Variant report

Variant	rs60255630
Chromosome Location	chr5:108220224-108220225
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11958426	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28651469	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35464106	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62360774	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6872127	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6873130	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7709144	0.92[AMR][1000 genomes];0.82[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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv471039	chr5:108133967-108245089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1016343	chr5:108220116-108364687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108167200-108220400	Weak transcription	Fetal Lung	lung
2	chr5:108169400-108229200	Weak transcription	Fetal Stomach	stomach
3	chr5:108173400-108239800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:108183800-108260400	Weak transcription	Ovary	ovary
5	chr5:108194600-108260000	Weak transcription	Fetal Intestine Large	intestine
6	chr5:108194800-108236200	Weak transcription	Hela-S3	cervix
7	chr5:108195200-108231600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:108195200-108231600	Weak transcription	Psoas Muscle	Psoas
9	chr5:108195200-108234400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:108196800-108230000	Weak transcription	Lung	lung
11	chr5:108197000-108268200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:108198600-108229800	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:108198600-108235000	Weak transcription	Fetal Kidney	kidney
14	chr5:108199200-108271400	Weak transcription	Aorta	Aorta
15	chr5:108200200-108232600	Weak transcription	Brain Angular Gyrus	brain
16	chr5:108200200-108246400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:108202000-108229200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:108203600-108220400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:108203800-108323400	Weak transcription	Primary B cells from cord blood	blood
20	chr5:108204400-108237800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr5:108205400-108230200	Weak transcription	Adipose Nuclei	Adipose
22	chr5:108205400-108241400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:108208200-108268800	Weak transcription	Primary T cells from cord blood	blood
24	chr5:108209400-108230000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:108209800-108224000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:108209800-108229800	Weak transcription	HSMM	muscle
27	chr5:108209800-108229800	Weak transcription	NHEK	skin
28	chr5:108209800-108234000	Weak transcription	HMEC	breast
29	chr5:108209800-108234400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:108211000-108226800	Weak transcription	Small Intestine	intestine
31	chr5:108212200-108220600	Weak transcription	NHLF	lung
32	chr5:108212800-108236200	Weak transcription	NHDF-Ad	bronchial
33	chr5:108213600-108220400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:108214200-108272200	Weak transcription	Gastric	stomach
35	chr5:108217000-108220600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:108217200-108233600	Weak transcription	Esophagus	oesophagus
37	chr5:108217200-108236600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:108217400-108229600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:108217400-108233200	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:108217400-108244200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr5:108217400-108253200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:108217600-108323200	Weak transcription	Left Ventricle	heart
43	chr5:108217800-108229800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:108218600-108221400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:108218800-108221000	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr5:108218800-108221200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:108219400-108221200	Enhancers	HUVEC	blood vessel
48	chr5:108219800-108221600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr5:108220200-108220400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:108220200-108220600	Enhancers	HUES64 Cell Line	embryonic stem cell

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