Variant report

Variant	nsv819063
Chromosome Location	chr2:182400950-182401312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201311445	chr2:182400962-182400963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199523281	chr2:182400965-182400966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200427345	chr2:182400966-182400967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201428082	chr2:182400971-182400972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199623665	chr2:182400993-182400994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566810639	chr2:182401006-182401007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200653129	chr2:182401017-182401018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202084901	chr2:182401019-182401020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199720749	chr2:182401020-182401021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200861074	chr2:182401021-182401022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73026489	chr2:182401037-182401038	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs199913623	chr2:182401069-182401070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201014253	chr2:182401099-182401100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552322806	chr2:182401107-182401108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200526606	chr2:182401109-182401110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397804490	chr2:182401115-182401116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10490691	chr2:182401116-182401117	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs201003774	chr2:182401120-182401121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202097311	chr2:182401132-182401133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200513347	chr2:182401141-182401142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201096103	chr2:182401165-182401166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202049560	chr2:182401175-182401176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200205452	chr2:182401180-182401181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201544814	chr2:182401195-182401196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202104512	chr2:182401223-182401224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554318258	chr2:182401232-182401233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200445755	chr2:182401240-182401241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140533145	chr2:182401246-182401247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533515235	chr2:182401248-182401249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541659665	chr2:182401254-182401255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200681683	chr2:182401264-182401265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201185374	chr2:182401269-182401270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199687597	chr2:182401270-182401271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs66677119	chr2:182401271-182401272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386391998	chr2:182401273-182401274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200506735	chr2:182401285-182401286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59627849	chr2:182401288-182401289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202088115	chr2:182401289-182401290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553835634	chr2:182401291-182401292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200116666	chr2:182401303-182401304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200865284	chr2:182401304-182401305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182324400-182410400	Weak transcription	NHLF	lung
2	chr2:182335000-182405800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr2:182338200-182406800	Strong transcription	Fetal Thymus	thymus
4	chr2:182338200-182406800	Weak transcription	Spleen	Spleen
5	chr2:182338600-182405600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:182339400-182405600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:182349600-182405800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:182353800-182404200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:182356000-182406800	Strong transcription	Primary B cells from cord blood	blood
10	chr2:182358200-182405800	Strong transcription	Primary hematopoietic stem cells	blood
11	chr2:182382600-182405600	Strong transcription	Dnd41	blood
12	chr2:182382800-182406200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:182383000-182404600	Weak transcription	Esophagus	oesophagus
14	chr2:182383000-182405800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr2:182383000-182406000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:182383400-182404600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:182383600-182405600	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:182383600-182405600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:182384200-182406000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:182384200-182406400	Strong transcription	Primary T cells from cord blood	blood
21	chr2:182386000-182404600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:182386200-182402800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:182387000-182403400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:182389200-182410200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:182389200-182410200	Weak transcription	HMEC	breast
26	chr2:182390000-182404800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:182391000-182404800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:182392600-182410200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:182394000-182404200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:182395600-182404800	Weak transcription	Small Intestine	intestine
31	chr2:182396200-182410400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:182396600-182401000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:182397000-182404800	Weak transcription	Fetal Intestine Large	intestine
34	chr2:182397600-182404600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:182397800-182406200	Strong transcription	GM12878-XiMat	blood
36	chr2:182398000-182401000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:182398000-182401400	Strong transcription	NHDF-Ad	bronchial
38	chr2:182398000-182403600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:182398000-182403800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:182398400-182403200	Strong transcription	HSMMtube	muscle
41	chr2:182398400-182404200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:182398800-182405600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:182399200-182401000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:182399200-182401600	Strong transcription	HSMM	muscle
45	chr2:182399400-182401600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:182399400-182401600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:182399400-182401600	Weak transcription	Thymus	Thymus
48	chr2:182400400-182404200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:182400600-182411000	Weak transcription	NH-A	brain
50	chr2:182401000-182401400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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