Variant report

Variant	esv17936
Chromosome Location	chr1:169112379-169112882
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	chr1:169099064..169101885-chr1:169111160..169113548,2	K562	blood:
2	chr1:169108245..169110163-chr1:169111975..169114283,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10081959	chr1:169112395-169112396	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10081960	chr1:169112399-169112400	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs538899488	chr1:169112446-169112447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140101047	chr1:169112483-169112484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12724494	chr1:169112504-169112505	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs199682943	chr1:169112512-169112513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71299493	chr1:169112529-169112530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374300068	chr1:169112537-169112538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536389971	chr1:169112580-169112581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567363419	chr1:169112603-169112604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12691502	chr1:169112631-169112632	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs35207260	chr1:169112668-169112669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs72706975	chr1:169112694-169112695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs12728466	chr1:169112703-169112704	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs188237282	chr1:169112704-169112705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371982503	chr1:169112731-169112732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569769268	chr1:169112818-169112819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192568649	chr1:169112845-169112846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12752748	chr1:169112856-169112857	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169091200-169124600	Weak transcription	NHLF	lung
2	chr1:169091600-169120400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:169091600-169120600	Weak transcription	Lung	lung
4	chr1:169091800-169137600	Weak transcription	Esophagus	oesophagus
5	chr1:169095000-169112600	Weak transcription	Stomach Mucosa	stomach
6	chr1:169096600-169137400	Weak transcription	Fetal Stomach	stomach
7	chr1:169097000-169130000	Weak transcription	Ovary	ovary
8	chr1:169100800-169115000	Weak transcription	Small Intestine	intestine
9	chr1:169100800-169116200	Weak transcription	Fetal Kidney	kidney
10	chr1:169100800-169141400	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:169101000-169113800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:169101000-169137000	Weak transcription	Primary T cells from cord blood	blood
13	chr1:169101200-169113800	Weak transcription	Brain Germinal Matrix	brain
14	chr1:169102000-169117400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:169102400-169120600	Weak transcription	Left Ventricle	heart
16	chr1:169102800-169112600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:169102800-169114800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:169103200-169116000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:169103200-169116000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:169103200-169117200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:169103200-169117400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:169103400-169130200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:169103600-169114000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:169104200-169117400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:169104800-169120400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:169104800-169142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:169105600-169113800	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:169110400-169114800	Enhancers	Fetal Intestine Large	intestine
29	chr1:169110400-169121800	Enhancers	Fetal Intestine Small	intestine
30	chr1:169110600-169114400	Enhancers	Duodenum Mucosa	Duodenum
31	chr1:169110800-169112400	Weak transcription	A549	lung
32	chr1:169111200-169113800	Enhancers	Liver	Liver
33	chr1:169111800-169113400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:169111800-169113800	Enhancers	HepG2	liver
35	chr1:169112000-169112800	Enhancers	Psoas Muscle	Psoas
36	chr1:169112200-169112400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:169112200-169112400	Enhancers	HSMM	muscle
38	chr1:169112400-169113600	Enhancers	A549	lung
39	chr1:169112600-169112800	Weak transcription	Brain Angular Gyrus	brain
40	chr1:169112600-169112800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr1:169112600-169112800	Enhancers	K562	blood
42	chr1:169112600-169114200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:169112600-169118400	Enhancers	Stomach Mucosa	stomach
44	chr1:169112800-169113000	Enhancers	Brain Angular Gyrus	brain
45	chr1:169112800-169114400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:169112800-169120600	Weak transcription	Psoas Muscle	Psoas

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