Variant report

Variant	rs8020301
Chromosome Location	chr14:56782283-56782284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10144612	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10483656	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12147737	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1427556	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17688725	0.91[CEU][hapmap]
rs17688801	0.81[CEU][hapmap]
rs17689278	0.81[CEU][hapmap]
rs17762499	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs17762733	0.91[CEU][hapmap]
rs17769788	1.00[EUR][1000 genomes]
rs17832675	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs1951955	0.90[CEU][hapmap]
rs2035283	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2343376	0.81[CEU][hapmap]
rs2343604	1.00[EUR][1000 genomes]
rs28712711	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2880615	0.81[CEU][hapmap]
rs3850298	0.80[CEU][hapmap]
rs3912203	0.91[CEU][hapmap]
rs4127813	0.91[CEU][hapmap]
rs58502917	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs959459	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv901978	chr14:56740554-56799997	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv901979	chr14:56740554-56802610	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56764400-56785600	Weak transcription	Lung	lung
2	chr14:56764400-56798200	Weak transcription	Pancreas	Pancrea
3	chr14:56764400-56808800	Weak transcription	Thymus	Thymus
4	chr14:56768600-56784600	Weak transcription	Dnd41	blood
5	chr14:56774400-56806400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:56778400-56797200	Weak transcription	Ovary	ovary
7	chr14:56779400-56783400	Weak transcription	Aorta	Aorta
8	chr14:56780800-56791400	Weak transcription	Fetal Brain Female	brain
9	chr14:56781000-56784400	Weak transcription	Primary T cells from cord blood	blood
10	chr14:56781000-56785200	Weak transcription	Fetal Intestine Small	intestine
11	chr14:56781800-56782400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:56782200-56782400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:56782200-56783000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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