Variant report

Variant	nsv819283
Chromosome Location	chr2:98418819-98421568
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	chr2:98414101..98415946-chr2:98420094..98421942,2	MCF-7	breast:
2	chr2:98416559..98419447-chr2:98426233..98427931,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17022568	chr2:98418876-98418877	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373640363	chr2:98418904-98418905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548756577	chr2:98418911-98418912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376680657	chr2:98418959-98418960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370794667	chr2:98418972-98418973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544772877	chr2:98419007-98419008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149680190	chr2:98419021-98419022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199693895	chr2:98419040-98419041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75731847	chr2:98419080-98419081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557363029	chr2:98419129-98419130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145516416	chr2:98419146-98419147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374617299	chr2:98419156-98419157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368661778	chr2:98419206-98419207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372218938	chr2:98419210-98419211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375241359	chr2:98419234-98419235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556979621	chr2:98419263-98419264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573646682	chr2:98419296-98419297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139240806	chr2:98419300-98419301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559965232	chr2:98419313-98419314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187258840	chr2:98419446-98419447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79863578	chr2:98419491-98419492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2309318	chr2:98419492-98419493	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs3886320	chr2:98419503-98419504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530887119	chr2:98419519-98419520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143986532	chr2:98419525-98419526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs718159	chr2:98419534-98419535	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs530131953	chr2:98419582-98419583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374547485	chr2:98419598-98419599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551407030	chr2:98419643-98419644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193188816	chr2:98419648-98419649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534627247	chr2:98419653-98419654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146430767	chr2:98419662-98419663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571166644	chr2:98419666-98419667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537092650	chr2:98419705-98419706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11691494	chr2:98419726-98419727	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs573710662	chr2:98419742-98419743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536337870	chr2:98419783-98419784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553620499	chr2:98419784-98419785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573446313	chr2:98419804-98419805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545719644	chr2:98419805-98419806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141101377	chr2:98419820-98419821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11897301	chr2:98419825-98419826	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs544638225	chr2:98419917-98419918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541747783	chr2:98419947-98419948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17022581	chr2:98419980-98419981	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs143194516	chr2:98420019-98420020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61022501	chr2:98420027-98420028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79034007	chr2:98420078-98420079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551153751	chr2:98420102-98420103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11684749	chr2:98420142-98420143	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98378600-98421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:98382800-98419800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:98383200-98420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:98398800-98421000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:98399600-98429600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:98401400-98422600	Strong transcription	Primary B cells from cord blood	blood
8	chr2:98401600-98422400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:98402000-98423200	Strong transcription	Primary B cells from peripheral blood	blood
10	chr2:98402000-98440400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:98402200-98422200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr2:98402200-98422600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:98402400-98428600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:98402600-98422200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:98402600-98422600	Strong transcription	Liver	Liver
16	chr2:98403200-98422400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:98403600-98422600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:98405800-98459600	Weak transcription	Stomach Mucosa	stomach
19	chr2:98406200-98427200	Weak transcription	K562	blood
20	chr2:98406400-98469200	Weak transcription	A549	lung
21	chr2:98407400-98422000	Strong transcription	Adipose Nuclei	Adipose
22	chr2:98407400-98422200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr2:98407800-98422000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:98409000-98425000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:98409200-98423600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:98409400-98423400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:98409400-98423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:98409400-98423600	Weak transcription	Psoas Muscle	Psoas
29	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
30	chr2:98409600-98419800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:98409600-98429800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:98409800-98425000	Weak transcription	Fetal Brain Female	brain
33	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
34	chr2:98410000-98423400	Weak transcription	Right Ventricle	heart
35	chr2:98410000-98424800	Weak transcription	Brain Germinal Matrix	brain
36	chr2:98410000-98424800	Weak transcription	Esophagus	oesophagus
37	chr2:98410000-98425200	Weak transcription	Gastric	stomach
38	chr2:98410000-98425400	Weak transcription	Pancreas	Pancrea
39	chr2:98410000-98425800	Weak transcription	NH-A	brain
40	chr2:98410000-98427000	Weak transcription	Brain Angular Gyrus	brain
41	chr2:98410000-98427200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:98410000-98427200	Weak transcription	Brain Substantia Nigra	brain
43	chr2:98410000-98427400	Weak transcription	HSMMtube	muscle
44	chr2:98410000-98427800	Weak transcription	Spleen	Spleen
45	chr2:98410000-98435800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:98410000-98446000	Weak transcription	Colonic Mucosa	Colon
47	chr2:98410000-98456200	Weak transcription	Thymus	Thymus
48	chr2:98410000-98456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:98410000-98456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:98410000-98457400	Weak transcription	Small Intestine	intestine

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