Variant report

Variant	rs73780594
Chromosome Location	chr5:108176448-108176449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs33940843	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35990968	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55745292	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55769405	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55790655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55792714	1.00[EUR][1000 genomes]
rs55913202	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56002991	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];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	1.00[AMR][1000 genomes]
rs56932426	1.00[EUR][1000 genomes]
rs57135232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58773536	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58862033	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60392464	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6859699	1.00[EUR][1000 genomes]
rs73780555	1.00[EUR][1000 genomes]
rs73780561	1.00[EUR][1000 genomes]
rs73780571	1.00[EUR][1000 genomes]
rs73780580	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73780582	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73780584	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73780585	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73780586	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73780593	1.00[AMR][1000 genomes]
rs73780595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780596	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780598	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780599	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780600	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780602	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781903	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73781904	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781906	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781908	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781909	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781912	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	esv1801555	chr5:108166720-108203055	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108146800-108183600	Weak transcription	Ovary	ovary
2	chr5:108147000-108198800	Weak transcription	Aorta	Aorta
3	chr5:108147000-108208800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:108156400-108178200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:108164800-108182400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:108165800-108181000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:108165800-108194200	Weak transcription	NHEK	skin
8	chr5:108166400-108193600	Weak transcription	Primary B cells from cord blood	blood
9	chr5:108166400-108203200	Weak transcription	HSMM	muscle
10	chr5:108166600-108194600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:108166600-108217000	Weak transcription	Left Ventricle	heart
12	chr5:108166800-108176600	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:108166800-108178400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:108167200-108178000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:108167200-108220400	Weak transcription	Fetal Lung	lung
16	chr5:108167600-108186400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:108167600-108187000	Weak transcription	Fetal Intestine Small	intestine
18	chr5:108167800-108186200	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:108168000-108182200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr5:108168200-108185200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:108168200-108186800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:108168200-108194400	Weak transcription	Fetal Heart	heart
23	chr5:108168200-108195000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:108168200-108203800	Weak transcription	Adipose Nuclei	Adipose
25	chr5:108168400-108181800	Weak transcription	Osteobl	bone
26	chr5:108168800-108180200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:108169400-108229200	Weak transcription	Fetal Stomach	stomach
28	chr5:108169800-108184800	Weak transcription	Fetal Brain Male	brain
29	chr5:108170200-108181600	Weak transcription	HMEC	breast
30	chr5:108172000-108176600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:108172000-108194000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:108172400-108179800	Weak transcription	Brain Substantia Nigra	brain
33	chr5:108173000-108199800	Weak transcription	Brain Angular Gyrus	brain
34	chr5:108173400-108239800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:108174000-108180800	Weak transcription	Lung	lung
36	chr5:108174200-108177000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:108174600-108178200	Weak transcription	Hela-S3	cervix
38	chr5:108174600-108186600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:108175200-108185400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:108175400-108179400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:108175400-108194200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:108175600-108178000	Weak transcription	Primary T cells from cord blood	blood
43	chr5:108176000-108177600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:108176200-108176800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:108176200-108179000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:108176400-108176600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr5:108176400-108176600	Enhancers	NHLF	lung
48	chr5:108176400-108177000	Strong transcription	Liver	Liver
49	chr5:108176400-108177200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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