Variant report

Variant	nsv872766
Chromosome Location	chr1:190472727-190514183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:190476606..190478933-chr1:190479727..190481548,2	MCF-7	breast:
2	chr1:190481525..190484334-chr1:190501308..190503770,2	K562	blood:
3	chr1:190476606..190478933-chr1:190479727..190481548,2	MCF-7	breast:
4	chr1:190481525..190484334-chr1:190501308..190503770,2	K562	blood:

Extended variants
information (count: 234 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535113382	chr1:190480011-190480012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570068450	chr1:190480028-190480029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574547306	chr1:190480036-190480037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190984861	chr1:190480086-190480087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146292521	chr1:190480088-190480089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112903027	chr1:190480103-190480104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183128678	chr1:190480142-190480143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536807721	chr1:190480144-190480145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577834222	chr1:190480238-190480239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556522215	chr1:190480252-190480253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78394834	chr1:190480282-190480283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78775629	chr1:190480291-190480292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542699909	chr1:190480294-190480295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369307699	chr1:190480297-190480298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559758183	chr1:190480331-190480332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532609031	chr1:190480335-190480336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576046837	chr1:190480336-190480337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185379326	chr1:190480338-190480339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116253595	chr1:190480344-190480345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553971383	chr1:190480365-190480366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190582944	chr1:190480376-190480377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532985006	chr1:190480397-190480398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549906002	chr1:190480401-190480402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139636918	chr1:190480509-190480510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572142092	chr1:190480557-190480558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142859872	chr1:190480569-190480570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548732109	chr1:190480596-190480597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565321415	chr1:190480629-190480630	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs370896281	chr1:190480660-190480661	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs118067082	chr1:190480693-190480694	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs2068340	chr1:190480719-190480720	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182760966	chr1:190480772-190480773	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs12096714	chr1:190480806-190480807	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs557526129	chr1:190480825-190480826	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs2068341	chr1:190480837-190480838	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562758169	chr1:190480877-190480878	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs187787568	chr1:190480955-190480956	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs193010704	chr1:190480970-190480971	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs184037838	chr1:190480998-190480999	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs187741668	chr1:190480999-190481000	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs149969281	chr1:190481014-190481015	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542985102	chr1:190481023-190481024	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147641769	chr1:190481024-190481025	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577859000	chr1:190481046-190481047	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543836726	chr1:190481055-190481056	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61141105	chr1:190481058-190481059	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs67159849	chr1:190481059-190481060	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12082721	chr1:190481061-190481062	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375679464	chr1:190481071-190481072	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201911269	chr1:190481139-190481140	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190480000-190480800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:190480200-190481600	Enhancers	Fetal Heart	heart
3	chr1:190480600-190481000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:190480600-190481000	Active TSS	Brain Anterior Caudate	brain
5	chr1:190480800-190481400	Active TSS	Brain Cingulate Gyrus	brain
6	chr1:190501800-190502600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:190507400-190510800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:190507800-190510200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:190508200-190508800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:190508200-190509600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:190508800-190509200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:190509200-190509600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:190509200-190509800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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