Variant report

Variant	nsv9569
Chromosome Location	chr2:36050350-36053139
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144333418	chr2:36050351-36050352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72794211	chr2:36050395-36050396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566954743	chr2:36050408-36050409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533984569	chr2:36050501-36050502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148783156	chr2:36050633-36050634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117205325	chr2:36050678-36050679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13020037	chr2:36050681-36050682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547567974	chr2:36050710-36050711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77661051	chr2:36050711-36050712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13020086	chr2:36050756-36050757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556799440	chr2:36050811-36050812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575069673	chr2:36050817-36050818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542603277	chr2:36050841-36050842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554218487	chr2:36050851-36050852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572804156	chr2:36050873-36050874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17017523	chr2:36050884-36050885	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564998207	chr2:36050899-36050900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17017526	chr2:36050908-36050909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs17017530	chr2:36050943-36050944	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs538797699	chr2:36050955-36050956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147807323	chr2:36050966-36050967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111937772	chr2:36050977-36050978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566712483	chr2:36050988-36050989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112733929	chr2:36051018-36051019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553997466	chr2:36051037-36051038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191549331	chr2:36051104-36051105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144997125	chr2:36051158-36051159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17017533	chr2:36051185-36051186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545216847	chr2:36051198-36051199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372561372	chr2:36051200-36051201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377226739	chr2:36051201-36051202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556524931	chr2:36051260-36051261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4109144	chr2:36051299-36051300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs386644819	chr2:36051312-36051313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140861683	chr2:36051313-36051314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150176894	chr2:36051336-36051337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533801765	chr2:36051355-36051356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374360691	chr2:36051362-36051363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145424236	chr2:36051398-36051399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10495847	chr2:36051446-36051447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs12466057	chr2:36051448-36051449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115397059	chr2:36051477-36051478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183852792	chr2:36051611-36051612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574585617	chr2:36051622-36051623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541723997	chr2:36051627-36051628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187800183	chr2:36051636-36051637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554681467	chr2:36051646-36051647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575921518	chr2:36051679-36051680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145562052	chr2:36051724-36051725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4109145	chr2:36051741-36051742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36045600-36050600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:36046400-36050600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr2:36046600-36050600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:36046600-36050800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:36047200-36050600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:36047400-36050800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:36048400-36050600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:36049400-36052800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:36049600-36057000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:36050000-36051000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:36050200-36052400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:36050200-36052800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:36050600-36052200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:36051000-36052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:36052200-36052400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:36052400-36052600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:36052400-36052600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:36052800-36053000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:36052800-36053000	Enhancers	K562	blood
20	chr2:36052800-36053200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr2:36052800-36053200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:36052800-36053200	Active TSS	GM12878-XiMat	blood
23	chr2:36052800-36053200	Active TSS	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links