Variant report

Variant	rs73125978
Chromosome Location	chr5:79448899-79448900
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs3763033	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763034	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6859084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125972	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125979	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79432400-79449000	Weak transcription	Fetal Brain Female	brain
2	chr5:79433600-79476600	Weak transcription	Small Intestine	intestine
3	chr5:79435800-79453600	Strong transcription	Fetal Intestine Small	intestine
4	chr5:79437600-79449600	Weak transcription	Right Atrium	heart
5	chr5:79437600-79449600	Weak transcription	NHLF	lung
6	chr5:79437600-79456200	Weak transcription	HSMM	muscle
7	chr5:79437600-79464000	Weak transcription	Spleen	Spleen
8	chr5:79437800-79454800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:79437800-79471400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:79438000-79455600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:79438400-79449600	Strong transcription	Placenta	Placenta
12	chr5:79438600-79482600	Weak transcription	Psoas Muscle	Psoas
13	chr5:79439000-79449400	Weak transcription	HMEC	breast
14	chr5:79439200-79455000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:79439200-79456200	Strong transcription	Fetal Stomach	stomach
16	chr5:79439800-79455000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:79439800-79458600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:79440200-79468200	Weak transcription	NHDF-Ad	bronchial
19	chr5:79440800-79449600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:79440800-79449600	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:79441000-79449000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:79441400-79456400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:79441600-79450000	Genic enhancers	Fetal Thymus	thymus
24	chr5:79441800-79450800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:79442000-79450600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:79442000-79453200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:79442000-79487600	Weak transcription	NH-A	brain
28	chr5:79442600-79449600	Weak transcription	Fetal Brain Male	brain
29	chr5:79443000-79450000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:79443600-79449400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:79443600-79451600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:79443800-79449600	Weak transcription	Right Ventricle	heart
33	chr5:79444000-79476800	Weak transcription	Colonic Mucosa	Colon
34	chr5:79444600-79465600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:79444800-79449400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr5:79445000-79456000	Strong transcription	Thymus	Thymus
37	chr5:79445400-79449400	Weak transcription	Fetal Heart	heart
38	chr5:79445600-79454600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:79445800-79454200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:79445800-79464600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr5:79446000-79450400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:79446200-79449400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:79446200-79449400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr5:79446200-79449400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:79446200-79449600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr5:79446200-79451600	Weak transcription	Ovary	ovary
47	chr5:79446200-79453200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:79446200-79464600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:79446200-79465200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:79446400-79450200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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