Variant report

Variant	rs926481
Chromosome Location	chr20:41330876-41330877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12479759	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12480300	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12481162	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[MEX][hapmap];1.00[ASN][1000 genomes]
rs13036759	1.00[ASN][1000 genomes]
rs13039155	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16987231	0.90[LWK][hapmap];0.87[MKK][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs2425522	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2425523	1.00[ASN][1000 genomes]
rs2425525	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs2425527	1.00[ASN][1000 genomes]
rs2425531	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3091482	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs3091553	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3092449	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3092626	1.00[ASN][1000 genomes]
rs3092663	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34024739	0.80[AMR][1000 genomes]
rs34130646	1.00[ASN][1000 genomes]
rs34284543	1.00[ASN][1000 genomes]
rs34890358	1.00[ASN][1000 genomes]
rs35177397	1.00[ASN][1000 genomes]
rs35464114	1.00[ASN][1000 genomes]
rs4810369	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs4812619	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs6030436	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7271643	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761011	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs761012	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs909861	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064253	chr20:41120425-41379706	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv915994	chr20:41180550-41464507	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv532517	chr20:41188651-41342196	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv949644	chr20:41207365-41333541	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv912878	chr20:41222480-41361424	Strong transcription Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv833988	chr20:41227788-41379921	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1058990	chr20:41289969-41543912	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv544277	chr20:41289969-41543912	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv586028	chr20:41296994-41381215	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1060878	chr20:41317182-41342290	Weak transcription Strong transcription Enhancers ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs926481	ZSWIM1	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41329600-41331000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr20:41330000-41335200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr20:41330000-41335400	Weak transcription	Colon Smooth Muscle	Colon
4	chr20:41330400-41331400	Enhancers	Liver	Liver
5	chr20:41330400-41335400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:41330600-41331600	Enhancers	Brain Substantia Nigra	brain
7	chr20:41330600-41331600	Enhancers	Stomach Mucosa	stomach
8	chr20:41330800-41331200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr20:41330800-41331200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr20:41330800-41331200	Enhancers	Duodenum Mucosa	Duodenum
11	chr20:41330800-41331400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr20:41330800-41331400	Enhancers	Brain Angular Gyrus	brain
13	chr20:41330800-41332000	Enhancers	Brain Hippocampus Middle	brain

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