Variant report

Variant	nsv821859
Chromosome Location	chr2:189900851-189901309
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 49 )

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	rs115339991	chr2:189900941-189900942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535466751	chr2:189901020-189901021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187654463	chr2:189901024-189901025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373440253	chr2:189901053-189901054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13008197	chr2:189901060-189901061	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs566529372	chr2:189901106-189901107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13393368	chr2:189901119-189901120	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546291855	chr2:189901128-189901129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557836282	chr2:189901147-189901148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573300014	chr2:189901221-189901222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142224900	chr2:189901252-189901253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557712823	chr2:189901288-189901289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12693526	chr2:189901295-189901296	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:49)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189888000-189902600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:189888000-189917400	Weak transcription	Ovary	ovary
3	chr2:189889800-189931000	Weak transcription	Esophagus	oesophagus
4	chr2:189890400-189902800	Weak transcription	Fetal Stomach	stomach
5	chr2:189891600-189913600	Weak transcription	Fetal Kidney	kidney
6	chr2:189892000-189904000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:189893200-189932600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:189893600-189916200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:189894000-189913800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:189894600-189903800	Weak transcription	Placenta	Placenta
11	chr2:189894600-189932800	Weak transcription	Right Ventricle	heart
12	chr2:189895000-189902000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:189895000-189902000	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr2:189895000-189902200	Strong transcription	Osteobl	bone
15	chr2:189895200-189901600	Strong transcription	NHDF-Ad	bronchial
16	chr2:189895200-189902000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:189895200-189902000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:189895200-189902200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:189895200-189909000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:189895200-189940800	Strong transcription	HSMM	muscle
21	chr2:189895400-189902200	Strong transcription	NH-A	brain
22	chr2:189895600-189965200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:189895800-189903000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:189896000-189907400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:189896200-189962400	Weak transcription	Left Ventricle	heart
26	chr2:189896400-189922600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:189896600-189910600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:189896800-189932800	Weak transcription	Pancreas	Pancrea
29	chr2:189897000-189902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:189897000-189911000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:189897000-189949000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:189897200-189903600	Weak transcription	Fetal Intestine Small	intestine
33	chr2:189897200-189934400	Weak transcription	Gastric	stomach
34	chr2:189897400-189905800	Weak transcription	Brain Anterior Caudate	brain
35	chr2:189897400-189917400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:189897400-189932400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:189897600-189934000	Weak transcription	Lung	lung
38	chr2:189898400-189938200	Weak transcription	HMEC	breast
39	chr2:189899000-189902800	Weak transcription	Fetal Intestine Large	intestine
40	chr2:189899000-189903400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:189899000-189904000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:189899000-189905000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:189899000-189916000	Weak transcription	Aorta	Aorta
44	chr2:189899000-189919000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:189899000-189925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:189899000-189939200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:189899200-189902800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:189899200-189902800	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:189899600-189903200	Weak transcription	Liver	Liver
50	chr2:189899800-189901400	Weak transcription	Fetal Lung	lung

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