Variant report

Variant	rs73125935
Chromosome Location	chr5:79428719-79428720
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	chr5:79427801..79430494-chr5:79434272..79436282,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11958490	1.00[EUR][1000 genomes]
rs17883722	1.00[EUR][1000 genomes]
rs58066027	1.00[EUR][1000 genomes]
rs58965928	1.00[EUR][1000 genomes]
rs60225067	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125936	1.00[EUR][1000 genomes]
rs73125953	1.00[EUR][1000 genomes]
rs73125957	1.00[EUR][1000 genomes]
rs73125989	1.00[EUR][1000 genomes]
rs73772233	1.00[EUR][1000 genomes]
rs73772249	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79410000-79430800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:79417000-79437000	Weak transcription	Pancreas	Pancrea
3	chr5:79417400-79430400	Weak transcription	Dnd41	blood
4	chr5:79419600-79435200	Weak transcription	Liver	Liver
5	chr5:79420800-79437000	Weak transcription	Lung	lung
6	chr5:79421000-79437000	Weak transcription	Fetal Brain Male	brain
7	chr5:79421200-79435400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:79421200-79436800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:79421600-79435800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:79421600-79438800	Weak transcription	Esophagus	oesophagus
11	chr5:79421800-79430800	Weak transcription	Spleen	Spleen
12	chr5:79422200-79429600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:79423400-79430600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:79423400-79437000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:79424200-79437000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:79424200-79437200	Weak transcription	NHEK	skin
17	chr5:79424400-79436800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:79424400-79437000	Weak transcription	Osteobl	bone
19	chr5:79424600-79429200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:79424600-79431400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:79424800-79429200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:79424800-79437200	Weak transcription	HSMM	muscle
23	chr5:79424800-79438600	Weak transcription	Fetal Intestine Large	intestine
24	chr5:79425000-79428800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:79425000-79428800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:79425000-79431600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:79425000-79436600	Weak transcription	HSMMtube	muscle
28	chr5:79425200-79428800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:79425200-79428800	Weak transcription	Fetal Heart	heart
30	chr5:79425200-79430400	Weak transcription	Fetal Lung	lung
31	chr5:79425200-79430600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:79425200-79433400	Weak transcription	Fetal Stomach	stomach
33	chr5:79425200-79437200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:79425200-79437200	Weak transcription	Placenta	Placenta
35	chr5:79425400-79433400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:79425400-79435800	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:79425400-79436600	Weak transcription	Fetal Kidney	kidney
38	chr5:79425400-79438400	Weak transcription	HepG2	liver
39	chr5:79426600-79432000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr5:79426800-79433800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:79427000-79431200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:79427000-79431800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr5:79427200-79431600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr5:79427200-79435400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:79427400-79430600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr5:79427400-79431800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:79427400-79433600	Weak transcription	Fetal Intestine Small	intestine
48	chr5:79427400-79438400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr5:79427600-79430600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:79427600-79431800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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