Variant report

Variant	nsv558594
Chromosome Location	chr12:40299849-40303631
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40301225..40304048-chr12:40312812..40315442,2	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17127234	chr12:40299849-40299850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528279075	chr12:40299865-40299866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183379290	chr12:40299867-40299868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571249071	chr12:40299900-40299901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1874560	chr12:40299913-40299914	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550589792	chr12:40299923-40299924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11279548	chr12:40299931-40299932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs60153311	chr12:40299932-40299933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200698809	chr12:40299935-40299936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201696231	chr12:40299936-40299937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78478359	chr12:40299937-40299938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397721493	chr12:40299939-40299940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189233729	chr12:40299960-40299961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17127239	chr12:40299972-40299973	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554786243	chr12:40300007-40300008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17559609	chr12:40300012-40300013	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192497997	chr12:40300013-40300014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111806956	chr12:40300014-40300015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577656322	chr12:40300089-40300090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544896498	chr12:40300125-40300126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567146117	chr12:40300312-40300313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563144406	chr12:40300324-40300325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552857251	chr12:40300342-40300343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375367329	chr12:40300410-40300411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138046561	chr12:40300491-40300492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114353754	chr12:40300570-40300571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528181304	chr12:40300585-40300586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183088046	chr12:40300597-40300598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12321453	chr12:40300635-40300636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532307618	chr12:40300643-40300644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550477192	chr12:40300729-40300730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568782522	chr12:40300770-40300771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536253380	chr12:40300811-40300812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143603823	chr12:40300847-40300848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144058683	chr12:40300848-40300849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534295309	chr12:40300870-40300871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148680899	chr12:40300893-40300894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577495719	chr12:40300895-40300896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368283304	chr12:40300913-40300914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76497335	chr12:40300977-40300978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556901984	chr12:40301019-40301020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542300714	chr12:40301094-40301095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115212199	chr12:40301142-40301143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572880675	chr12:40301154-40301155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540307943	chr12:40301162-40301163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564604355	chr12:40301168-40301169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186715004	chr12:40301210-40301211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78429575	chr12:40301295-40301296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543368077	chr12:40301323-40301324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150811210	chr12:40301338-40301339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40297000-40300200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr12:40297200-40300600	Enhancers	Fetal Brain Male	brain
3	chr12:40298400-40300000	Enhancers	Colon Smooth Muscle	Colon
4	chr12:40298400-40314200	Weak transcription	Fetal Kidney	kidney
5	chr12:40298600-40300200	Enhancers	Fetal Brain Female	brain
6	chr12:40298800-40311200	Weak transcription	Pancreas	Pancrea
7	chr12:40299200-40300000	Enhancers	Brain Hippocampus Middle	brain
8	chr12:40299200-40304400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:40299200-40305600	Weak transcription	Esophagus	oesophagus
10	chr12:40299200-40306400	Weak transcription	Left Ventricle	heart
11	chr12:40299600-40306200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:40299600-40309200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:40299800-40300000	Enhancers	Stomach Smooth Muscle	stomach
14	chr12:40300000-40306200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:40300200-40309000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:40300600-40302000	Weak transcription	Fetal Brain Male	brain
17	chr12:40302400-40302600	Enhancers	Fetal Brain Male	brain
18	chr12:40303200-40312200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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