Variant report

Variant	rs72780283
Chromosome Location	chr5:126191464-126191465
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10478756	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165305	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55637078	1.00[ASN][1000 genomes]
rs55784400	1.00[ASN][1000 genomes]
rs72780284	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3359230	chr5:126189278-126191826	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126148200-126193200	Weak transcription	Brain Angular Gyrus	brain
2	chr5:126158000-126204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:126163800-126193200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:126182400-126192600	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:126182600-126193000	Weak transcription	Right Ventricle	heart
6	chr5:126183600-126210400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:126183800-126193000	Weak transcription	Fetal Lung	lung
8	chr5:126183800-126193400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:126184400-126193000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:126184400-126193200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:126184400-126193600	Weak transcription	Brain Germinal Matrix	brain
12	chr5:126184600-126193000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:126187600-126192600	Weak transcription	Left Ventricle	heart
14	chr5:126187800-126192800	Weak transcription	Fetal Heart	heart
15	chr5:126188000-126193400	Weak transcription	Fetal Kidney	kidney
16	chr5:126188200-126193200	Weak transcription	Brain Anterior Caudate	brain
17	chr5:126188200-126193600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:126188200-126200800	Weak transcription	NHDF-Ad	bronchial
19	chr5:126188200-126203400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:126188400-126193000	Weak transcription	Osteobl	bone
21	chr5:126188400-126193200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:126188600-126193200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:126188600-126193200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:126188600-126204400	Weak transcription	NH-A	brain
25	chr5:126188800-126191800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:126188800-126192600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:126188800-126193400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:126188800-126204600	Weak transcription	NHLF	lung
29	chr5:126189000-126192600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:126189000-126192600	Weak transcription	Adipose Nuclei	Adipose
31	chr5:126189000-126193000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:126189000-126193200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:126189000-126193200	Weak transcription	HSMMtube	muscle
34	chr5:126189000-126193600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:126189000-126193800	Weak transcription	Lung	lung
36	chr5:126189400-126193200	Weak transcription	Fetal Brain Male	brain
37	chr5:126189400-126193200	Weak transcription	Fetal Brain Female	brain
38	chr5:126189400-126202600	Weak transcription	Right Atrium	heart
39	chr5:126189800-126191600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr5:126189800-126201000	Weak transcription	A549	lung
41	chr5:126190000-126203800	Weak transcription	Fetal Thymus	thymus
42	chr5:126190400-126191600	Enhancers	Primary T cells from cord blood	blood
43	chr5:126190400-126191600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr5:126190400-126193400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:126190400-126193600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr5:126190400-126204400	Weak transcription	Primary B cells from cord blood	blood
47	chr5:126190800-126191600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr5:126190800-126191600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:126190800-126191600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr5:126190800-126191600	Strong transcription	Dnd41	blood

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