Variant report

Variant	nsv519541
Chromosome Location	chr1:188760628-188802542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:188788862..188791265-chr1:188817309..188819818,2	MCF-7	breast:
2	chr1:188789143..188792283-chr1:188793641..188795538,3	K562	blood:
3	chr1:188753407..188755924-chr1:188760366..188763242,2	K562	blood:
4	chr1:188773169..188775117-chr1:188777054..188779991,2	K562	blood:
5	chr1:188789143..188792283-chr1:188793641..188795538,3	K562	blood:
6	chr1:188773169..188775117-chr1:188777054..188779991,2	K562	blood:
7	chr1:188762438..188765055-chr1:189455240..189458166,2	MCF-7	breast:

Extended variants
information (count: 156 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192483393	chr1:188769007-188769008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376970380	chr1:188769008-188769009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565427888	chr1:188769023-188769024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532351621	chr1:188769025-188769026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534620480	chr1:188769030-188769031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76853922	chr1:188769035-188769036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116005759	chr1:188769043-188769044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533005357	chr1:188769047-188769048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12048577	chr1:188769057-188769058	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs372798947	chr1:188769089-188769090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567515211	chr1:188769155-188769156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536443579	chr1:188769186-188769187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551582934	chr1:188769205-188769206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200109036	chr1:188769206-188769207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553516068	chr1:188769214-188769215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78626788	chr1:188769223-188769224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79815986	chr1:188769224-188769225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545404854	chr1:188769241-188769242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376287594	chr1:188769255-188769256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558643829	chr1:188769310-188769311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370671822	chr1:188769316-188769317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559877943	chr1:188769321-188769322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142878972	chr1:188769322-188769323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544604947	chr1:188769369-188769370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561242021	chr1:188769388-188769389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530269488	chr1:188769396-188769397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73068714	chr1:188769410-188769411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559026275	chr1:188769430-188769431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79244800	chr1:188769437-188769438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146086027	chr1:188769446-188769447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12048701	chr1:188769451-188769452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12059914	chr1:188769467-188769468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148459447	chr1:188769474-188769475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550935843	chr1:188769484-188769485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114181392	chr1:188769552-188769553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531325988	chr1:188769595-188769596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs61832912	chr1:188769634-188769635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183108051	chr1:188769662-188769663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571368728	chr1:188769663-188769664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141720759	chr1:188769705-188769706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74138145	chr1:188769730-188769731	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558986700	chr1:188769770-188769771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75173652	chr1:188769789-188769790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552481852	chr1:188791033-188791034	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs547308465	chr1:188791037-188791038	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs570689742	chr1:188791047-188791048	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs543483244	chr1:188791088-188791089	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs539335912	chr1:188791092-188791093	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs73068732	chr1:188791136-188791137	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569745749	chr1:188791142-188791143	Active TSS	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:188769000-188769600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:188769000-188769800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:188791000-188791400	Active TSS	Fetal Muscle Leg	muscle
4	chr1:188791200-188792000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:188791200-188792200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:188791400-188791600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:188791400-188791800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:188791400-188791800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:188791400-188791800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:188791400-188791800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:188791400-188792000	Enhancers	Fetal Muscle Leg	muscle
12	chr1:188791600-188792000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:188791800-188793200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:188793200-188793600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:188793400-188793800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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