Variant report

Variant	rs1242509
Chromosome Location	chr17:17363784-17363785
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1242477	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1242478	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1242479	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1242480	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1242481	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1242482	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1242485	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1242486	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1242487	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1242488	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1269402	0.83[EUR][1000 genomes]
rs2694924	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4924852	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065710	chr17:17328111-17391443	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv827909	chr17:17358945-17394331	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17354800-17368000	Weak transcription	Fetal Thymus	thymus
2	chr17:17361600-17365400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr17:17363200-17363800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:17363200-17363800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:17363400-17363800	ZNF genes & repeats	Brain Angular Gyrus	brain
6	chr17:17363400-17363800	ZNF genes & repeats	Fetal Lung	lung
7	chr17:17363600-17363800	Active TSS	Spleen	Spleen
8	chr17:17363600-17364800	Weak transcription	Gastric	stomach
9	chr17:17363600-17365000	Enhancers	HepG2	liver
10	chr17:17363600-17365400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:17363600-17371000	Weak transcription	Pancreas	Pancrea
12	chr17:17363600-17380000	Weak transcription	Right Atrium	heart

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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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