Variant report

Variant	rs59692383
Chromosome Location	chr17:17567757-17567758
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17566953..17570560-chr17:17583425..17585790,3	K562	blood:
2	chr17:17566041..17569411-chr17:17596920..17599764,3	MCF-7	breast:
3	chr17:17566304..17567837-chr17:17743104..17745974,2	K562	blood:
4	chr17:17564834..17568175-chr17:17574678..17576692,3	MCF-7	breast:
5	chr17:17565443..17568404-chr17:17572179..17574047,2	MCF-7	breast:
6	chr17:17566980..17568682-chr17:17739596..17741450,2	K562	blood:
7	chr17:17565862..17568773-chr17:17588308..17590151,2	K562	blood:

Variant related genes	Relation type
ENSG00000108557	Chromatin interaction
ENSG00000072310	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62064073	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62064074	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62064075	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv907751	chr17:17530554-17581184	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr17:17565800-17568000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:17565800-17568200	Enhancers	Spleen	Spleen
3	chr17:17566000-17568000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr17:17566000-17568000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:17566200-17567800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr17:17566200-17567800	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr17:17566400-17570200	Enhancers	Fetal Stomach	stomach
8	chr17:17566600-17567800	Bivalent Enhancer	Placenta	Placenta
9	chr17:17566600-17572200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr17:17566800-17567800	Weak transcription	Left Ventricle	heart
11	chr17:17567000-17570400	Weak transcription	Pancreas	Pancrea
12	chr17:17567000-17572200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:17567000-17572200	Weak transcription	Fetal Brain Female	brain
14	chr17:17567000-17572200	Weak transcription	Fetal Heart	heart
15	chr17:17567000-17572200	Weak transcription	Gastric	stomach
16	chr17:17567000-17572400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr17:17567000-17573200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:17567200-17568000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:17567200-17568800	Weak transcription	Thymus	Thymus
20	chr17:17567200-17569400	Weak transcription	Esophagus	oesophagus
21	chr17:17567200-17569400	Weak transcription	A549	lung
22	chr17:17567200-17569400	Weak transcription	NHLF	lung
23	chr17:17567200-17569800	Weak transcription	Colonic Mucosa	Colon
24	chr17:17567200-17571000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr17:17567200-17572200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:17567200-17572200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:17567200-17572200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr17:17567200-17572400	Weak transcription	Fetal Brain Male	brain
29	chr17:17567200-17572600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr17:17567200-17572600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr17:17567200-17574400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr17:17567200-17575400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr17:17567200-17579200	Weak transcription	K562	blood
34	chr17:17567400-17567800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr17:17567400-17568400	Enhancers	GM12878-XiMat	blood
36	chr17:17567400-17569400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:17567400-17569400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr17:17567400-17569400	Weak transcription	HMEC	breast
39	chr17:17567400-17569400	Weak transcription	HSMM	muscle
40	chr17:17567400-17569600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr17:17567400-17569600	Weak transcription	HSMMtube	muscle
42	chr17:17567400-17572400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:17567400-17575400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr17:17567600-17568800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr17:17567600-17568800	Weak transcription	Fetal Thymus	thymus
46	chr17:17567600-17568800	Weak transcription	NHEK	skin
47	chr17:17567600-17569400	Weak transcription	NH-A	brain

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