Variant report

Variant	rs17072059
Chromosome Location	chr13:49255972-49255973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11843756	1.00[ASN][1000 genomes]
rs61183001	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9591193	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9591199	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9591201	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9591203	0.82[CEU][hapmap]
rs9591211	1.00[CHB][hapmap]
rs9595959	1.00[ASN][1000 genomes]
rs9595969	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9595973	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 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	chr13:49251000-49257200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr13:49251800-49256000	Enhancers	Placenta	Placenta
3	chr13:49251800-49281600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr13:49252000-49262200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:49252000-49283600	Weak transcription	Primary T cells from cord blood	blood
6	chr13:49252200-49256200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr13:49252800-49258200	Weak transcription	Dnd41	blood
8	chr13:49255000-49259200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:49255200-49257200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr13:49255200-49257400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr13:49255600-49256400	Enhancers	Right Atrium	heart
12	chr13:49255800-49256400	Enhancers	Right Ventricle	heart
13	chr13:49255800-49257000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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

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