Variant report

Variant	nsv874911
Chromosome Location	chr2:115515053-115554390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:115515913..115518082-chr2:115519516..115521359,2	K562	blood:
2	chr2:115508836..115511567-chr2:115514071..115516240,2	K562	blood:
3	chr2:115515913..115518082-chr2:115519516..115521359,2	K562	blood:

Extended variants
information (count: 878 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:878 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17729314	chr2:115515053-115515054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187011036	chr2:115515069-115515070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192216166	chr2:115515070-115515071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182844426	chr2:115515071-115515072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529102621	chr2:115515072-115515073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370615560	chr2:115515112-115515113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374733306	chr2:115515134-115515135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17043502	chr2:115515146-115515147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568922128	chr2:115515153-115515154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189127894	chr2:115515176-115515177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550750663	chr2:115515232-115515233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193049839	chr2:115515244-115515245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76709803	chr2:115515258-115515259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553735993	chr2:115515267-115515268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573556721	chr2:115515313-115515314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535747666	chr2:115515334-115515335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184494819	chr2:115515372-115515373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115296741	chr2:115515380-115515381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568296435	chr2:115515383-115515384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189328066	chr2:115515397-115515398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192703539	chr2:115515412-115515413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4849350	chr2:115515416-115515417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542463331	chr2:115515419-115515420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13017277	chr2:115515430-115515431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539818622	chr2:115515487-115515488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374182233	chr2:115515488-115515489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111397293	chr2:115515496-115515497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573105879	chr2:115515508-115515509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184268449	chr2:115515571-115515572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35095391	chr2:115515615-115515616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs529202205	chr2:115515698-115515699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548963763	chr2:115515720-115515721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562706259	chr2:115515730-115515731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531401606	chr2:115515836-115515837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551135863	chr2:115515898-115515899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149389363	chr2:115515932-115515933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539870799	chr2:115515935-115515936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144764968	chr2:115515987-115515988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564919077	chr2:115516009-115516010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148561127	chr2:115516011-115516012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536157012	chr2:115516058-115516059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555739527	chr2:115516059-115516060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188602838	chr2:115516068-115516069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10203323	chr2:115516080-115516081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs565452184	chr2:115516113-115516114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17043508	chr2:115516116-115516117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs550227234	chr2:115516141-115516142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539904488	chr2:115516168-115516169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553360112	chr2:115516180-115516181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560993713	chr2:115516229-115516230	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115513200-115520800	Weak transcription	Pancreas	Pancrea
2	chr2:115519000-115519800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:115519000-115520800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:115519200-115519800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr2:115519200-115520200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:115519200-115521600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:115519400-115519600	Enhancers	Left Ventricle	heart
8	chr2:115519400-115520200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:115520200-115520800	Enhancers	Brain Angular Gyrus	brain
10	chr2:115520200-115520800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr2:115520200-115520800	Enhancers	Brain Substantia Nigra	brain
12	chr2:115520200-115521600	Enhancers	Fetal Heart	heart
13	chr2:115520200-115526200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:115520800-115521000	Enhancers	Pancreas	Pancrea
15	chr2:115526200-115528000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:115526400-115527600	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:115526400-115528200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:115526600-115527600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:115526800-115527400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:115527000-115528000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:115527200-115527600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr2:115527200-115527800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:115527200-115528000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:115527400-115527800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:115538600-115539000	Enhancers	Brain Anterior Caudate	brain
26	chr2:115538600-115539000	Enhancers	Brain Cingulate Gyrus	brain
27	chr2:115538600-115539400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr2:115538800-115539800	Enhancers	Brain Substantia Nigra	brain
29	chr2:115539000-115539600	Enhancers	Brain Hippocampus Middle	brain
30	chr2:115539000-115539800	Enhancers	Brain Angular Gyrus	brain
31	chr2:115539600-115539800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:115539600-115541400	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:115539800-115545000	Weak transcription	Brain Substantia Nigra	brain
34	chr2:115539800-115547000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:115541200-115541600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:115541200-115541600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:115541200-115541800	Enhancers	Pancreas	Pancrea
38	chr2:115541400-115541600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:115541400-115542000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:115541400-115542000	Enhancers	Brain Hippocampus Middle	brain
41	chr2:115541600-115541800	Enhancers	Ovary	ovary
42	chr2:115541600-115542600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:115541600-115542800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:115541600-115546800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:115541800-115542000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:115542000-115542400	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:115542000-115542600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:115542000-115546600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:115542400-115543000	Enhancers	Brain Hippocampus Middle	brain
50	chr2:115542400-115543400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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