Variant report

Variant	rs73955070
Chromosome Location	chr2:114529354-114529355
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114514673..114516598-chr2:114527693..114530348,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10514810	0.92[ASN][1000 genomes]
rs11674510	0.84[AFR][1000 genomes]
rs11676758	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11677881	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679736	0.97[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11687572	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11694541	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17632073	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs17633527	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17683666	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17684620	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166965	0.92[ASN][1000 genomes]
rs2290107	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3748907	0.95[ASN][1000 genomes]
rs41377545	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4849271	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs58351064	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708711	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6725990	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6732182	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73955055	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73955056	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73955057	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73955059	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7581858	0.95[ASN][1000 genomes]
rs7599741	0.82[AFR][1000 genomes]
rs7599832	0.87[AFR][1000 genomes]
rs9753198	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv2883	chr2:114507889-114535199	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv3521146	chr2:114525732-114532730	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3521145	chr2:114526082-114532730	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3521150	chr2:114526469-114532141	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3459738	chr2:114526683-114531812	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3521147	chr2:114526695-114531786	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3521149	chr2:114526701-114531806	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3459739	chr2:114526728-114531791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3521144	chr2:114526738-114531733	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3521143	chr2:114526763-114531745	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3521148	chr2:114526814-114531704	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv498931	chr2:114526817-114531702	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3459740	chr2:114526818-114531702	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3521151	chr2:114526818-114531702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv14064	chr2:114527121-114531330	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs73955070	DDX11L2	cis	Nerve Tibial	GTEx
rs73955070	RPL23AP7	cis	Whole Blood	GTEx
rs73955070	DDX11L2	cis	Whole Blood	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114526800-114529400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:114526800-114529400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:114528800-114529600	Enhancers	H1 Cell Line	embryonic stem cell

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