Variant report

Variant	rs520447
Chromosome Location	chr5:106791672-106791673
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	chr5:106791385..106793644-chr5:106796602..106798149,2	K562	blood:
2	chr5:106673737..106675745-chr5:106790045..106792526,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10071180	1.00[MEX][hapmap]
rs194018	1.00[ASW][hapmap];0.89[LWK][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs634535	0.83[YRI][hapmap]
rs9328005	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv462379	chr5:106789764-106806438	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv471037	chr5:106789764-106806438	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv599334	chr5:106789764-106806438	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs520447	STK17B	trans	lymphoblastoid	seeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106788600-106791800	Weak transcription	Fetal Thymus	thymus
2	chr5:106789200-106793000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:106789200-106793000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:106789600-106792000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:106789600-106792400	Weak transcription	Esophagus	oesophagus
6	chr5:106789600-106793200	Enhancers	HMEC	breast
7	chr5:106789600-106800000	Weak transcription	Aorta	Aorta
8	chr5:106790400-106792200	Enhancers	HSMM	muscle
9	chr5:106790400-106792200	Enhancers	NHEK	skin
10	chr5:106790400-106792400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:106790400-106792600	Enhancers	Fetal Lung	lung
12	chr5:106790400-106793200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:106790400-106793200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:106790600-106791800	Enhancers	NHLF	lung
15	chr5:106790600-106792200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:106790600-106792200	Enhancers	NHDF-Ad	bronchial
17	chr5:106790600-106792400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:106790600-106792600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:106790600-106792600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:106790600-106792600	Enhancers	Placenta	Placenta
21	chr5:106790600-106792800	Enhancers	Fetal Kidney	kidney
22	chr5:106790600-106793000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:106790600-106793200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:106790600-106793200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:106790600-106793200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr5:106790600-106793200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:106790600-106793200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr5:106790600-106793800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:106790600-106793800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:106790600-106793800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:106790600-106794000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:106790600-106794000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr5:106790600-106794000	Enhancers	GM12878-XiMat	blood
34	chr5:106790600-106794400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:106790800-106791800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr5:106790800-106791800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:106790800-106791800	Weak transcription	Fetal Stomach	stomach
38	chr5:106790800-106792400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:106790800-106792600	Enhancers	HSMMtube	muscle
40	chr5:106790800-106792800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:106790800-106792800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:106790800-106793000	Enhancers	Stomach Mucosa	stomach
43	chr5:106790800-106795400	Weak transcription	Right Ventricle	heart
44	chr5:106791000-106792600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:106791000-106792800	Enhancers	Adipose Nuclei	Adipose
46	chr5:106791000-106793000	Enhancers	Fetal Heart	heart
47	chr5:106791000-106801400	Weak transcription	Right Atrium	heart
48	chr5:106791200-106792000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr5:106791200-106792600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:106791400-106793200	Enhancers	Dnd41	blood

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