Variant report

Variant	rs11919567
Chromosome Location	chr3:53298596-53298597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53288022..53293175-chr3:53295938..53300780,7	MCF-7	breast:
2	chr3:53296022..53298789-chr3:53302233..53304296,2	K562	blood:

Variant related genes	Relation type
ENSG00000163931	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11915147	0.96[ASN][1000 genomes]
rs11920772	1.00[AMR][1000 genomes]
rs11925433	1.00[AMR][1000 genomes]
rs12488901	0.96[ASN][1000 genomes]
rs12491594	0.88[ASN][1000 genomes]
rs12492129	0.96[ASN][1000 genomes]
rs12496449	0.96[ASN][1000 genomes]
rs12496915	0.96[ASN][1000 genomes]
rs17030942	1.00[AMR][1000 genomes]
rs17052997	1.00[AMR][1000 genomes]
rs2128710	0.96[ASN][1000 genomes]
rs58338691	1.00[AMR][1000 genomes]
rs60350276	1.00[AMR][1000 genomes]
rs61299945	1.00[AMR][1000 genomes]
rs6787817	1.00[AMR][1000 genomes]
rs68140464	1.00[AMR][1000 genomes]
rs72954817	1.00[AMR][1000 genomes]
rs72954820	1.00[AMR][1000 genomes]
rs72954825	1.00[AMR][1000 genomes]
rs72954827	1.00[AMR][1000 genomes]
rs72954837	1.00[AMR][1000 genomes]
rs72957594	1.00[AMR][1000 genomes]
rs73843118	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53294000-53303600	Weak transcription	HSMMtube	muscle
2	chr3:53294200-53298600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:53294200-53298600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:53294200-53298800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:53294200-53299200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:53294200-53300000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:53294200-53303600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:53294200-53303800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:53294400-53298600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:53294400-53298800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:53294400-53300200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:53294600-53298800	Weak transcription	Brain Anterior Caudate	brain
13	chr3:53294600-53298800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:53294600-53300200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:53294600-53302000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:53294600-53303400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:53294600-53303400	Weak transcription	Brain Substantia Nigra	brain
18	chr3:53294600-53303600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:53294600-53303600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:53294600-53304000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:53294600-53304200	Weak transcription	Lung	lung
22	chr3:53294800-53304000	Weak transcription	Psoas Muscle	Psoas
23	chr3:53295000-53298600	Weak transcription	Fetal Heart	heart
24	chr3:53295000-53298600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:53296000-53298800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:53296000-53298800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:53296000-53299600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:53296000-53303600	Weak transcription	Gastric	stomach
29	chr3:53296000-53303800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr3:53296200-53298800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:53296200-53299000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr3:53296200-53299000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:53296200-53302200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:53296200-53303000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:53296200-53303600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:53296200-53303600	Weak transcription	Esophagus	oesophagus
37	chr3:53296200-53303600	Weak transcription	NHDF-Ad	bronchial
38	chr3:53296200-53304000	Weak transcription	Right Atrium	heart
39	chr3:53296600-53298600	Weak transcription	Adipose Nuclei	Adipose
40	chr3:53296600-53302000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr3:53297000-53302000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr3:53297200-53301800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr3:53297400-53298600	Weak transcription	NHEK	skin
44	chr3:53297400-53302000	Weak transcription	HMEC	breast
45	chr3:53298000-53299600	Enhancers	HepG2	liver
46	chr3:53298000-53300600	Enhancers	A549	lung
47	chr3:53298000-53301400	Enhancers	Stomach Mucosa	stomach
48	chr3:53298200-53300600	Enhancers	Hela-S3	cervix
49	chr3:53298400-53298800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr3:53298400-53299200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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