Variant report

Variant	nsv821738
Chromosome Location	chr2:142196519-142197157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13031808	chr2:142196555-142196556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559750866	chr2:142196571-142196572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528297110	chr2:142196603-142196604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548329258	chr2:142196606-142196607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10198566	chr2:142196619-142196620	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530694058	chr2:142196622-142196623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192984296	chr2:142196625-142196626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550209093	chr2:142196666-142196667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138025918	chr2:142196731-142196732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539007268	chr2:142196740-142196741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552655349	chr2:142196762-142196763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183308546	chr2:142196766-142196767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188748425	chr2:142196789-142196790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35448478	chr2:142196793-142196794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193008518	chr2:142196794-142196795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555131779	chr2:142196808-142196809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532229871	chr2:142196819-142196820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35387500	chr2:142196853-142196854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs142824543	chr2:142196881-142196882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557644501	chr2:142196899-142196900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562738546	chr2:142196914-142196915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs67851039	chr2:142196941-142196942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs546190572	chr2:142196977-142196978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113347434	chr2:142196995-142196996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200468042	chr2:142197015-142197016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146095461	chr2:142197022-142197023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541685232	chr2:142197026-142197027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561917150	chr2:142197027-142197028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530753886	chr2:142197071-142197072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185729414	chr2:142197092-142197093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71417143	chr2:142197119-142197120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142196400-142197600	Enhancers	NH-A	brain
2	chr2:142196400-142199200	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:142196600-142205800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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