Variant report

Variant	rs73125254
Chromosome Location	chr5:74348132-74348133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs60223842	1.00[ASN][1000 genomes]
rs61207691	1.00[ASN][1000 genomes]
rs73122601	1.00[ASN][1000 genomes]
rs73125245	1.00[ASN][1000 genomes]
rs73125255	0.94[AMR][1000 genomes]
rs7730062	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv1835096	chr5:74336883-74356857	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv598654	chr5:74345369-74351228	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv3421723	chr5:74346596-74351294	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	esv3439111	chr5:74348021-74350569	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74337600-74348200	Weak transcription	Left Ventricle	heart
2	chr5:74344800-74348400	Enhancers	Spleen	Spleen
3	chr5:74345600-74348400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr5:74345800-74348400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr5:74346000-74350200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr5:74346400-74350400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr5:74346800-74348200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr5:74347000-74348200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr5:74347000-74348400	Bivalent/Poised TSS	Fetal Kidney	kidney
10	chr5:74347000-74348400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr5:74347000-74350000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:74347000-74350000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:74347000-74350200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:74347000-74350800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr5:74347200-74348800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:74347200-74348800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:74347400-74348200	Enhancers	Liver	Liver
18	chr5:74347400-74348400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr5:74347400-74348400	Flanking Active TSS	HMEC	breast
20	chr5:74347400-74348600	Bivalent/Poised TSS	Fetal Stomach	stomach
21	chr5:74347400-74349800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:74347400-74350000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:74347400-74350000	Active TSS	Brain Anterior Caudate	brain
24	chr5:74347400-74350200	Active TSS	Pancreas	Pancrea
25	chr5:74347400-74350200	Active TSS	Stomach Mucosa	stomach
26	chr5:74347400-74350200	Active TSS	NHDF-Ad	bronchial
27	chr5:74347400-74350400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr5:74347400-74350400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:74347400-74350400	Active TSS	Gastric	stomach
30	chr5:74347600-74348200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:74347600-74348200	Weak transcription	Esophagus	oesophagus
32	chr5:74347600-74348200	Bivalent Enhancer	Fetal Heart	heart
33	chr5:74347600-74348200	Weak transcription	Lung	lung
34	chr5:74347600-74348200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr5:74347600-74348400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:74347600-74348400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:74347600-74348400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:74347600-74348400	Flanking Active TSS	NHEK	skin
39	chr5:74347600-74349800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
40	chr5:74347600-74349800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:74347600-74349800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr5:74347600-74349800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:74347600-74349800	Active TSS	Fetal Thymus	thymus
44	chr5:74347600-74349800	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr5:74347600-74349800	Active TSS	Thymus	Thymus
46	chr5:74347600-74350000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:74347600-74350000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:74347600-74350000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:74347600-74350000	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr5:74347600-74350000	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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