Variant report

Variant	rs72791831
Chromosome Location	chr5:106892016-106892017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:106878075..106880996-chr5:106890627..106894007,3	MCF-7	breast:
2	chr5:106891290..106894903-chr5:107005448..107008680,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184349	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11950725	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957374	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs163888	1.00[ASN][1000 genomes]
rs17160159	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17414033	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1966892	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1966893	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55837064	0.95[ASN][1000 genomes]
rs56195302	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6882355	0.95[ASN][1000 genomes]
rs6883713	0.95[ASN][1000 genomes]
rs6884705	0.95[ASN][1000 genomes]
rs712560	0.95[ASN][1000 genomes]
rs72789671	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72791834	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7443170	0.92[EUR][1000 genomes];0.81[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	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106879000-106893000	Weak transcription	Psoas Muscle	Psoas
2	chr5:106879000-106899200	Weak transcription	Fetal Stomach	stomach
3	chr5:106881600-106899600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:106884600-106896400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:106885400-106892600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:106885600-106892800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:106885600-106893000	Weak transcription	Esophagus	oesophagus
8	chr5:106885600-106893200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:106885600-106894800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:106885600-106896400	Weak transcription	Right Atrium	heart
11	chr5:106887200-106899400	Weak transcription	Fetal Lung	lung
12	chr5:106887200-106906800	Weak transcription	Right Ventricle	heart
13	chr5:106889200-106892800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:106889200-106892800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:106889200-106892800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:106889400-106892600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:106889400-106892600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:106889400-106892600	Enhancers	A549	lung
19	chr5:106889400-106892800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:106889400-106892800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:106889400-106893000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:106889400-106903000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:106889600-106892200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:106889600-106892600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:106889600-106892600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:106890000-106892800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:106890000-106895000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:106890000-106895000	Enhancers	NHEK	skin
29	chr5:106890000-106898000	Enhancers	Fetal Heart	heart
30	chr5:106890200-106893600	Enhancers	HSMM	muscle
31	chr5:106890200-106900800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:106890400-106893200	Enhancers	Placenta	Placenta
33	chr5:106890400-106893400	Enhancers	Osteobl	bone
34	chr5:106890400-106893600	Enhancers	NH-A	brain
35	chr5:106890400-106893800	Enhancers	NHDF-Ad	bronchial
36	chr5:106890400-106894000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:106890400-106894800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:106890400-106895000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:106890600-106893000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:106890600-106893400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:106890800-106892600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:106891000-106892600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:106891000-106892800	Weak transcription	Left Ventricle	heart
44	chr5:106891000-106899800	Weak transcription	Aorta	Aorta
45	chr5:106891200-106892800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:106891200-106892800	Weak transcription	GM12878-XiMat	blood
47	chr5:106891200-106892800	Weak transcription	HSMMtube	muscle
48	chr5:106891200-106893800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr5:106891200-106893800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:106891400-106893200	Weak transcription	Fetal Kidney	kidney

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