Variant report

Variant	rs12515458
Chromosome Location	chr5:113813148-113813149
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]
rs12719181	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13153326	0.88[ASN][1000 genomes]
rs13154435	0.83[ASN][1000 genomes]
rs13154738	0.83[ASN][1000 genomes]
rs13156054	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13156389	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13160352	0.80[ASN][1000 genomes]
rs1459782	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1459789	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1599176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.96[TSI][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17136666	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1834400	0.90[ASN][1000 genomes]
rs1841248	0.93[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1975851	0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2125772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2125773	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.96[TSI][hapmap];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34484477	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34512774	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35211026	0.99[EUR][1000 genomes]
rs35386131	0.83[ASN][1000 genomes]
rs35495721	0.83[ASN][1000 genomes]
rs35641030	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3891371	0.83[ASN][1000 genomes]
rs4466150	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4705506	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4705671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6870038	0.85[CEU][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes]
rs6889371	0.93[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs7730205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs898354	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs977850	0.81[EUR][1000 genomes];0.83[ASN][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	nsv830451	chr5:113684301-113829833	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv882729	chr5:113743628-114497708	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv830452	chr5:113798617-113975228	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113794200-113813400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:113800200-113813600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:113803200-113816000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:113809600-113814400	Weak transcription	Liver	Liver
5	chr5:113811600-113813200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:113811600-113813600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:113812800-113813800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:113812800-113814000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:113812800-113814200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:113813000-113814000	Enhancers	HUES64 Cell Line	embryonic stem cell

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