Variant report

Variant	nsv1038515
Chromosome Location	chr12:34217488-34257469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:34241238..34243550-chr12:38853316..38855678,2	MCF-7	breast:
2	chr12:34247375..34249864-chr12:34256794..34259523,2	MCF-7	breast:
3	chr12:34247375..34249864-chr12:34256794..34259523,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78794228	chr12:34250224-34250225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550944358	chr12:34250231-34250232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569900116	chr12:34250261-34250262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150065572	chr12:34250299-34250300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532401584	chr12:34250321-34250322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113712616	chr12:34250346-34250347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183735241	chr12:34250352-34250353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186959499	chr12:34250360-34250361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565847915	chr12:34250365-34250366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534733219	chr12:34250366-34250367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554397966	chr12:34250372-34250373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11053122	chr12:34250376-34250377	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536692899	chr12:34250384-34250385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376356466	chr12:34250407-34250408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543108993	chr12:34250442-34250443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148718060	chr12:34250454-34250455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553172200	chr12:34250503-34250504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573129312	chr12:34250541-34250542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576598985	chr12:34250647-34250648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12814806	chr12:34250648-34250649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575691057	chr12:34250650-34250651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376921651	chr12:34250672-34250673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114321411	chr12:34250695-34250696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74075710	chr12:34250735-34250736	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs532465313	chr12:34250762-34250763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35440180	chr12:34250767-34250768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191777524	chr12:34250773-34250774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561352393	chr12:34250775-34250776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184196516	chr12:34250833-34250834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111954894	chr12:34250849-34250850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548358399	chr12:34250875-34250876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568062940	chr12:34250876-34250877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531870151	chr12:34250926-34250927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79091500	chr12:34250931-34250932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570083873	chr12:34250943-34250944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145259169	chr12:34250947-34250948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553284701	chr12:34250973-34250974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573190396	chr12:34250974-34250975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535722266	chr12:34250980-34250981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530301758	chr12:34250991-34250992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1511547	chr12:34251020-34251021	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs541099657	chr12:34251037-34251038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111769857	chr12:34251118-34251119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533036232	chr12:34251119-34251120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544660462	chr12:34251128-34251129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs55917927	chr12:34251146-34251147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533347341	chr12:34251176-34251177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs56260627	chr12:34251201-34251202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540619096	chr12:34251207-34251208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190084559	chr12:34251209-34251210	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34250200-34250600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:34250400-34251200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:34251200-34251600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links