Variant report

Variant	nsv819175
Chromosome Location	chr2:231214969-231222711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:231211208..231214034-chr2:231215264..231217419,2	K562	blood:
2	chr2:231211608..231214034-chr2:231214766..231217419,2	K562	blood:
3	chr2:231208083..231209786-chr2:231217678..231219607,2	K562	blood:

Extended variants
information (count: 297 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141081495	chr2:231215053-231215054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149878449	chr2:231215140-231215141	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189675700	chr2:231215157-231215158	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557088210	chr2:231215159-231215160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112323769	chr2:231215177-231215178	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376931758	chr2:231215178-231215179	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371541139	chr2:231215179-231215180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34397654	chr2:231215192-231215193	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547341440	chr2:231215237-231215238	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144889523	chr2:231215255-231215256	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536268423	chr2:231215290-231215291	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554639415	chr2:231215296-231215297	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572872944	chr2:231215320-231215321	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551978921	chr2:231215326-231215327	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558532999	chr2:231215384-231215385	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73110345	chr2:231215399-231215400	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544050768	chr2:231215400-231215401	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73110346	chr2:231215402-231215403	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575370239	chr2:231215407-231215408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369600258	chr2:231215433-231215434	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542692860	chr2:231215434-231215435	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560991098	chr2:231215464-231215465	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75110406	chr2:231215571-231215572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113980839	chr2:231215581-231215582	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565390447	chr2:231215602-231215603	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567727080	chr2:231215618-231215619	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532761925	chr2:231215671-231215672	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550860860	chr2:231215713-231215714	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141231445	chr2:231215749-231215750	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569457880	chr2:231215792-231215793	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529861690	chr2:231215805-231215806	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548297772	chr2:231215818-231215819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138708826	chr2:231215821-231215822	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533509497	chr2:231215860-231215861	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558837557	chr2:231215891-231215892	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570622873	chr2:231215898-231215899	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538130432	chr2:231215931-231215932	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180960403	chr2:231215956-231215957	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185182415	chr2:231215985-231215986	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140350237	chr2:231216065-231216066	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536498398	chr2:231216084-231216085	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554601095	chr2:231216094-231216095	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573191343	chr2:231216137-231216138	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73110349	chr2:231216141-231216142	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145488267	chr2:231216148-231216149	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61097362	chr2:231216154-231216155	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145421792	chr2:231216179-231216180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554747389	chr2:231216195-231216196	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115174636	chr2:231216240-231216241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543457417	chr2:231216248-231216249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231192800-231223800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:231193600-231224000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:231194000-231222600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:231200600-231224000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:231200800-231215600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:231201800-231223200	Weak transcription	HSMM	muscle
7	chr2:231211000-231222400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:231211200-231223200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:231211400-231220200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:231212200-231215600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:231212200-231216000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:231212400-231216200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:231212400-231220800	Weak transcription	Osteobl	bone
14	chr2:231212400-231222400	Weak transcription	Ovary	ovary
15	chr2:231212400-231224000	Weak transcription	Thymus	Thymus
16	chr2:231212400-231225200	Weak transcription	Lung	lung
17	chr2:231212600-231222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:231212600-231222600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:231212600-231222600	Weak transcription	Placenta	Placenta
20	chr2:231212600-231223200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:231212600-231224600	Weak transcription	Esophagus	oesophagus
22	chr2:231212600-231225200	Weak transcription	Fetal Stomach	stomach
23	chr2:231212600-231226000	Weak transcription	Pancreas	Pancrea
24	chr2:231212800-231216400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:231212800-231219600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:231212800-231222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:231212800-231222600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:231212800-231223000	Weak transcription	Fetal Thymus	thymus
29	chr2:231212800-231223200	Weak transcription	Left Ventricle	heart
30	chr2:231212800-231223800	Weak transcription	Aorta	Aorta
31	chr2:231212800-231224800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:231212800-231225600	Weak transcription	Spleen	Spleen
33	chr2:231212800-231235600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:231212800-231236600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:231212800-231253600	Weak transcription	Gastric	stomach
36	chr2:231212800-231253600	Weak transcription	HMEC	breast
37	chr2:231212800-231259200	Weak transcription	Small Intestine	intestine
38	chr2:231212800-231262400	Weak transcription	K562	blood
39	chr2:231213000-231215800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:231213000-231220200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:231213000-231222400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:231213000-231222400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:231213000-231222400	Weak transcription	Fetal Intestine Small	intestine
44	chr2:231213000-231222600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:231213000-231222800	Weak transcription	NH-A	brain
46	chr2:231213000-231223600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:231213000-231237600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:231213200-231216200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr2:231213200-231216400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:231213200-231220200	Weak transcription	Liver	Liver

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