Variant report

Variant	nsv527057
Chromosome Location	chr12:67049249-67051225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10784573	chr12:67049249-67049250	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563395345	chr12:67049255-67049256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10784574	chr12:67049279-67049280	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533798824	chr12:67049345-67049346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562460193	chr12:67049357-67049358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192541318	chr12:67049411-67049412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548223062	chr12:67049453-67049454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560624549	chr12:67049475-67049476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527814283	chr12:67049476-67049477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552713846	chr12:67049483-67049484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554031263	chr12:67049516-67049517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570929274	chr12:67049525-67049526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538456922	chr12:67049538-67049539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550454941	chr12:67049539-67049540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568772595	chr12:67049540-67049541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536252002	chr12:67049546-67049547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117700649	chr12:67049575-67049576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149307675	chr12:67049577-67049578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547541784	chr12:67049592-67049593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572879928	chr12:67049593-67049594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533679625	chr12:67049625-67049626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150516795	chr12:67049673-67049674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183931163	chr12:67049736-67049737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139613150	chr12:67049750-67049751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562398734	chr12:67049765-67049766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574430713	chr12:67049775-67049776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541804071	chr12:67049776-67049777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560311201	chr12:67049810-67049811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6581711	chr12:67049811-67049812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs75440427	chr12:67049812-67049813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375160230	chr12:67049816-67049817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552355105	chr12:67049872-67049873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562265550	chr12:67049881-67049882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369616776	chr12:67049883-67049884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531893992	chr12:67049924-67049925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550442704	chr12:67049951-67049952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7295700	chr12:67049979-67049980	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536190985	chr12:67049997-67049998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35933300	chr12:67050034-67050035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7295497	chr12:67050052-67050053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375662280	chr12:67050063-67050064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566316795	chr12:67050120-67050121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200333410	chr12:67050125-67050126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78503259	chr12:67050128-67050129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558331015	chr12:67050129-67050130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554041256	chr12:67050148-67050149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533475650	chr12:67050201-67050202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189026255	chr12:67050224-67050225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73327003	chr12:67050248-67050249	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs537638034	chr12:67050286-67050287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67042600-67055800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67047600-67051200	Enhancers	Fetal Brain Male	brain
3	chr12:67047800-67052800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:67048000-67052800	Weak transcription	Right Atrium	heart
5	chr12:67048400-67051000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:67048400-67052800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:67051000-67051200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:67051000-67051600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:67051200-67056000	Weak transcription	Fetal Brain Male	brain

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