Variant report

Variant	rs17039997
Chromosome Location	chr2:50374801-50374802
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10172776	1.00[EUR][1000 genomes]
rs11900135	1.00[EUR][1000 genomes]
rs13414256	1.00[EUR][1000 genomes]
rs1520527	1.00[EUR][1000 genomes]
rs17039898	1.00[EUR][1000 genomes]
rs17039923	1.00[TSI][hapmap]
rs2076992	1.00[EUR][1000 genomes]
rs2077738	1.00[TSI][hapmap]
rs58188895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58725798	1.00[EUR][1000 genomes]
rs6545141	1.00[EUR][1000 genomes]
rs6545143	1.00[EUR][1000 genomes]
rs6715111	1.00[EUR][1000 genomes]
rs72878105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72878125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72881239	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72881247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72885901	1.00[EUR][1000 genomes]
rs72887804	1.00[EUR][1000 genomes]
rs72887806	1.00[EUR][1000 genomes]
rs72887808	1.00[EUR][1000 genomes]
rs72887814	1.00[EUR][1000 genomes]
rs72887825	1.00[EUR][1000 genomes]
rs72887826	1.00[EUR][1000 genomes]
rs72887828	1.00[EUR][1000 genomes]
rs73930328	1.00[EUR][1000 genomes]
rs73930333	1.00[EUR][1000 genomes]
rs7558542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7570586	1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7579486	1.00[EUR][1000 genomes]
rs7580684	1.00[EUR][1000 genomes]
rs7584237	1.00[EUR][1000 genomes]
rs7601070	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7609169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs993509	1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2756536	chr2:50313811-50375695	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50371600-50375000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:50371600-50375200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:50371600-50375600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:50373400-50375000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:50374000-50375400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:50374400-50375600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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