Variant report

Variant	rs59185617
Chromosome Location	chr5:17280859-17280860
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:17279526..17282180-chr5:17283122..17285646,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56774837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57054587	1.00[AMR][1000 genomes]
rs57223110	1.00[AMR][1000 genomes]
rs57684042	1.00[AMR][1000 genomes]
rs58666930	1.00[AMR][1000 genomes]
rs60145551	1.00[AMR][1000 genomes]
rs61326021	1.00[AFR][1000 genomes];1.00[AMR][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	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv830218	chr5:17093162-17290045	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17274600-17282600	Weak transcription	Fetal Brain Male	brain
2	chr5:17275400-17282000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:17276000-17281400	Weak transcription	Aorta	Aorta
4	chr5:17276400-17282000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:17276400-17282400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:17276400-17283200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:17276600-17282200	Weak transcription	HSMMtube	muscle
8	chr5:17276600-17282400	Enhancers	Primary B cells from cord blood	blood
9	chr5:17276600-17282400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:17276600-17282600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:17276600-17282600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:17276600-17282600	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:17276600-17283800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:17276600-17285400	Enhancers	Primary B cells from peripheral blood	blood
15	chr5:17276800-17281200	Weak transcription	Placenta	Placenta
16	chr5:17276800-17282800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:17277000-17282200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:17277000-17282200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:17277200-17282200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:17277400-17282400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:17277800-17282200	Weak transcription	Fetal Brain Female	brain
22	chr5:17277800-17282400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr5:17277800-17284800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:17277800-17290600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:17278000-17282000	Weak transcription	Osteobl	bone
26	chr5:17278000-17282400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:17278000-17282400	Weak transcription	NHEK	skin
28	chr5:17278000-17287400	Weak transcription	Hela-S3	cervix
29	chr5:17278200-17282200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr5:17278200-17282400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:17278400-17282000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:17278400-17282200	Weak transcription	NH-A	brain
33	chr5:17279000-17282200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:17279200-17282400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:17279200-17282400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:17279400-17281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:17279400-17282400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:17279400-17284600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:17279600-17282200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:17279600-17282400	Weak transcription	NHLF	lung
41	chr5:17279800-17281400	Enhancers	A549	lung
42	chr5:17279800-17282200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:17279800-17282400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:17280000-17281000	Weak transcription	GM12878-XiMat	blood
45	chr5:17280000-17282000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr5:17280000-17282200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:17280000-17282200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:17280000-17282800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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