304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10204002	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1090817	0.90[ASN][1000 genomes]
rs11124267	0.90[ASN][1000 genomes]
rs12997994	0.81[EUR][1000 genomes]
rs13001512	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13006356	0.93[ASN][1000 genomes]
rs13006358	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13027103	0.90[ASN][1000 genomes]
rs13395648	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13432696	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17817040	0.81[EUR][1000 genomes]
rs28383032	0.81[EUR][1000 genomes]
rs34091236	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34124115	0.90[ASN][1000 genomes]
rs34687527	0.88[ASN][1000 genomes]
rs35118236	0.90[ASN][1000 genomes]
rs35574090	0.81[EUR][1000 genomes]
rs3754838	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3819844	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs479847	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4952227	0.90[ASN][1000 genomes]
rs57754448	0.87[ASN][1000 genomes]
rs7562326	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7563475	0.85[ASN][1000 genomes]
rs7567093	0.90[ASN][1000 genomes]
rs7589579	0.90[ASN][1000 genomes]
rs7594951	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs806587	0.90[ASN][1000 genomes]
rs806590	0.90[ASN][1000 genomes]
rs806591	0.82[ASN][1000 genomes]
rs9789452	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv456030	chr2:31598823-31820256	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv456041	chr2:31598823-31820256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv581269	chr2:31598823-31820256	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv998853	chr2:31601455-31858961	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1005565	chr2:31603134-31868877	Genic enhancers Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1007179	chr2:31616112-31835410	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1005032	chr2:31616112-31867450	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1013891	chr2:31629179-31854283	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv535612	chr2:31629179-31854283	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1002988	chr2:31767131-31996924	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31803800-31806000	Active TSS	Liver	Liver
2	chr2:31804800-31807000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr2:31805000-31806000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:31805000-31806000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:31805000-31806200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr2:31805000-31806200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:31805000-31806200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:31805000-31806400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr2:31805000-31806400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:31805000-31806800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:31805200-31805400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:31805200-31805400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr2:31805200-31805400	Bivalent Enhancer	HMEC	breast
14	chr2:31805200-31805600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:31805200-31805600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr2:31805200-31806000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr2:31805200-31806000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:31805200-31806200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr2:31805200-31806200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr2:31805200-31806200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:31805200-31806400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr2:31805200-31806400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr2:31805200-31806400	Bivalent Enhancer	Esophagus	oesophagus
24	chr2:31805200-31806600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin

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