Variant report

Variant	rs11954798
Chromosome Location	chr5:112640908-112640909
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11948187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11948413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11948437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11948446	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11948538	1.00[EUR][1000 genomes]
rs11948830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11949387	1.00[EUR][1000 genomes]
rs11949669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11950791	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs11952116	0.85[AMR][1000 genomes]
rs11953559	1.00[EUR][1000 genomes]
rs11953906	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs11955591	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956430	0.85[AMR][1000 genomes]
rs11956800	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11959532	1.00[EUR][1000 genomes]
rs11959955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs182988	0.84[YRI][hapmap]
rs34086862	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs461034	0.88[YRI][hapmap]
rs57113080	0.83[AMR][1000 genomes]
rs58548907	1.00[EUR][1000 genomes]
rs61341835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6878004	0.83[AMR][1000 genomes]
rs7731164	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112639400-112645000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:112639800-112641000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:112640400-112641400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:112640800-112641000	Enhancers	Right Atrium	heart
5	chr5:112640800-112641200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:112640800-112641200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:112640800-112641200	Enhancers	HMEC	breast
8	chr5:112640800-112641200	Enhancers	NHEK	skin

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