Variant report

Variant	rs73784559
Chromosome Location	chr5:127598643-127598644
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	chr5:127592052..127594063-chr5:127598247..127600436,2	K562	blood:
2	chr5:127587584..127589837-chr5:127596586..127599055,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11950276	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11954795	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34131669	0.85[AFR][1000 genomes]
rs34383505	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34525187	0.95[AFR][1000 genomes]
rs55721059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56029012	1.00[AMR][1000 genomes]
rs59010574	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60418844	1.00[AMR][1000 genomes]
rs73784532	1.00[AMR][1000 genomes]
rs73784540	1.00[AMR][1000 genomes]
rs73784541	1.00[AMR][1000 genomes]
rs73784545	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784558	0.88[AFR][1000 genomes];1.00[AMR][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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv830483	chr5:127595570-127705124	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127588800-127613400	Weak transcription	Ovary	ovary
2	chr5:127589000-127670200	Weak transcription	NHDF-Ad	bronchial
3	chr5:127589200-127600000	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:127589200-127612200	Weak transcription	Osteobl	bone
5	chr5:127591200-127600400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:127591200-127607400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:127592200-127606600	Weak transcription	NH-A	brain
8	chr5:127592400-127603800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:127592600-127598800	Weak transcription	Fetal Brain Female	brain
10	chr5:127592600-127604600	Strong transcription	Placenta	Placenta
11	chr5:127592600-127614600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:127592800-127612200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:127592800-127624400	Weak transcription	A549	lung
14	chr5:127592800-127631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:127593000-127613400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:127593400-127600400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:127593800-127599400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:127593800-127600800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:127593800-127635200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:127594000-127599400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:127594000-127599600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr5:127594200-127600000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:127594400-127599600	Weak transcription	Gastric	stomach
24	chr5:127594600-127601200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:127594800-127613600	Weak transcription	HMEC	breast
26	chr5:127595200-127599200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:127595600-127599000	Strong transcription	Fetal Stomach	stomach
28	chr5:127596200-127598800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:127596200-127623800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:127596400-127599000	Strong transcription	NHEK	skin
31	chr5:127596600-127599200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:127596600-127599400	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr5:127596600-127600000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:127597000-127599400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:127597200-127598800	Strong transcription	Fetal Intestine Large	intestine
36	chr5:127597200-127599000	Strong transcription	Fetal Lung	lung
37	chr5:127597200-127599400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:127597400-127598800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:127597400-127599000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:127597400-127599000	Strong transcription	Fetal Heart	heart
41	chr5:127597400-127599000	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr5:127597400-127599200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:127597400-127599400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:127597400-127599400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr5:127597600-127600400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr5:127597800-127598800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:127598200-127599000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:127598200-127599000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:127598400-127598800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:127598400-127598800	Enhancers	Psoas Muscle	Psoas

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