Variant report

Variant	rs17159988
Chromosome Location	chr5:106791817-106791818
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	chr5:106791385..106793644-chr5:106796602..106798149,2	K562	blood:
2	chr5:106673737..106675745-chr5:106790045..106792526,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10038224	1.00[EUR][1000 genomes]
rs10053294	1.00[EUR][1000 genomes]
rs10058412	1.00[EUR][1000 genomes]
rs10068257	1.00[EUR][1000 genomes]
rs10491389	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11956462	1.00[EUR][1000 genomes]
rs11958371	1.00[EUR][1000 genomes]
rs17159819	1.00[EUR][1000 genomes]
rs17159895	1.00[EUR][1000 genomes]
rs17159926	1.00[EUR][1000 genomes]
rs17159963	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159972	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17160270	1.00[MEX][hapmap]
rs2113035	1.00[EUR][1000 genomes]
rs6868291	1.00[EUR][1000 genomes]
rs7729948	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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106789200-106793000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:106789200-106793000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:106789600-106792000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:106789600-106792400	Weak transcription	Esophagus	oesophagus
5	chr5:106789600-106793200	Enhancers	HMEC	breast
6	chr5:106789600-106800000	Weak transcription	Aorta	Aorta
7	chr5:106790400-106792200	Enhancers	HSMM	muscle
8	chr5:106790400-106792200	Enhancers	NHEK	skin
9	chr5:106790400-106792400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:106790400-106792600	Enhancers	Fetal Lung	lung
11	chr5:106790400-106793200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:106790400-106793200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:106790600-106792200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:106790600-106792200	Enhancers	NHDF-Ad	bronchial
15	chr5:106790600-106792400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:106790600-106792600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:106790600-106792600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:106790600-106792600	Enhancers	Placenta	Placenta
19	chr5:106790600-106792800	Enhancers	Fetal Kidney	kidney
20	chr5:106790600-106793000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:106790600-106793200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:106790600-106793200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:106790600-106793200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr5:106790600-106793200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:106790600-106793200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr5:106790600-106793800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:106790600-106793800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:106790600-106793800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:106790600-106794000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:106790600-106794000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:106790600-106794000	Enhancers	GM12878-XiMat	blood
32	chr5:106790600-106794400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:106790800-106792400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:106790800-106792600	Enhancers	HSMMtube	muscle
35	chr5:106790800-106792800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:106790800-106792800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:106790800-106793000	Enhancers	Stomach Mucosa	stomach
38	chr5:106790800-106795400	Weak transcription	Right Ventricle	heart
39	chr5:106791000-106792600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:106791000-106792800	Enhancers	Adipose Nuclei	Adipose
41	chr5:106791000-106793000	Enhancers	Fetal Heart	heart
42	chr5:106791000-106801400	Weak transcription	Right Atrium	heart
43	chr5:106791200-106792000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr5:106791200-106792600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:106791400-106793200	Enhancers	Dnd41	blood
46	chr5:106791400-106794400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:106791600-106792000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr5:106791600-106792000	Enhancers	A549	lung
49	chr5:106791600-106792400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:106791600-106792400	Enhancers	Cortex derived primary cultured neurospheres	brain

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