Variant report

Variant	rs74085773
Chromosome Location	chr13:52980028-52980029
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs55645852	0.89[AFR][1000 genomes]
rs55924773	0.89[AFR][1000 genomes]
rs56116089	0.89[AFR][1000 genomes]
rs56252739	0.89[AFR][1000 genomes]
rs60864284	0.89[AFR][1000 genomes]
rs74085745	0.89[AFR][1000 genomes]
rs74085746	0.89[AFR][1000 genomes]
rs74085748	0.89[AFR][1000 genomes]
rs74085750	0.89[AFR][1000 genomes]
rs74085767	0.89[AFR][1000 genomes]
rs74085776	0.89[AFR][1000 genomes]
rs74085781	0.89[AFR][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	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv428288	chr13:52728370-53068132	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv900084	chr13:52835231-53119704	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv1838257	chr13:52971893-53231454	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52978200-52980800	Active TSS	Right Atrium	heart
2	chr13:52978200-52980800	Active TSS	HSMMtube	muscle
3	chr13:52978400-52980400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:52978400-52980800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:52978600-52980800	Active TSS	Brain Anterior Caudate	brain
6	chr13:52978600-52980800	Active TSS	NHDF-Ad	bronchial
7	chr13:52978800-52980600	Active TSS	HSMM	muscle
8	chr13:52978800-52981000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:52979000-52980400	Active TSS	HMEC	breast
10	chr13:52979000-52980600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:52979200-52980400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:52979200-52980400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
13	chr13:52979200-52980600	Active TSS	A549	lung
14	chr13:52979200-52980800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr13:52979200-52980800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:52979400-52980200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:52979400-52980200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr13:52979400-52980200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
19	chr13:52979400-52980600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr13:52979400-52980600	Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr13:52979400-52980600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:52979400-52980600	Flanking Active TSS	Ovary	ovary
23	chr13:52979400-52980800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr13:52979400-52980800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr13:52979400-52980800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:52979400-52980800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr13:52979400-52980800	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr13:52979400-52980800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
29	chr13:52979400-52980800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
30	chr13:52979600-52980200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr13:52979600-52980200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
32	chr13:52979600-52980200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
33	chr13:52979600-52980200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr13:52979600-52980200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
35	chr13:52979600-52980200	Active TSS	Fetal Kidney	kidney
36	chr13:52979600-52980200	Flanking Active TSS	Placenta	Placenta
37	chr13:52979600-52980400	Active TSS	NHEK	skin
38	chr13:52979600-52980600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr13:52979600-52980600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr13:52979600-52980600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
41	chr13:52979600-52980600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr13:52979600-52980600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
43	chr13:52979600-52980600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr13:52979600-52980600	Bivalent Enhancer	Fetal Heart	heart
45	chr13:52979600-52980800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
46	chr13:52979600-52980800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr13:52979600-52980800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr13:52979600-52980800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:52979600-52980800	Flanking Active TSS	Liver	Liver
50	chr13:52979600-52980800	Active TSS	Brain Cingulate Gyrus	brain

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