Variant report

Variant	rs57135232
Chromosome Location	chr5:108185643-108185644
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	chr5:108184650..108186172-chr5:108188231..108189897,2	K562	blood:

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

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

rs_ID	r²[population]
rs33940843	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35990968	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55745292	1.00[EUR][1000 genomes]
rs55769405	0.85[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	1.00[EUR][1000 genomes]
rs56002991	0.85[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]
rs58773536	1.00[EUR][1000 genomes]
rs58862033	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60392464	0.85[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	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780595	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780596	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780598	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780599	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780600	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780602	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781903	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73781904	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781906	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781908	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781909	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781912	0.85[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108147000-108198800	Weak transcription	Aorta	Aorta
2	chr5:108147000-108208800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:108165800-108194200	Weak transcription	NHEK	skin
4	chr5:108166400-108193600	Weak transcription	Primary B cells from cord blood	blood
5	chr5:108166400-108203200	Weak transcription	HSMM	muscle
6	chr5:108166600-108194600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:108166600-108217000	Weak transcription	Left Ventricle	heart
8	chr5:108167200-108220400	Weak transcription	Fetal Lung	lung
9	chr5:108167600-108186400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:108167600-108187000	Weak transcription	Fetal Intestine Small	intestine
11	chr5:108167800-108186200	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:108168200-108186800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:108168200-108194400	Weak transcription	Fetal Heart	heart
14	chr5:108168200-108195000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:108168200-108203800	Weak transcription	Adipose Nuclei	Adipose
16	chr5:108169400-108229200	Weak transcription	Fetal Stomach	stomach
17	chr5:108172000-108194000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:108173000-108199800	Weak transcription	Brain Angular Gyrus	brain
19	chr5:108173400-108239800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:108174600-108186600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:108175400-108194200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:108179000-108186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:108179000-108193600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:108179800-108199800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:108179800-108202000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:108182000-108217000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:108182400-108187200	Weak transcription	Fetal Intestine Large	intestine
28	chr5:108183800-108187000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:108183800-108260400	Weak transcription	Ovary	ovary
30	chr5:108184000-108190200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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