Variant report

Variant	rs319002
Chromosome Location	chr5:41366289-41366290
allele	A/G
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:27)

rs_ID	r²[population]
rs13155537	0.96[EUR][1000 genomes]
rs161088	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1613321	1.00[ASN][1000 genomes]
rs178466	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1817334	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445889	1.00[ASN][1000 genomes]
rs318029	0.91[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs318030	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs318031	1.00[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs318035	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs318036	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs318038	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319003	1.00[ASN][1000 genomes]
rs319004	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319007	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319009	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319011	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs319012	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs320604	1.00[ASN][1000 genomes]
rs453636	1.00[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360428	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360566	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360568	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360569	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360573	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs638701	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897807	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427717	chr5:41201377-41369202	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830269	chr5:41209113-41393536	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1851387	chr5:41336050-41423631	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1024631	chr5:41341979-41427953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41350200-41370000	Weak transcription	Ovary	ovary
2	chr5:41357400-41371400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:41361400-41370800	Weak transcription	Right Ventricle	heart
4	chr5:41362800-41366800	Enhancers	Fetal Heart	heart
5	chr5:41364400-41366600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:41364600-41371600	Weak transcription	Left Ventricle	heart
7	chr5:41364800-41368600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:41365200-41368200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:41366200-41367200	Enhancers	Pancreatic Islets	Pancreatic Islet

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