Variant report

Variant	rs1996669
Chromosome Location	chr2:50676817-50676818
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10865246	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11125304	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12465806	0.82[ASN][1000 genomes]
rs12472592	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1520435	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1915174	0.82[ASN][1000 genomes]
rs2139628	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2160444	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35125023	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4031833	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4971669	0.82[ASN][1000 genomes]
rs4971675	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6545169	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6545170	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6721052	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6736016	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6739297	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7607203	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs883027	0.82[ASN][1000 genomes]
rs9917332	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492164	chr2:50399251-51029090	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1000653	chr2:50417660-51083470	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv535693	chr2:50417660-51083470	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv948548	chr2:50569117-50695100	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv948361	chr2:50611076-50785178	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv933786	chr2:50628354-50780185	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1010510	chr2:50649641-51011565	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv535694	chr2:50649641-51011565	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv532650	chr2:50675808-51136752	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50673800-50684200	Weak transcription	Fetal Brain Male	brain
2	chr2:50675400-50677000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:50675400-50677200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:50675400-50677400	Enhancers	Hela-S3	cervix
5	chr2:50676200-50677200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:50676400-50677000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:50676400-50677200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr2:50676400-50677200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:50676600-50677400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:50676800-50677200	Weak transcription	Brain Germinal Matrix	brain
11	chr2:50676800-50677400	Enhancers	H1 Cell Line	embryonic stem cell

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