Variant report

Variant	rs56002991
Chromosome Location	chr5:108204324-108204325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs33940843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35990968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55745292	1.00[EUR][1000 genomes]
rs55769405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55790655	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55792714	1.00[EUR][1000 genomes]
rs55913202	1.00[EUR][1000 genomes]
rs56195269	1.00[EUR][1000 genomes]
rs56228037	1.00[EUR][1000 genomes]
rs56264243	1.00[EUR][1000 genomes]
rs56805665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56849207	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56932426	1.00[EUR][1000 genomes]
rs57135232	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58773536	1.00[EUR][1000 genomes]
rs58862033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60392464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6859699	1.00[EUR][1000 genomes]
rs6883695	1.00[EUR][1000 genomes]
rs73780555	1.00[EUR][1000 genomes]
rs73780561	1.00[EUR][1000 genomes]
rs73780571	1.00[EUR][1000 genomes]
rs73780580	1.00[EUR][1000 genomes]
rs73780582	1.00[EUR][1000 genomes]
rs73780584	1.00[EUR][1000 genomes]
rs73780585	1.00[EUR][1000 genomes]
rs73780586	1.00[EUR][1000 genomes]
rs73780593	1.00[AMR][1000 genomes]
rs73780594	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780595	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781903	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73781904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7723765	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108147000-108208800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:108166600-108217000	Weak transcription	Left Ventricle	heart
3	chr5:108167200-108220400	Weak transcription	Fetal Lung	lung
4	chr5:108169400-108229200	Weak transcription	Fetal Stomach	stomach
5	chr5:108173400-108239800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:108182000-108217000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:108183800-108260400	Weak transcription	Ovary	ovary
8	chr5:108187200-108204600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:108187200-108211800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:108194000-108217000	Weak transcription	Esophagus	oesophagus
11	chr5:108194600-108260000	Weak transcription	Fetal Intestine Large	intestine
12	chr5:108194800-108204600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:108194800-108207000	Weak transcription	HUVEC	blood vessel
14	chr5:108194800-108208600	Weak transcription	Osteobl	bone
15	chr5:108194800-108236200	Weak transcription	Hela-S3	cervix
16	chr5:108195000-108204800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:108195000-108211800	Weak transcription	NHDF-Ad	bronchial
18	chr5:108195200-108204800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:108195200-108206600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr5:108195200-108209000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:108195200-108211000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:108195200-108231600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:108195200-108231600	Weak transcription	Psoas Muscle	Psoas
24	chr5:108195200-108234400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:108196800-108230000	Weak transcription	Lung	lung
26	chr5:108197000-108268200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:108197400-108219800	Weak transcription	Placenta	Placenta
28	chr5:108197800-108209600	Weak transcription	Dnd41	blood
29	chr5:108198600-108229800	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:108198600-108235000	Weak transcription	Fetal Kidney	kidney
31	chr5:108198800-108217000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:108199200-108271400	Weak transcription	Aorta	Aorta
33	chr5:108200200-108209000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:108200200-108232600	Weak transcription	Brain Angular Gyrus	brain
35	chr5:108200200-108246400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:108200400-108211400	Weak transcription	Right Ventricle	heart
37	chr5:108200600-108209200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:108202000-108229200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr5:108202200-108208000	Weak transcription	HMEC	breast
40	chr5:108202200-108217200	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:108202400-108212200	Weak transcription	Brain Germinal Matrix	brain
42	chr5:108202600-108204400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr5:108202600-108209200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:108202800-108205000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:108202800-108205600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:108202800-108209200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:108203000-108212200	Weak transcription	Colon Smooth Muscle	Colon
48	chr5:108203200-108205000	Strong transcription	HSMM	muscle
49	chr5:108203200-108205400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:108203400-108208000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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