Variant report

Variant	rs17053283
Chromosome Location	chr3:53661495-53661496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11707976	0.88[YRI][hapmap]
rs11712998	0.84[YRI][hapmap]
rs17053209	1.00[EUR][1000 genomes]
rs17053265	1.00[EUR][1000 genomes]
rs17053279	0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2612019	1.00[EUR][1000 genomes]
rs60549042	1.00[EUR][1000 genomes]
rs6762018	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6802195	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72966323	1.00[EUR][1000 genomes]
rs72966328	1.00[EUR][1000 genomes]
rs7646314	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53652800-53684000	Weak transcription	Right Atrium	heart
2	chr3:53659000-53662400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:53659000-53662800	Weak transcription	Fetal Brain Male	brain
4	chr3:53659200-53663400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:53659400-53664600	Weak transcription	Fetal Kidney	kidney
6	chr3:53659600-53662800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:53659600-53662800	Weak transcription	Fetal Brain Female	brain
8	chr3:53659600-53663400	Weak transcription	Lung	lung
9	chr3:53659600-53663600	Weak transcription	Pancreas	Pancrea
10	chr3:53659800-53661600	Enhancers	Stomach Mucosa	stomach
11	chr3:53660200-53662600	Weak transcription	Brain Germinal Matrix	brain
12	chr3:53660400-53661600	Strong transcription	Fetal Intestine Small	intestine
13	chr3:53660400-53661600	Enhancers	Fetal Lung	lung
14	chr3:53661400-53661600	Enhancers	Esophagus	oesophagus
15	chr3:53661400-53667200	Weak transcription	Fetal Intestine Large	intestine

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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