Variant report

Variant	rs17084451
Chromosome Location	chr4:55408849-55408850
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	chr4:55401483..55406953-chr4:55407343..55411462,6	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10017829	1.00[EUR][1000 genomes]
rs11936787	1.00[EUR][1000 genomes]
rs17084432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17084439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1876481	1.00[EUR][1000 genomes]
rs218274	1.00[EUR][1000 genomes]
rs218275	1.00[EUR][1000 genomes]
rs218276	1.00[EUR][1000 genomes]
rs218277	1.00[EUR][1000 genomes]
rs28415087	1.00[EUR][1000 genomes]
rs28513544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28548789	1.00[EUR][1000 genomes]
rs28753670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35111648	1.00[EUR][1000 genomes]
rs6815523	1.00[EUR][1000 genomes]
rs6841662	1.00[EUR][1000 genomes]
rs73155490	1.00[EUR][1000 genomes]
rs73157485	1.00[EUR][1000 genomes]
rs73159412	1.00[EUR][1000 genomes]
rs7675121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs973924	1.00[EUR][1000 genomes]
rs9995779	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55406200-55409200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:55406200-55410000	Enhancers	Osteobl	bone
3	chr4:55406200-55410200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:55406200-55410600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:55406200-55410800	Enhancers	Primary hematopoietic stem cells	blood
6	chr4:55406200-55411400	Weak transcription	HMEC	breast
7	chr4:55406200-55413800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:55406200-55416000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:55406200-55434200	Weak transcription	Right Atrium	heart
10	chr4:55406400-55409200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:55406400-55409400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:55406400-55409400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:55406400-55410200	Enhancers	NH-A	brain
14	chr4:55406400-55411200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:55406400-55411600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:55406400-55412200	Weak transcription	Esophagus	oesophagus
17	chr4:55406400-55412200	Weak transcription	Stomach Mucosa	stomach
18	chr4:55406400-55413600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:55406400-55413600	Weak transcription	Fetal Stomach	stomach
20	chr4:55406400-55420600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:55406600-55409600	Enhancers	NHDF-Ad	bronchial
22	chr4:55407000-55409000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:55407000-55409200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:55407000-55409200	Enhancers	NHLF	lung
25	chr4:55407000-55409800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:55407000-55411800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:55407200-55409000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:55407200-55410400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:55407400-55410400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:55407600-55409000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:55407600-55409200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:55407600-55409600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr4:55407800-55409000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr4:55407800-55409000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:55408000-55409000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:55408000-55413600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:55408000-55413800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:55408200-55413600	Weak transcription	Placenta	Placenta
39	chr4:55408400-55409000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:55408400-55409600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr4:55408600-55409000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:55408600-55409000	Flanking Active TSS	K562	blood
43	chr4:55408800-55409000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:55408800-55409000	Enhancers	Ovary	ovary
45	chr4:55408800-55409400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:55408800-55411400	Weak transcription	NHEK	skin
47	chr4:55408800-55413800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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