Variant report

Variant	esv3448509
Chromosome Location	chr1:192036673-192037019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192034403..192037383-chr1:192038504..192041693,3	K562	blood:
2	chr1:192029904..192031984-chr1:192035532..192038084,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 89 )

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	rs139051256	chr1:192036684-192036685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536177453	chr1:192036685-192036686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3012188	chr1:192036732-192036733	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566301739	chr1:192036755-192036756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556980777	chr1:192036820-192036821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35804855	chr1:192036824-192036825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551402474	chr1:192036884-192036885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34112191	chr1:192036885-192036886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202157704	chr1:192036896-192036897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567914436	chr1:192036898-192036899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570967940	chr1:192036927-192036928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371115931	chr1:192036950-192036951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192545957	chr1:192036971-192036972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192033800-192037200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:192036400-192036800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr1:192036400-192036800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:192036400-192036800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:192036400-192036800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:192036400-192036800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:192036400-192036800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:192036400-192036800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:192036400-192036800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:192036400-192036800	Enhancers	Dnd41	blood
11	chr1:192036400-192037000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:192036400-192037000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:192036400-192037200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:192036800-192039000	Weak transcription	Dnd41	blood
15	chr1:192037000-192037600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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