Variant report

Variant	nsv583998
Chromosome Location	chr2:185118489-185163906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:185128748..185131745-chr2:185134110..185138355,3	K562	blood:
2	chr2:185128748..185131745-chr2:185134110..185138355,3	K562	blood:
3	chr16:57227705..57228253-chr2:185151504..185152004,2	NB4	blood:
4	chr2:185160917..185163331-chr2:185190953..185193318,2	K562	blood:
5	chr2:185115001..185116702-chr2:185121013..185123546,2	K562	blood:

Extended variants
information (count: 444 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7585856	chr2:185118489-185118490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150761858	chr2:185118517-185118518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561267941	chr2:185118550-185118551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531569356	chr2:185118647-185118648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550224116	chr2:185118649-185118650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571723810	chr2:185118672-185118673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541286503	chr2:185118760-185118761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552994942	chr2:185118810-185118811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532663870	chr2:185118816-185118817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186754136	chr2:185118848-185118849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78636039	chr2:185118869-185118870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536878707	chr2:185118900-185118901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554949435	chr2:185118980-185118981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372925365	chr2:185121558-185121559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540902435	chr2:185121560-185121561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115947491	chr2:185121620-185121621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529659538	chr2:185121722-185121723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548229989	chr2:185121765-185121766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7592502	chr2:185121787-185121788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141961464	chr2:185121794-185121795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555873098	chr2:185125065-185125066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577728793	chr2:185125207-185125208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190714648	chr2:185125267-185125268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560140805	chr2:185125330-185125331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114151530	chr2:185125355-185125356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375935670	chr2:185125378-185125379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542593505	chr2:185125387-185125388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7578088	chr2:185125455-185125456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561262699	chr2:185125478-185125479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7578370	chr2:185125486-185125487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7604457	chr2:185125501-185125502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7604472	chr2:185125547-185125548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146033966	chr2:185125551-185125552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74676048	chr2:185125592-185125593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7578490	chr2:185125622-185125623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386653431	chr2:185125670-185125671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547974583	chr2:185125676-185125677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7594953	chr2:185125681-185125682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201739684	chr2:185125712-185125713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs397872711	chr2:185125713-185125714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200491259	chr2:185125714-185125715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114488022	chr2:185125731-185125732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536942048	chr2:185125739-185125740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7607436	chr2:185125757-185125758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181933254	chr2:185125806-185125807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554586619	chr2:185125829-185125830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186128956	chr2:185125836-185125837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537462531	chr2:185125880-185125881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555811737	chr2:185125955-185125956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7581332	chr2:185125992-185125993	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185117000-185118800	Weak transcription	Adipose Nuclei	Adipose
2	chr2:185118800-185119000	Enhancers	Adipose Nuclei	Adipose
3	chr2:185121400-185121800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:185125000-185125600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:185125400-185127400	Enhancers	Liver	Liver
6	chr2:185125600-185127000	Enhancers	Adipose Nuclei	Adipose
7	chr2:185126000-185126800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:185126800-185128600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:185127000-185134200	Weak transcription	Adipose Nuclei	Adipose
10	chr2:185128600-185129200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:185129000-185129200	Enhancers	Liver	Liver
12	chr2:185129200-185134800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:185133800-185134200	Enhancers	Psoas Muscle	Psoas
14	chr2:185134200-185134600	Weak transcription	Psoas Muscle	Psoas
15	chr2:185134200-185136600	Enhancers	Adipose Nuclei	Adipose
16	chr2:185134600-185134800	Enhancers	Psoas Muscle	Psoas
17	chr2:185134600-185134800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:185134800-185136200	Weak transcription	Psoas Muscle	Psoas
19	chr2:185134800-185137000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:185135400-185137400	Enhancers	K562	blood
21	chr2:185135600-185136000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:185135600-185136000	Enhancers	Fetal Kidney	kidney
23	chr2:185135600-185136200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:185136000-185137000	Weak transcription	Fetal Kidney	kidney
25	chr2:185136000-185137600	Enhancers	Fetal Heart	heart
26	chr2:185136200-185136800	Enhancers	Psoas Muscle	Psoas
27	chr2:185136600-185137000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:185137000-185137200	Enhancers	Fetal Kidney	kidney

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