Variant report

Variant	nsv821858
Chromosome Location	chr2:189733808-189740029
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	chr2:189733529..189735881-chr2:189735905..189738655,2	MCF-7	breast:
2	chr2:189733529..189735881-chr2:189735905..189738655,2	MCF-7	breast:

Extended variants
information (count: 248 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530543920	chr2:189733817-189733818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145012099	chr2:189733836-189733837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570362013	chr2:189733860-189733861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200012828	chr2:189733876-189733877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116066090	chr2:189733886-189733887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541896167	chr2:189733914-189733915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560249765	chr2:189733942-189733943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185990105	chr2:189733960-189733961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568238326	chr2:189733967-189733968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560914933	chr2:189733999-189734000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527804559	chr2:189734000-189734001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370663513	chr2:189734037-189734038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191486334	chr2:189734144-189734145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34558046	chr2:189734187-189734188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537549790	chr2:189734205-189734206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558942183	chr2:189734287-189734288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577214433	chr2:189734330-189734331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541700487	chr2:189734348-189734349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552263063	chr2:189734375-189734376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114774450	chr2:189734376-189734377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148651274	chr2:189734481-189734482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541992222	chr2:189734507-189734508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563556479	chr2:189734552-189734553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116578601	chr2:189734573-189734574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545496734	chr2:189734581-189734582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114353857	chr2:189734686-189734687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181131348	chr2:189734710-189734711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546859124	chr2:189734742-189734743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561864321	chr2:189734780-189734781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529218396	chr2:189734782-189734783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532055704	chr2:189734801-189734802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550752210	chr2:189734804-189734805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569073990	chr2:189734812-189734813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537535725	chr2:189734895-189734896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186098816	chr2:189734931-189734932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370611733	chr2:189734937-189734938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564510477	chr2:189734939-189734940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142352895	chr2:189735040-189735041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534736309	chr2:189735044-189735045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553351850	chr2:189735047-189735048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79654829	chr2:189735048-189735049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13415010	chr2:189735053-189735054	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs557086941	chr2:189735087-189735088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373454956	chr2:189735100-189735101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575480357	chr2:189735118-189735119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34653366	chr2:189735211-189735212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545488143	chr2:189735223-189735224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564062885	chr2:189735246-189735247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190978501	chr2:189735257-189735258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377335451	chr2:189735264-189735265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189728600-189734200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:189733800-189734400	Enhancers	HSMMtube	muscle
3	chr2:189733800-189734600	Enhancers	Aorta	Aorta
4	chr2:189733800-189735000	Enhancers	Fetal Stomach	stomach
5	chr2:189733800-189735200	Enhancers	Fetal Lung	lung
6	chr2:189733800-189735400	Enhancers	NHDF-Ad	bronchial
7	chr2:189733800-189735600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:189733800-189735800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:189734000-189734600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:189734000-189735200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:189734000-189735200	Enhancers	Stomach Smooth Muscle	stomach
12	chr2:189734000-189735200	Enhancers	NHLF	lung
13	chr2:189734000-189735600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:189734000-189735600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:189734000-189735600	Enhancers	Osteobl	bone
16	chr2:189734200-189734400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:189734200-189734600	Enhancers	Adipose Nuclei	Adipose
18	chr2:189734200-189734600	Enhancers	Fetal Heart	heart
19	chr2:189734200-189734600	Enhancers	Fetal Muscle Leg	muscle
20	chr2:189734200-189734800	Enhancers	Ovary	ovary
21	chr2:189734200-189734800	Enhancers	HSMM	muscle
22	chr2:189734200-189735200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr2:189734200-189735200	Enhancers	NH-A	brain
24	chr2:189734400-189735200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:189734400-189735200	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:189734400-189735400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:189734400-189735600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:189734600-189735800	Weak transcription	Aorta	Aorta
29	chr2:189735200-189736200	Weak transcription	Fetal Lung	lung
30	chr2:189735200-189740000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:189736200-189737200	Enhancers	Fetal Lung	lung
32	chr2:189736400-189737400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:189736800-189737200	Enhancers	Fetal Kidney	kidney
34	chr2:189736800-189737400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:189737200-189743200	Weak transcription	Fetal Lung	lung
36	chr2:189739000-189755600	Weak transcription	Aorta	Aorta
37	chr2:189740000-189740600	Enhancers	Placenta Amnion	Placenta Amnion

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