Variant report

Variant	rs319011
Chromosome Location	chr5:41381167-41381168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13155537	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1380998	1.00[JPT][hapmap]
rs1551574	1.00[JPT][hapmap]
rs161088	0.96[EUR][1000 genomes]
rs1613321	0.93[ASW][hapmap];0.85[CEU][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs178466	0.96[EUR][1000 genomes]
rs1817334	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2289786	1.00[JPT][hapmap]
rs318029	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs318030	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs318031	0.90[CEU][hapmap];0.99[EUR][1000 genomes]
rs318035	0.88[ASW][hapmap];0.91[CEU][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs318036	0.91[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs318038	0.91[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs319002	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs319004	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs319005	1.00[JPT][hapmap];0.86[YRI][hapmap]
rs319007	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs319009	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs319012	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs453636	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs62360428	0.96[EUR][1000 genomes]
rs62360566	1.00[EUR][1000 genomes]
rs62360568	1.00[EUR][1000 genomes]
rs62360569	1.00[EUR][1000 genomes]
rs62360573	1.00[EUR][1000 genomes]
rs638701	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs6451574	1.00[JPT][hapmap]
rs672658	1.00[JPT][hapmap]
rs7715750	1.00[JPT][hapmap]
rs897807	0.91[CEU][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41372000-41389400	Weak transcription	Ovary	ovary
2	chr5:41375200-41390800	Weak transcription	Right Ventricle	heart
3	chr5:41375400-41381400	Weak transcription	Left Ventricle	heart
4	chr5:41375600-41381400	Enhancers	Fetal Heart	heart
5	chr5:41380400-41382600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:41381000-41381400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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