Variant report

Variant	nsv875235
Chromosome Location	chr2:142158967-142188957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:142162036..142164239-chr2:142169012..142170752,2	K562	blood:
2	chr2:142162036..142164239-chr2:142169012..142170752,2	K562	blood:
3	chr2:142176781..142180982-chr2:142186884..142191096,4	MCF-7	breast:
4	chr2:142186559..142188286-chr2:142189244..142191803,2	MCF-7	breast:
5	chr2:142176781..142180982-chr2:142186884..142191096,4	MCF-7	breast:

Extended variants
information (count: 466 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545577237	chr2:142160407-142160408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543690374	chr2:142160412-142160413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558846945	chr2:142160414-142160415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139254493	chr2:142160431-142160432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116598322	chr2:142160548-142160549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181269872	chr2:142160573-142160574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185688112	chr2:142160598-142160599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530022542	chr2:142160611-142160612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543538026	chr2:142160690-142160691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150050635	chr2:142160715-142160716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191626573	chr2:142160738-142160739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16846015	chr2:142160749-142160750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565689999	chr2:142160753-142160754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528407362	chr2:142160788-142160789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553281039	chr2:142160790-142160791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs16846018	chr2:142160847-142160848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183828012	chr2:142160853-142160854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537018709	chr2:142160855-142160856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553003450	chr2:142160869-142160870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558783240	chr2:142160908-142160909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111409918	chr2:142160909-142160910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570539543	chr2:142160916-142160917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369407361	chr2:142160919-142160920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539116938	chr2:142160959-142160960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73963073	chr2:142160966-142160967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114671907	chr2:142160971-142160972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192426195	chr2:142161049-142161050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554821805	chr2:142161090-142161091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7600009	chr2:142161092-142161093	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs543403444	chr2:142161095-142161096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7569029	chr2:142161125-142161126	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs532642216	chr2:142161378-142161379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545952487	chr2:142161391-142161392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527535620	chr2:142161404-142161405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528278350	chr2:142161411-142161412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562974510	chr2:142161414-142161415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548528373	chr2:142161417-142161418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140890019	chr2:142161422-142161423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530787816	chr2:142161431-142161432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542750292	chr2:142161562-142161563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57151964	chr2:142161573-142161574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116691624	chr2:142161620-142161621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542939462	chr2:142161634-142161635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75288340	chr2:142161696-142161697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61611168	chr2:142161742-142161743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs72985136	chr2:142161798-142161799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182201966	chr2:142161803-142161804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144852092	chr2:142161833-142161834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147584450	chr2:142161872-142161873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561205884	chr2:142161890-142161891	Weak transcription	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142160400-142166000	Weak transcription	Pancreas	Pancrea
2	chr2:142161000-142161400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:142167400-142169600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:142174200-142176200	Enhancers	Dnd41	blood
5	chr2:142180000-142182200	Enhancers	Dnd41	blood

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