Variant report

Variant	rs73125979
Chromosome Location	chr5:79450375-79450376
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	chr5:79448931..79451462-chr5:79553566..79555541,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3763033	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763034	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6859084	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125972	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125978	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79433600-79476600	Weak transcription	Small Intestine	intestine
2	chr5:79435800-79453600	Strong transcription	Fetal Intestine Small	intestine
3	chr5:79437600-79456200	Weak transcription	HSMM	muscle
4	chr5:79437600-79464000	Weak transcription	Spleen	Spleen
5	chr5:79437800-79454800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:79437800-79471400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:79438000-79455600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:79438600-79482600	Weak transcription	Psoas Muscle	Psoas
9	chr5:79439200-79455000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:79439200-79456200	Strong transcription	Fetal Stomach	stomach
11	chr5:79439800-79455000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:79439800-79458600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:79440200-79468200	Weak transcription	NHDF-Ad	bronchial
14	chr5:79441400-79456400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:79441800-79450800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:79442000-79450600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
17	chr5:79442000-79453200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:79442000-79487600	Weak transcription	NH-A	brain
19	chr5:79443600-79451600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:79444000-79476800	Weak transcription	Colonic Mucosa	Colon
21	chr5:79444600-79465600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:79445000-79456000	Strong transcription	Thymus	Thymus
23	chr5:79445600-79454600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:79445800-79454200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:79445800-79464600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:79446000-79450400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:79446200-79451600	Weak transcription	Ovary	ovary
28	chr5:79446200-79453200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:79446200-79464600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:79446200-79465200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:79446400-79451800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:79447000-79453200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:79447400-79450400	Enhancers	Brain Substantia Nigra	brain
34	chr5:79447600-79450400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:79447800-79450600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:79447800-79451600	Weak transcription	Fetal Kidney	kidney
37	chr5:79447800-79453400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:79447800-79453600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr5:79447800-79454400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr5:79447800-79458200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:79448000-79450400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr5:79448000-79451600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:79448000-79451800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:79448000-79452000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:79448000-79452400	Weak transcription	Primary B cells from cord blood	blood
46	chr5:79448000-79464600	Weak transcription	Gastric	stomach
47	chr5:79448200-79450600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr5:79448200-79450600	Weak transcription	Osteobl	bone
49	chr5:79448200-79450800	Weak transcription	Esophagus	oesophagus
50	chr5:79448200-79450800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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