Variant report

Variant	rs7721000
Chromosome Location	chr5:80076451-80076452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1979005	0.85[ASN][1000 genomes]
rs3797885	0.81[ASN][1000 genomes]
rs3797886	0.81[ASN][1000 genomes]
rs3797896	1.00[ASN][1000 genomes]
rs3797897	0.87[ASN][1000 genomes]
rs3816729	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4703818	1.00[ASN][1000 genomes]
rs4704683	0.87[AMR][1000 genomes];0.81[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]
rs6151826	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6151865	0.98[ASN][1000 genomes]
rs6151901	0.87[ASN][1000 genomes]
rs6879843	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881898	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894961	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72765588	0.88[ASN][1000 genomes]
rs72765599	0.85[ASN][1000 genomes]
rs73125417	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[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:106 , 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	chr5:80042800-80089200	Weak transcription	Brain Substantia Nigra	brain
7	chr5:80042800-80118200	Weak transcription	Spleen	Spleen
8	chr5:80042800-80173400	Weak transcription	Right Ventricle	heart
9	chr5:80043600-80089000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:80044000-80096400	Weak transcription	Brain Anterior Caudate	brain
11	chr5:80048800-80088000	Weak transcription	Fetal Kidney	kidney
12	chr5:80049400-80089000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:80049600-80077000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:80049800-80088800	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:80051000-80078600	Weak transcription	NHDF-Ad	bronchial
16	chr5:80051200-80077000	Weak transcription	NH-A	brain
17	chr5:80051200-80084000	Weak transcription	Thymus	Thymus
18	chr5:80051600-80088600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:80051600-80088800	Weak transcription	Colonic Mucosa	Colon
20	chr5:80051600-80095000	Weak transcription	Psoas Muscle	Psoas
21	chr5:80051800-80089000	Weak transcription	HSMMtube	muscle
22	chr5:80052200-80095600	Weak transcription	Fetal Brain Male	brain
23	chr5:80052400-80085400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:80053000-80088600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:80056800-80089000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:80057000-80085600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:80057200-80083800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:80057200-80088000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:80057200-80090000	Weak transcription	Aorta	Aorta
30	chr5:80057200-80094200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:80057400-80089200	Weak transcription	K562	blood
32	chr5:80058000-80076800	Weak transcription	NHEK	skin
33	chr5:80058000-80089000	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:80059400-80088600	Weak transcription	Fetal Brain Female	brain
35	chr5:80059600-80089200	Weak transcription	Lung	lung
36	chr5:80059800-80085400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr5:80064400-80088600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:80064600-80088800	Weak transcription	HSMM	muscle
39	chr5:80064800-80089200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr5:80065400-80076800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:80068800-80077200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:80069000-80093600	Weak transcription	Pancreas	Pancrea
43	chr5:80069400-80089200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:80069600-80077000	Weak transcription	HMEC	breast
45	chr5:80070200-80086000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:80071800-80077400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr5:80072000-80079600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr5:80072200-80077800	Strong transcription	Liver	Liver
49	chr5:80072200-80081200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr5:80072800-80089000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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