Variant report

Variant	rs1269275
Chromosome Location	chr13:50895365-50895366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50886873..50888479-chr13:50894394..50897216,2	K562	blood:
2	chr13:50699318..50701616-chr13:50893692..50896245,2	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1149864	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1149869	1.00[ASN][1000 genomes]
rs1269265	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs1269272	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17074146	0.97[ASN][1000 genomes]
rs1924374	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.83[YRI][hapmap];0.97[ASN][1000 genomes]
rs2240810	0.89[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.83[YRI][hapmap];0.97[ASN][1000 genomes]
rs2532968	0.96[ASN][1000 genomes]
rs806305	0.89[ASN][1000 genomes]
rs806309	0.90[ASN][1000 genomes]
rs806348	0.81[ASN][1000 genomes]
rs806354	0.84[ASN][1000 genomes]
rs806356	0.85[ASN][1000 genomes]
rs806359	0.83[ASN][1000 genomes]
rs811714	0.89[ASN][1000 genomes]
rs9535442	0.98[ASN][1000 genomes]
rs9535444	0.98[ASN][1000 genomes]
rs9562961	0.85[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs9568394	0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs9568395	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs9568396	0.90[CHB][hapmap];0.83[ASN][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	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
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv561632	chr13:50874346-50912578	Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1269275	DLEU7	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50892400-50895600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:50892600-50895400	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr13:50892600-50895600	Enhancers	Primary T cells from cord blood	blood
4	chr13:50892600-50896200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:50892800-50895400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr13:50892800-50896000	Enhancers	HepG2	liver
7	chr13:50893000-50895400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr13:50893400-50898200	Weak transcription	Left Ventricle	heart
9	chr13:50893600-50895400	Enhancers	HUVEC	blood vessel
10	chr13:50893600-50896600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr13:50894000-50895800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr13:50894200-50896400	Enhancers	Dnd41	blood
13	chr13:50894600-50897600	Weak transcription	NH-A	brain
14	chr13:50894600-50897600	Weak transcription	NHEK	skin
15	chr13:50894600-50900600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:50894800-50897600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:50894800-50897600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:50894800-50897600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:50895000-50895400	Enhancers	A549	lung
20	chr13:50895000-50896000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr13:50895000-50897200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:50895000-50897200	Weak transcription	NHLF	lung
23	chr13:50895000-50897600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:50895000-50897600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:50895000-50897600	Weak transcription	HMEC	breast
26	chr13:50895000-50900200	Weak transcription	Fetal Thymus	thymus
27	chr13:50895200-50895400	Weak transcription	HSMM	muscle
28	chr13:50895200-50897200	Weak transcription	NHDF-Ad	bronchial
29	chr13:50895200-50897400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr13:50895200-50897600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:50895200-50897600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:50895200-50897600	Weak transcription	Osteobl	bone

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