Variant report

Variant	nsv946580
Chromosome Location	chr1:188808514-188814168
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545109250	chr1:188812205-188812206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7548983	chr1:188812287-188812288	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs189570968	chr1:188812297-188812298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73068782	chr1:188812369-188812370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370064266	chr1:188812459-188812460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372728864	chr1:188812460-188812461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529948246	chr1:188812549-188812550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375026532	chr1:188812557-188812558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75730299	chr1:188812564-188812565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537380735	chr1:188812571-188812572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146037269	chr1:188812606-188812607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78916713	chr1:188812631-188812632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181277902	chr1:188812640-188812641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375006964	chr1:188812649-188812650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11811064	chr1:188812655-188812656	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs34807144	chr1:188812663-188812664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548603273	chr1:188812723-188812724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568421708	chr1:188812736-188812737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534509140	chr1:188812797-188812798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs118018029	chr1:188812813-188812814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11810709	chr1:188812874-188812875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75637922	chr1:188812893-188812894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76440077	chr1:188812920-188812921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76812487	chr1:188812986-188812987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184322551	chr1:188813097-188813098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372911301	chr1:188813121-188813122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188924345	chr1:188813142-188813143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181616614	chr1:188813154-188813155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539823312	chr1:188813221-188813222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560223729	chr1:188813234-188813235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532429955	chr1:188813260-188813261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552136587	chr1:188813304-188813305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562653512	chr1:188813350-188813351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187236120	chr1:188813378-188813379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542006204	chr1:188813389-188813390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548666650	chr1:188813420-188813421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191904732	chr1:188813436-188813437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6692124	chr1:188813513-188813514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182491057	chr1:188813524-188813525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571098497	chr1:188813538-188813539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540122311	chr1:188813544-188813545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138826557	chr1:188813558-188813559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185934427	chr1:188813575-188813576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570197371	chr1:188813594-188813595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537573785	chr1:188813599-188813600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562139713	chr1:188813621-188813622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189872213	chr1:188813656-188813657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574181092	chr1:188813683-188813684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559683289	chr1:188813701-188813702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553727462	chr1:188813744-188813745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:188812200-188812600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr1:188812200-188813000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:188812400-188813000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:188812800-188813000	Enhancers	Pancreas	Pancrea
5	chr1:188813000-188815600	Weak transcription	Pancreas	Pancrea

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