Variant report

Variant	rs17493894
Chromosome Location	chr2:50233119-50233120
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10172768	0.91[ASN][1000 genomes]
rs10495989	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11891637	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893341	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17039606	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17039676	0.82[ASN][1000 genomes]
rs17439363	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17442274	1.00[YRI][hapmap]
rs17492567	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17494917	1.00[YRI][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6726132	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6730936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7568888	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7571903	0.85[ASN][1000 genomes]
rs7586095	0.85[ASN][1000 genomes]
rs7604754	1.00[CHB][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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	nsv874031	chr2:50202953-50243386	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	nsv581837	chr2:50230334-50268616	Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1011144	chr2:50231111-50270096	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 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	chr2:50229200-50234200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:50230800-50234000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:50231000-50234200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:50231600-50234000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:50231800-50234400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:50232200-50234200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:50232400-50234200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:50232400-50234200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:50232600-50233600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr2:50232600-50234200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:50232800-50234200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr2:50233000-50233200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr2:50233000-50233400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:50233000-50233800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:50233000-50240000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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