Variant report

Variant	esv3406568
Chromosome Location	chr2:180049407-180051780
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	chr2:180045016..180046890-chr2:180047637..180050152,2	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543764012	chr2:180049412-180049413	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563553747	chr2:180049429-180049430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74960631	chr2:180049503-180049504	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140554007	chr2:180049517-180049518	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143602763	chr2:180049584-180049585	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147751582	chr2:180049585-180049586	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370949059	chr2:180049586-180049587	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200618836	chr2:180049587-180049588	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201634008	chr2:180049588-180049589	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200181895	chr2:180049589-180049590	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150049095	chr2:180049735-180049736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147743951	chr2:180049760-180049761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564373304	chr2:180049784-180049785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533099222	chr2:180049785-180049786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369343974	chr2:180049824-180049825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184041685	chr2:180049833-180049834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2166534	chr2:180049836-180049837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188333137	chr2:180049893-180049894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72951287	chr2:180049915-180049916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72951291	chr2:180049929-180049930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7598995	chr2:180049936-180049937	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs181055715	chr2:180049937-180049938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12693177	chr2:180049999-180050000	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs13003682	chr2:180050002-180050003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201661672	chr2:180050117-180050118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558083243	chr2:180050122-180050123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578175149	chr2:180050148-180050149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537347423	chr2:180050149-180050150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142664244	chr2:180050208-180050209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185906832	chr2:180050250-180050251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542641394	chr2:180050269-180050270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571928418	chr2:180050279-180050280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553035254	chr2:180050287-180050288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146926525	chr2:180050312-180050313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527994627	chr2:180050354-180050355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192430346	chr2:180050379-180050380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564130830	chr2:180050380-180050381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9752316	chr2:180050383-180050384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182000859	chr2:180050404-180050405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111215193	chr2:180050443-180050444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116260119	chr2:180050449-180050450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10610118	chr2:180050457-180050458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373603100	chr2:180050460-180050461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375623753	chr2:180050461-180050462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs341960	chr2:180050472-180050473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367739059	chr2:180050473-180050474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543345669	chr2:180050482-180050483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563623819	chr2:180050499-180050500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12328184	chr2:180050511-180050512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549031538	chr2:180050517-180050518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179980000-180056800	Weak transcription	HSMM	muscle
2	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
3	chr2:180005800-180053600	Weak transcription	Primary T cells from cord blood	blood
4	chr2:180006600-180051000	Weak transcription	HUVEC	blood vessel
5	chr2:180006800-180054600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:180015000-180054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:180015000-180056000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:180015000-180060600	Weak transcription	Lung	lung
9	chr2:180015400-180049800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:180015400-180058000	Weak transcription	Fetal Stomach	stomach
11	chr2:180015400-180060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:180016000-180054200	Weak transcription	NHDF-Ad	bronchial
13	chr2:180016200-180054000	Weak transcription	Osteobl	bone
14	chr2:180023000-180052800	Weak transcription	Fetal Heart	heart
15	chr2:180030400-180055400	Weak transcription	Thymus	Thymus
16	chr2:180030800-180050800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:180031200-180052000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:180031400-180050000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:180032200-180050800	Weak transcription	NHEK	skin
20	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:180033000-180049600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:180036600-180051800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:180036600-180053200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:180037600-180058800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:180040800-180051000	Weak transcription	Fetal Intestine Large	intestine
26	chr2:180041000-180051000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:180041000-180054800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:180041000-180057000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:180041200-180051000	Weak transcription	HMEC	breast
30	chr2:180041200-180053200	Weak transcription	Brain Anterior Caudate	brain
31	chr2:180041200-180056000	Weak transcription	Fetal Thymus	thymus
32	chr2:180041200-180058800	Weak transcription	Left Ventricle	heart
33	chr2:180041200-180058800	Weak transcription	Ovary	ovary
34	chr2:180043000-180053200	Weak transcription	Brain Substantia Nigra	brain
35	chr2:180043200-180055200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:180043400-180052600	Weak transcription	Brain Angular Gyrus	brain
37	chr2:180043600-180058800	Weak transcription	Gastric	stomach
38	chr2:180044600-180054800	Weak transcription	Fetal Lung	lung
39	chr2:180045000-180054800	Weak transcription	Fetal Kidney	kidney
40	chr2:180045800-180051600	Weak transcription	Primary B cells from cord blood	blood
41	chr2:180046000-180054200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:180046000-180057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:180046200-180053200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:180046200-180053400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:180046200-180054400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:180046200-180054600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:180046400-180050000	Weak transcription	Liver	Liver
48	chr2:180046400-180051800	Weak transcription	Dnd41	blood
49	chr2:180046400-180053200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:180046400-180053600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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