Variant report

Variant	esv3353762
Chromosome Location	chr17:33873508-33873909
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:33870813..33874326-chr17:33876261..33879859,4	K562	blood:
2	chr17:33867396..33870048-chr17:33873129..33875693,2	K562	blood:
3	chr17:33873594..33876498-chr17:33922530..33925422,2	K562	blood:
4	chr17:33871400..33874882-chr17:33904820..33908176,3	K562	blood:
5	chr17:33872306..33875717-chr17:33876855..33878758,3	K562	blood:
6	chr17:33872353..33876911-chr17:33880011..33884080,5	K562	blood:

Variant related genes	Relation type
ENSG00000267592	chromatin interactions
ENSG00000267035	chromatin interactions
ENSG00000006125	chromatin interactions
ENSG00000108733	chromatin interactions
ENSG00000267359	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372649518	chr17:33873538-33873539	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs545389466	chr17:33873617-33873618	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs555878923	chr17:33873635-33873636	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs188775548	chr17:33873724-33873725	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs191713722	chr17:33873726-33873727	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs561752325	chr17:33873752-33873753	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs7221322	chr17:33873772-33873773	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs183845781	chr17:33873809-33873810	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs9894813	chr17:33873848-33873849	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs532592670	chr17:33873855-33873856	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs373537503	chr17:33873857-33873858	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs188166072	chr17:33873877-33873878	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs562998131	chr17:33873903-33873904	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Melanoma	18172304	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	17603634	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Bladder cancer	19088036	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Meningioma	19431122	CNVD
Neurocytoma	17123091	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Cervical cancer	21062161	CNVD
Colorectal cancer	22860045	CNVD
Ductal carcinoma	18381933	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Renal cysts	20603712	CNVD
Epilepsy	21858020	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Autism	20587423	CNVD
Renal cysts	20587423	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Mayer-Rokitansky-Kuster-Hauser syndrome	19889212	CNVD
Endometrial cancer	23636398	CNVD
Urothelial cell carcinoma	18451213	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	17850661	CNVD
Primary lung adenocarcinoma	16799635	CNVD
HIV/AIDS	18848619	CNVD
Rheumatoid arthritis	19220326	CNVD
Rheumatoid arthritis	18848619	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	18848619	CNVD
Type 1 diabetes	19220326	CNVD
HIV/AIDS	17330138	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Acute monocytic leukemia	16498392	CNVD
Breast cancer	20409316	CNVD
Myelodysplastic syndrome	18663149	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Adrenocortical carcinoma	18281524	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33869800-33877200	Weak transcription	Lung	lung
2	chr17:33870400-33881000	Weak transcription	K562	blood
3	chr17:33870400-33888600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr17:33871600-33873600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:33871600-33873800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr17:33872800-33875000	Weak transcription	Stomach Mucosa	stomach
7	chr17:33873200-33873600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr17:33873200-33873800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr17:33873200-33874000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr17:33873200-33874000	Enhancers	Primary B cells from cord blood	blood
11	chr17:33873200-33874000	Enhancers	Adipose Nuclei	Adipose
12	chr17:33873200-33874200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr17:33873200-33874200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:33873200-33874200	Enhancers	GM12878-XiMat	blood
15	chr17:33873400-33874000	Enhancers	Primary B cells from peripheral blood	blood
16	chr17:33873600-33874000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:33873600-33874200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr17:33873800-33874000	Enhancers	Primary hematopoietic stem cells	blood
19	chr17:33873800-33879800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links