Variant report

Variant	rs4703818
Chromosome Location	chr5:80090726-80090727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80089229..80091065-chr5:80116335..80118690,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1979005	0.85[ASN][1000 genomes]
rs3776971	0.80[AMR][1000 genomes]
rs3797885	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3797886	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3797896	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797897	0.87[ASN][1000 genomes]
rs3816729	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4704680	0.87[AMR][1000 genomes]
rs4704681	0.87[AMR][1000 genomes]
rs4704683	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4704686	0.85[ASN][1000 genomes]
rs4704687	0.85[ASN][1000 genomes]
rs58508689	0.87[ASN][1000 genomes]
rs6151685	0.85[AMR][1000 genomes]
rs6151769	0.81[AMR][1000 genomes]
rs6151789	0.90[AMR][1000 genomes]
rs6151826	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6151865	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6151901	0.87[ASN][1000 genomes]
rs6879843	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881898	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894961	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72765588	0.88[ASN][1000 genomes]
rs72765599	0.85[ASN][1000 genomes]
rs73125417	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7721000	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv882231	chr5:79984714-80187929	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016100	chr5:80023679-80254194	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79971800-80112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:79985000-80100600	Weak transcription	Brain Germinal Matrix	brain
3	chr5:79998800-80109400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:80041200-80100400	Weak transcription	Gastric	stomach
5	chr5:80041800-80094200	Weak transcription	NHLF	lung
6	chr5:80042800-80118200	Weak transcription	Spleen	Spleen
7	chr5:80042800-80173400	Weak transcription	Right Ventricle	heart
8	chr5:80044000-80096400	Weak transcription	Brain Anterior Caudate	brain
9	chr5:80051600-80095000	Weak transcription	Psoas Muscle	Psoas
10	chr5:80052200-80095600	Weak transcription	Fetal Brain Male	brain
11	chr5:80057200-80094200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:80069000-80093600	Weak transcription	Pancreas	Pancrea
13	chr5:80073200-80093600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:80073400-80112800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:80075200-80114000	Weak transcription	Stomach Mucosa	stomach
16	chr5:80076200-80109600	Weak transcription	HepG2	liver
17	chr5:80077400-80108000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:80077600-80112000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:80077600-80118800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:80079200-80093400	Weak transcription	NH-A	brain
21	chr5:80083000-80101400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr5:80083200-80091600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:80083200-80093000	Strong transcription	Liver	Liver
24	chr5:80083200-80093600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:80083200-80098400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr5:80083400-80092800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:80083400-80093600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr5:80083800-80098800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr5:80084000-80092200	Weak transcription	NHDF-Ad	bronchial
30	chr5:80085200-80127600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr5:80085400-80091400	Strong transcription	Primary hematopoietic stem cells	blood
32	chr5:80085800-80091400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:80086000-80091200	Strong transcription	Dnd41	blood
34	chr5:80086400-80091400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr5:80087400-80094400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:80087400-80132800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr5:80087600-80090800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:80087600-80091400	Strong transcription	Primary B cells from cord blood	blood
39	chr5:80087600-80091600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:80087600-80091600	Strong transcription	Primary T cells from cord blood	blood
41	chr5:80087600-80091600	Strong transcription	Fetal Intestine Large	intestine
42	chr5:80087600-80091800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:80087800-80091600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:80087800-80095200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr5:80087800-80167400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:80088000-80090800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:80088000-80091400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:80088000-80091600	Strong transcription	Adipose Nuclei	Adipose
49	chr5:80088000-80091800	Strong transcription	Osteobl	bone
50	chr5:80088000-80093200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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