Variant report

Variant	nsv1001980
Chromosome Location	chr2:115539567-115551331
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 390 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181322352	chr2:115539600-115539601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566307738	chr2:115539634-115539635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs319845	chr2:115539685-115539686	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs115624879	chr2:115539714-115539715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186331713	chr2:115539715-115539716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191991536	chr2:115539730-115539731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537107198	chr2:115539750-115539751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556722528	chr2:115539761-115539762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs319846	chr2:115539766-115539767	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142402777	chr2:115539776-115539777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559238701	chr2:115539816-115539817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570658521	chr2:115539902-115539903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572773333	chr2:115539905-115539906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3036347	chr2:115539906-115539907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541665412	chr2:115539911-115539912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112821187	chr2:115539917-115539918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200336006	chr2:115539922-115539923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371885015	chr2:115539979-115539980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183360946	chr2:115540002-115540003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs319847	chr2:115540049-115540050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563559630	chr2:115540063-115540064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189118200	chr2:115540070-115540071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575311721	chr2:115540087-115540088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112800533	chr2:115540090-115540091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182313425	chr2:115540091-115540092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146860362	chr2:115540106-115540107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35793924	chr2:115540107-115540108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140696807	chr2:115540149-115540150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568628857	chr2:115540220-115540221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556725511	chr2:115540266-115540267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557004250	chr2:115540275-115540276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553207416	chr2:115540291-115540292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576497680	chr2:115540296-115540297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539068742	chr2:115540335-115540336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552507467	chr2:115540359-115540360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572813991	chr2:115540418-115540419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542099100	chr2:115540425-115540426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555322862	chr2:115540502-115540503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573887041	chr2:115540571-115540572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542507222	chr2:115540600-115540601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78660404	chr2:115540640-115540641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17730230	chr2:115540650-115540651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs111583881	chr2:115540657-115540658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372095059	chr2:115540772-115540773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186637037	chr2:115540798-115540799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191398430	chr2:115540843-115540844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559742886	chr2:115540855-115540856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528822945	chr2:115540864-115540865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184341787	chr2:115540891-115540892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534672370	chr2:115541012-115541013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115538800-115539800	Enhancers	Brain Substantia Nigra	brain
2	chr2:115539000-115539600	Enhancers	Brain Hippocampus Middle	brain
3	chr2:115539000-115539800	Enhancers	Brain Angular Gyrus	brain
4	chr2:115539600-115539800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:115539600-115541400	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:115539800-115545000	Weak transcription	Brain Substantia Nigra	brain
7	chr2:115539800-115547000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:115541200-115541600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:115541200-115541600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:115541200-115541800	Enhancers	Pancreas	Pancrea
11	chr2:115541400-115541600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:115541400-115542000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:115541400-115542000	Enhancers	Brain Hippocampus Middle	brain
14	chr2:115541600-115541800	Enhancers	Ovary	ovary
15	chr2:115541600-115542600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:115541600-115542800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:115541600-115546800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:115541800-115542000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:115542000-115542400	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:115542000-115542600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:115542000-115546600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:115542400-115543000	Enhancers	Brain Hippocampus Middle	brain
23	chr2:115542400-115543400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:115542600-115543200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:115542600-115543200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:115542800-115543000	Enhancers	Ovary	ovary
27	chr2:115543000-115543200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:115543200-115544800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:115543200-115546800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:115544800-115545000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr2:115544800-115545400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:115545200-115545400	Enhancers	Brain Substantia Nigra	brain
33	chr2:115545400-115546400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:115546400-115547000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:115546400-115549200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:115546600-115547400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:115546800-115547000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:115546800-115547200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:115546800-115548000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:115546800-115549000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:115546800-115549400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:115547000-115547600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr2:115547000-115547600	Enhancers	Fetal Kidney	kidney
44	chr2:115547000-115547800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:115547000-115548000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr2:115547200-115548200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr2:115547400-115548000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr2:115547600-115548400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:115547800-115548800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:115548000-115548400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links