Variant report

Variant	nsv875232
Chromosome Location	chr2:142113241-142172366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:142152511..142154867-chr2:142224989..142226849,2	MCF-7	breast:
2	chr2:142162036..142164239-chr2:142169012..142170752,2	K562	blood:
3	chr2:142162036..142164239-chr2:142169012..142170752,2	K562	blood:

Extended variants
information (count: 1182 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1182 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77508744	chr2:142119816-142119817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539554175	chr2:142119826-142119827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552806667	chr2:142119835-142119836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566542601	chr2:142119839-142119840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535231679	chr2:142119855-142119856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188520470	chr2:142119865-142119866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555158958	chr2:142119876-142119877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369768330	chr2:142119903-142119904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192156825	chr2:142119924-142119925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537325131	chr2:142119961-142119962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373456586	chr2:142119966-142119967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577186346	chr2:142120038-142120039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546151087	chr2:142120045-142120046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561900725	chr2:142120046-142120047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146800980	chr2:142120060-142120061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541664142	chr2:142120163-142120164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183961360	chr2:142120211-142120212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530860721	chr2:142120226-142120227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550584266	chr2:142120282-142120283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115178103	chr2:142120299-142120300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532808110	chr2:142120310-142120311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546570630	chr2:142120318-142120319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540137108	chr2:142120353-142120354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372926853	chr2:142120386-142120387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575736467	chr2:142120387-142120388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566578970	chr2:142120409-142120410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535532590	chr2:142120436-142120437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187688294	chr2:142120449-142120450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568656660	chr2:142120561-142120562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10208100	chr2:142120597-142120598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557390835	chr2:142120600-142120601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577420437	chr2:142120608-142120609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192348611	chr2:142120632-142120633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75624948	chr2:142120665-142120666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573046203	chr2:142120683-142120684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7594383	chr2:142120689-142120690	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs116539569	chr2:142120697-142120698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72979080	chr2:142120715-142120716	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544364129	chr2:142120728-142120729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116204325	chr2:142120780-142120781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76347708	chr2:142120792-142120793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78033748	chr2:142120801-142120802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183931546	chr2:142120816-142120817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544108766	chr2:142120828-142120829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549117461	chr2:142120850-142120851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200598266	chr2:142120858-142120859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144463035	chr2:142120926-142120927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187141974	chr2:142120939-142120940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537251863	chr2:142120978-142120979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140930512	chr2:142120998-142120999	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142119800-142120200	Enhancers	Liver	Liver
2	chr2:142119800-142121000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:142121000-142122600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:142122600-142122800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:142131200-142133200	Enhancers	Dnd41	blood
6	chr2:142132600-142135400	Weak transcription	Brain Substantia Nigra	brain
7	chr2:142133600-142137000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:142135400-142135800	Enhancers	Brain Substantia Nigra	brain
9	chr2:142135400-142136000	Enhancers	Dnd41	blood
10	chr2:142135400-142136200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr2:142136000-142138400	Flanking Active TSS	Dnd41	blood
12	chr2:142136200-142139600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:142137000-142138600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:142137000-142138600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:142137400-142138200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:142137800-142138400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:142137800-142138600	Enhancers	Fetal Thymus	thymus
18	chr2:142138000-142138400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:142138000-142138400	Enhancers	Brain Anterior Caudate	brain
20	chr2:142138000-142138600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:142138400-142139400	Weak transcription	Brain Anterior Caudate	brain
22	chr2:142138400-142143200	Enhancers	Dnd41	blood
23	chr2:142138600-142139600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:142139600-142139800	Enhancers	Brain Anterior Caudate	brain
25	chr2:142139600-142140000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:142139600-142140200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:142140000-142142200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:142142200-142142800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:142142400-142142800	Enhancers	A549	lung
30	chr2:142148600-142151000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:142149000-142150400	Enhancers	Hela-S3	cervix
32	chr2:142149200-142149400	Weak transcription	A549	lung
33	chr2:142149400-142150400	Enhancers	A549	lung
34	chr2:142149400-142151200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:142149600-142151400	Enhancers	HUVEC	blood vessel
36	chr2:142149800-142151600	Enhancers	NH-A	brain
37	chr2:142150000-142151000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:142150000-142151200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:142150200-142150800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr2:142150200-142150800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:142150400-142150800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:142150400-142150800	Flanking Active TSS	A549	lung
43	chr2:142150400-142150800	Flanking Active TSS	Hela-S3	cervix
44	chr2:142150600-142151000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:142150800-142151400	Enhancers	A549	lung
46	chr2:142150800-142152200	Enhancers	Hela-S3	cervix
47	chr2:142151200-142151800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:142151200-142152000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:142151800-142152000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:142152000-142152400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links