Variant report

Variant	rs11841001
Chromosome Location	chr13:76249103-76249104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10220193	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220197	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841544	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34859014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35791631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67810171	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7991894	1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7993121	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002308	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9593118	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv900579	chr13:76244056-76307981	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Corneal astigmatism	23761726	GWAS catalog

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
2	chr13:76215400-76258200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:76235800-76249200	Weak transcription	Aorta	Aorta
4	chr13:76236000-76249200	Weak transcription	Ovary	ovary
5	chr13:76236800-76267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:76241200-76255600	Weak transcription	HSMMtube	muscle
7	chr13:76244600-76249600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:76244600-76253000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:76245200-76251600	Genic enhancers	Osteobl	bone
10	chr13:76245600-76249800	Weak transcription	Fetal Brain Male	brain
11	chr13:76246200-76249400	Weak transcription	Psoas Muscle	Psoas
12	chr13:76246600-76249800	Weak transcription	Fetal Lung	lung
13	chr13:76247200-76251000	Genic enhancers	HSMM	muscle
14	chr13:76248400-76250400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:76248400-76250800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:76248600-76249400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:76248600-76249600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:76248600-76249600	Active TSS	HMEC	breast
19	chr13:76248800-76249200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:76248800-76249200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr13:76248800-76249200	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr13:76248800-76249200	Enhancers	NH-A	brain
23	chr13:76248800-76249400	Active TSS	Adipose Nuclei	Adipose
24	chr13:76248800-76249600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr13:76248800-76249800	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr13:76248800-76249800	Flanking Active TSS	NHDF-Ad	bronchial
27	chr13:76248800-76250600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr13:76248800-76251200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr13:76249000-76249200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:76249000-76249200	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr13:76249000-76249200	Flanking Active TSS	NHLF	lung
32	chr13:76249000-76249400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:76249000-76249600	Active TSS	Liver	Liver

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