Variant report

Variant	rs11948437
Chromosome Location	chr5:112679358-112679359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10037429	0.83[YRI][hapmap]
rs11948187	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11948413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11948446	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11948538	1.00[EUR][1000 genomes]
rs11948830	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11949387	1.00[EUR][1000 genomes]
rs11949669	1.00[YRI][hapmap];1.00[AFR][1000 genomes];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	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs11954798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11955591	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956234	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956430	0.85[AMR][1000 genomes]
rs11956800	1.00[EUR][1000 genomes]
rs11959532	1.00[EUR][1000 genomes]
rs11959955	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13161610	0.89[YRI][hapmap]
rs13161969	0.87[YRI][hapmap]
rs182988	0.95[YRI][hapmap]
rs34086862	1.00[AMR][1000 genomes]
rs348939	0.80[YRI][hapmap]
rs4398627	0.89[YRI][hapmap]
rs461034	0.89[YRI][hapmap]
rs57113080	0.83[AMR][1000 genomes]
rs58548907	1.00[EUR][1000 genomes]
rs59757131	1.00[EUR][1000 genomes]
rs61341835	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6878004	0.83[AMR][1000 genomes]
rs7727449	0.84[YRI][hapmap]
rs7731164	0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][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	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	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
3	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
4	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112667000-112681000	Weak transcription	Esophagus	oesophagus
2	chr5:112667200-112680400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112667200-112680600	Weak transcription	NHEK	skin
4	chr5:112667200-112680800	Weak transcription	Right Ventricle	heart
5	chr5:112667200-112681000	Weak transcription	Pancreas	Pancrea
6	chr5:112667200-112693400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:112676600-112679800	Weak transcription	Left Ventricle	heart
8	chr5:112678400-112679400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:112678400-112679800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:112678600-112679400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:112678800-112679400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:112678800-112679600	Flanking Active TSS	Fetal Heart	heart
13	chr5:112678800-112681400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:112678800-112681600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr5:112678800-112682400	Enhancers	HMEC	breast
16	chr5:112679000-112679400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:112679000-112679400	Enhancers	Right Atrium	heart
18	chr5:112679000-112682000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:112679200-112679800	Enhancers	Fetal Stomach	stomach

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