Variant report

Variant	rs13358466
Chromosome Location	chr5:127365595-127365596
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10055519	0.96[AFR][1000 genomes]
rs10064377	0.87[AFR][1000 genomes]
rs10065431	0.87[AFR][1000 genomes]
rs10478795	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17164412	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6870817	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6888776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9327467	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1806594	chr5:127336033-127410767	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv1808488	chr5:127336033-127410767	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1825228	chr5:127336033-127410767	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1829119	chr5:127336033-127410767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127328200-127379800	Weak transcription	Esophagus	oesophagus
2	chr5:127332400-127388800	Weak transcription	Aorta	Aorta
3	chr5:127333600-127388800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
5	chr5:127333800-127370800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:127334600-127394000	Weak transcription	Lung	lung
7	chr5:127335000-127397600	Weak transcription	NHDF-Ad	bronchial
8	chr5:127336800-127375000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr5:127343000-127380000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:127345600-127371400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:127347800-127365800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:127351000-127372800	Weak transcription	Brain Angular Gyrus	brain
13	chr5:127352000-127372800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:127352200-127366400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:127353000-127365600	Weak transcription	Dnd41	blood
16	chr5:127353200-127397000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:127354000-127397400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:127354400-127398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:127354600-127365600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr5:127354600-127372600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:127354600-127409800	Weak transcription	Left Ventricle	heart
22	chr5:127354800-127379800	Weak transcription	Fetal Stomach	stomach
23	chr5:127356000-127366200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:127356000-127372600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:127356200-127399200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:127356400-127379600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:127356400-127414000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr5:127357200-127373800	Weak transcription	NH-A	brain
29	chr5:127357200-127393800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:127358000-127368800	Weak transcription	Osteobl	bone
31	chr5:127358000-127378400	Weak transcription	NHLF	lung
32	chr5:127358800-127365600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:127358800-127365600	Weak transcription	HSMMtube	muscle
34	chr5:127358800-127365800	Weak transcription	Primary T cells from cord blood	blood
35	chr5:127358800-127365800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:127358800-127365800	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:127358800-127365800	Weak transcription	HSMM	muscle
38	chr5:127358800-127372600	Weak transcription	HMEC	breast
39	chr5:127358800-127389000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:127359000-127369000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:127359200-127365600	Weak transcription	Primary B cells from cord blood	blood
42	chr5:127359600-127368800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:127359600-127374000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:127359600-127376400	Weak transcription	Ovary	ovary
45	chr5:127359800-127365600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:127359800-127370800	Weak transcription	A549	lung
47	chr5:127360400-127372800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:127360400-127393800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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