Variant report

Variant	rs317290
Chromosome Location	chr2:76337737-76337738
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10170802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12473082	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1524216	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1608586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1660568	0.91[EUR][1000 genomes]
rs1808871	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2083550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2901742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs317288	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs390810	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs391688	0.91[EUR][1000 genomes]
rs393801	0.91[EUR][1000 genomes]
rs395316	0.81[ASN][1000 genomes]
rs414148	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs422744	0.81[ASN][1000 genomes]
rs425915	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs439012	0.81[ASN][1000 genomes]
rs449418	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4640412	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6753413	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs6759874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834265	chr2:76275611-76450728	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv999645	chr2:76317006-76451354	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv523475	chr2:76333150-76343190	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	esv3457920	chr2:76336795-76338195	Weak transcription Enhancers	CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv3457917	chr2:76336838-76338175	Weak transcription Enhancers	CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	esv3457916	chr2:76336859-76338118	Weak transcription Enhancers	CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv3457918	chr2:76336932-76338094	Weak transcription Enhancers	CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3457921	chr2:76336946-76338091	Enhancers Weak transcription	CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv17034	chr2:76337003-76338022	Weak transcription Enhancers	CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv515558	chr2:76337346-76337737	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76334400-76338600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:76336200-76338600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:76337400-76337800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:76337600-76337800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:76337600-76338000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:76337600-76339200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:76337600-76339200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:76337600-76339200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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