Variant report

Variant	nsv829622
Chromosome Location	chr2:114571755-114572937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114564116..114565859-chr2:114571002..114572521,2	MCF-7	breast:
2	chr2:114564981..114567201-chr2:114572058..114575251,3	K562	blood:
3	chr2:114567212..114568945-chr2:114569443..114571759,2	K562	blood:
4	chr2:114564981..114567201-chr2:114572058..114574843,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554116833	chr2:114571758-114571759	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578216937	chr2:114571817-114571818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141933629	chr2:114571823-114571824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536781803	chr2:114571825-114571826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556996312	chr2:114571857-114571858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543796376	chr2:114571882-114571883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577014069	chr2:114571911-114571912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539613108	chr2:114571914-114571915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553003388	chr2:114571915-114571916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573130311	chr2:114571945-114571946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146621328	chr2:114572022-114572023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561299557	chr2:114572029-114572030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574861253	chr2:114572046-114572047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543596697	chr2:114572052-114572053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34309965	chr2:114572074-114572075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563793975	chr2:114572081-114572082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372117745	chr2:114572111-114572112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180948048	chr2:114572119-114572120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139129628	chr2:114572121-114572122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374783877	chr2:114572122-114572123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78498674	chr2:114572150-114572151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113401702	chr2:114572157-114572158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147457512	chr2:114572166-114572167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567747354	chr2:114572180-114572181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34989798	chr2:114572192-114572193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559905864	chr2:114572232-114572233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536730309	chr2:114572263-114572264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550447074	chr2:114572277-114572278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35905948	chr2:114572298-114572299	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs11691909	chr2:114572306-114572307	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs369320457	chr2:114572325-114572326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573057652	chr2:114572353-114572354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535773821	chr2:114572359-114572360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186361973	chr2:114572382-114572383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574926646	chr2:114572431-114572432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144587683	chr2:114572448-114572449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563633351	chr2:114572494-114572495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577238443	chr2:114572548-114572549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542503954	chr2:114572554-114572555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72835407	chr2:114572589-114572590	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs528640775	chr2:114572608-114572609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116007211	chr2:114572639-114572640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62170141	chr2:114572676-114572677	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs190379663	chr2:114572681-114572682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62170142	chr2:114572796-114572797	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs570477711	chr2:114572814-114572815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539552177	chr2:114572818-114572819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546695129	chr2:114572819-114572820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566717678	chr2:114572823-114572824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115006260	chr2:114572889-114572890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114567400-114576000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:114568200-114586000	Weak transcription	Primary T cells from cord blood	blood
3	chr2:114570000-114572600	Weak transcription	Right Ventricle	heart
4	chr2:114570000-114575800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:114570200-114575400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:114570200-114575400	Weak transcription	A549	lung
7	chr2:114570200-114575400	Weak transcription	NHDF-Ad	bronchial
8	chr2:114570200-114575600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:114570400-114575400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:114570600-114575400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:114571000-114571800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:114571800-114576000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links