Variant report

Variant	rs7729354
Chromosome Location	chr5:126887706-126887707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17211634	1.00[ASN][1000 genomes]
rs17790773	1.00[ASN][1000 genomes]
rs56300242	1.00[ASN][1000 genomes]
rs72790490	0.90[EUR][1000 genomes]
rs72792006	1.00[ASN][1000 genomes]
rs72792033	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792038	0.93[EUR][1000 genomes]
rs72792042	1.00[ASN][1000 genomes]
rs73783928	1.00[ASN][1000 genomes]
rs7718377	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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr5:126860600-126889400	Weak transcription	Esophagus	oesophagus
2	chr5:126870600-126898000	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:126871000-126892800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:126871200-126889400	Weak transcription	Aorta	Aorta
5	chr5:126871200-126889400	Weak transcription	Gastric	stomach
6	chr5:126871200-126889400	Weak transcription	Pancreas	Pancrea
7	chr5:126871200-126889400	Weak transcription	Spleen	Spleen
8	chr5:126871200-126896800	Weak transcription	Colonic Mucosa	Colon
9	chr5:126871400-126891600	Weak transcription	Right Ventricle	heart
10	chr5:126871600-126888000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:126871600-126889000	Weak transcription	Small Intestine	intestine
12	chr5:126871800-126901400	Weak transcription	Brain Substantia Nigra	brain
13	chr5:126875600-126889000	Weak transcription	NHEK	skin
14	chr5:126875800-126889600	Weak transcription	Psoas Muscle	Psoas
15	chr5:126876000-126891400	Weak transcription	Fetal Heart	heart
16	chr5:126876000-126898000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:126876400-126888000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:126876400-126891200	Weak transcription	Fetal Brain Male	brain
19	chr5:126876400-126891400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr5:126876400-126897200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr5:126876400-126898200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:126876600-126893200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr5:126876800-126896600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:126880000-126891400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:126880600-126888000	Weak transcription	Brain Germinal Matrix	brain
26	chr5:126880600-126889400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:126880600-126891600	Weak transcription	Ovary	ovary
28	chr5:126880800-126888800	Weak transcription	Left Ventricle	heart
29	chr5:126880800-126889400	Weak transcription	Thymus	Thymus
30	chr5:126880800-126889800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:126880800-126891400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:126881000-126895000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:126881400-126890000	Strong transcription	Primary T cells from cord blood	blood
34	chr5:126881400-126894600	Strong transcription	HSMM	muscle
35	chr5:126881600-126890000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:126881600-126890400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:126881600-126891200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:126881600-126891400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:126881600-126891400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr5:126881600-126891400	Strong transcription	NH-A	brain
41	chr5:126881800-126891000	Strong transcription	Dnd41	blood
42	chr5:126881800-126891600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr5:126882000-126891200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:126882200-126888800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:126882200-126891200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:126882400-126889600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:126882400-126896000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:126882400-126897600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr5:126883000-126888800	Strong transcription	HepG2	liver
50	chr5:126883000-126890400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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