Variant report

Variant	nsv875200
Chromosome Location	chr2:141448312-141504719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:141462311..141465013-chr2:141470003..141471554,2	K562	blood:
2	chr2:141466926..141469105-chr2:141480476..141482979,2	MCF-7	breast:
3	chr2:141425529..141427088-chr2:141449758..141451483,2	MCF-7	breast:
4	chr2:141469791..141471888-chr2:141475142..141477938,2	MCF-7	breast:
5	chr2:141469791..141471888-chr2:141475142..141477938,2	MCF-7	breast:
6	chr2:141497933..141498923-chr2:141566337..141567066,2	MCF-7	breast:
7	chr2:141462311..141465013-chr2:141470003..141471554,2	K562	blood:
8	chr2:141466926..141469105-chr2:141480476..141482979,2	MCF-7	breast:
9	chr2:141503402..141505492-chr2:141538809..141541757,2	K562	blood:

No data

Extended variants
information (count: 352 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:352 , 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	rs189349439	chr2:141452006-141452007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571033884	chr2:141452053-141452054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540057855	chr2:141452054-141452055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547203990	chr2:141452077-141452078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566615317	chr2:141452126-141452127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535545591	chr2:141452127-141452128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567249890	chr2:141452162-141452163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148956366	chr2:141452327-141452328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143635245	chr2:141452345-141452346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74963284	chr2:141452354-141452355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546872314	chr2:141452393-141452394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566850411	chr2:141452402-141452403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538970403	chr2:141452418-141452419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527738060	chr2:141452428-141452429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549170051	chr2:141452444-141452445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547217240	chr2:141452483-141452484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537424593	chr2:141452498-141452499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148098116	chr2:141452510-141452511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577852121	chr2:141452519-141452520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11901574	chr2:141452626-141452627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs375173180	chr2:141452694-141452695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529623081	chr2:141452748-141452749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138529962	chr2:141452774-141452775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559919249	chr2:141452796-141452797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192681396	chr2:141452859-141452860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141096184	chr2:141452872-141452873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561817557	chr2:141452877-141452878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184138077	chr2:141452890-141452891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146912091	chr2:141452903-141452904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139226340	chr2:141452982-141452983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9287298	chr2:141453036-141453037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs11902768	chr2:141453038-141453039	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs143246963	chr2:141453047-141453048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575759764	chr2:141453057-141453058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536033153	chr2:141453079-141453080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143173367	chr2:141453087-141453088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568845316	chr2:141453096-141453097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72907443	chr2:141453116-141453117	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs557466301	chr2:141453244-141453245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190644945	chr2:141453256-141453257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77232846	chr2:141453307-141453308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368365002	chr2:141453333-141453334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554814535	chr2:141453370-141453371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181986218	chr2:141453382-141453383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16844532	chr2:141453383-141453384	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573521047	chr2:141453430-141453431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542391551	chr2:141453463-141453464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561881003	chr2:141453490-141453491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185925587	chr2:141453528-141453529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112420387	chr2:141453530-141453531	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141452000-141454200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:141452400-141453400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:141452600-141453000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:141452800-141453200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:141461400-141461800	Enhancers	Brain Angular Gyrus	brain
6	chr2:141461400-141462200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:141469800-141470200	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr2:141470000-141470600	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr2:141470600-141471200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:141471200-141471400	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr2:141471400-141472200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:141475400-141475800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:141475400-141477400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr2:141483400-141483800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:141492400-141493600	Enhancers	Brain Germinal Matrix	brain
16	chr2:141492600-141493000	Enhancers	Dnd41	blood
17	chr2:141504600-141505600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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