Variant report

Variant	rs1239952
Chromosome Location	chr13:51105184-51105185
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1239945	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1239948	0.93[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1239951	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs279074	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs493616	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs522070	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs568043	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs644073	0.95[AFR][1000 genomes];0.84[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	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51100000-51105200	Enhancers	Primary T cells from cord blood	blood
2	chr13:51100400-51105200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr13:51102000-51106000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:51102200-51106000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:51103800-51110600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:51104000-51105400	Enhancers	Dnd41	blood
7	chr13:51104000-51106200	Enhancers	Liver	Liver
8	chr13:51104000-51106400	Weak transcription	Thymus	Thymus
9	chr13:51104000-51106800	Enhancers	Osteobl	bone
10	chr13:51104200-51105600	Weak transcription	Brain Anterior Caudate	brain
11	chr13:51104200-51105600	Weak transcription	Colon Smooth Muscle	Colon
12	chr13:51104200-51105800	Weak transcription	NH-A	brain
13	chr13:51104200-51105800	Weak transcription	NHDF-Ad	bronchial
14	chr13:51104400-51105600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:51104400-51105600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr13:51104400-51106200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:51104400-51106800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:51104600-51105600	Weak transcription	HSMM	muscle
19	chr13:51104600-51105800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr13:51104600-51105800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr13:51104600-51105800	Weak transcription	HSMMtube	muscle
22	chr13:51104600-51106000	Weak transcription	Adipose Nuclei	Adipose
23	chr13:51104600-51106000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr13:51104600-51106600	Weak transcription	HMEC	breast
25	chr13:51104600-51106600	Weak transcription	HUVEC	blood vessel
26	chr13:51104600-51107000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:51104800-51105800	Weak transcription	Fetal Heart	heart
28	chr13:51104800-51108400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:51104800-51110600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:51105000-51106000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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