Variant report

Variant	rs61839609
Chromosome Location	chr1:223018934-223018935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11487817	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11487861	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17163510	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17163518	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17163525	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17476063	0.85[AFR][1000 genomes]
rs35271605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35530937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35980718	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4415571	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61838109	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839585	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839589	0.87[AFR][1000 genomes]
rs61839590	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839593	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839610	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839658	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61839659	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61840262	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61840269	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61840288	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61840295	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9441849	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9441937	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1833087	chr1:223017325-223023604	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	esv1840619	chr1:223017325-223023604	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	esv1840763	chr1:223017325-223023604	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv442589	chr1:223017325-223023604	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222989400-223026800	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:222990400-223027400	Weak transcription	Primary B cells from cord blood	blood
3	chr1:223002600-223019800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:223010800-223027600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:223013600-223030800	Weak transcription	Ovary	ovary
6	chr1:223016800-223019400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:223017000-223019200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:223017400-223019800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:223017600-223019400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:223017600-223042400	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:223018200-223019200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr1:223018200-223029600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:223018200-223029800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:223018200-223031000	Weak transcription	Fetal Kidney	kidney
15	chr1:223018400-223019000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:223018400-223021000	Weak transcription	Brain Anterior Caudate	brain
17	chr1:223018400-223030400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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