Variant report

Variant	rs13167001
Chromosome Location	chr5:17280089-17280090
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: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35035907	0.93[AFR][1000 genomes]
rs4702205	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[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	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17269800-17280800	Weak transcription	Fetal Kidney	kidney
2	chr5:17274600-17282600	Weak transcription	Fetal Brain Male	brain
3	chr5:17275400-17282000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:17276000-17281400	Weak transcription	Aorta	Aorta
5	chr5:17276400-17282000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:17276400-17282400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:17276400-17283200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:17276600-17282200	Weak transcription	HSMMtube	muscle
9	chr5:17276600-17282400	Enhancers	Primary B cells from cord blood	blood
10	chr5:17276600-17282400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:17276600-17282600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:17276600-17282600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:17276600-17282600	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:17276600-17283800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:17276600-17285400	Enhancers	Primary B cells from peripheral blood	blood
16	chr5:17276800-17280400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:17276800-17281200	Weak transcription	Placenta	Placenta
18	chr5:17276800-17282800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:17277000-17282200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:17277000-17282200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr5:17277200-17282200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:17277400-17282400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr5:17277800-17280600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:17277800-17282200	Weak transcription	Fetal Brain Female	brain
25	chr5:17277800-17282400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr5:17277800-17284800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:17277800-17290600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:17278000-17280600	Weak transcription	Brain Germinal Matrix	brain
29	chr5:17278000-17282000	Weak transcription	Osteobl	bone
30	chr5:17278000-17282400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:17278000-17282400	Weak transcription	NHEK	skin
32	chr5:17278000-17287400	Weak transcription	Hela-S3	cervix
33	chr5:17278200-17282200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr5:17278200-17282400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:17278400-17282000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:17278400-17282200	Weak transcription	NH-A	brain
37	chr5:17279000-17282200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:17279200-17280800	Weak transcription	HSMM	muscle
39	chr5:17279200-17282400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:17279200-17282400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:17279400-17280200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:17279400-17281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:17279400-17282400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:17279400-17284600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:17279600-17282200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr5:17279600-17282400	Weak transcription	NHLF	lung
47	chr5:17279800-17281400	Enhancers	A549	lung
48	chr5:17279800-17282200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:17279800-17282400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr5:17280000-17281000	Weak transcription	GM12878-XiMat	blood

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