Variant report

Variant	nsv945334
Chromosome Location	chr1:190364120-190366045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:190351763..190353522-chr1:190362451..190364673,2	K562	blood:
2	chr1:190350737..190353263-chr1:190362738..190364673,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548315048	chr1:190364802-190364803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559327920	chr1:190364811-190364812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56037185	chr1:190364915-190364916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561453352	chr1:190365036-190365037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112052013	chr1:190365041-190365042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11810353	chr1:190365096-190365097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570984411	chr1:190365103-190365104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374436810	chr1:190365124-190365125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147370224	chr1:190365125-190365126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367703790	chr1:190365128-190365129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370251227	chr1:190365138-190365139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572993574	chr1:190365180-190365181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532515432	chr1:190365182-190365183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551675873	chr1:190365195-190365196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571478695	chr1:190365255-190365256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571450094	chr1:190365262-190365263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550541027	chr1:190365314-190365315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188595083	chr1:190365315-190365316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538869649	chr1:190365327-190365328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552606279	chr1:190365354-190365355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181674892	chr1:190365398-190365399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548286870	chr1:190365405-190365406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371619647	chr1:190365413-190365414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538231450	chr1:190365415-190365416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553985283	chr1:190365430-190365431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371149796	chr1:190365446-190365447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575883865	chr1:190365455-190365456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185961506	chr1:190365469-190365470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192333962	chr1:190365482-190365483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149202965	chr1:190365571-190365572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540740574	chr1:190365593-190365594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142410495	chr1:190365639-190365640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7545105	chr1:190365640-190365641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs552322393	chr1:190365650-190365651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183655200	chr1:190365665-190365666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530758183	chr1:190365676-190365677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550802717	chr1:190365693-190365694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187380352	chr1:190365717-190365718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536008016	chr1:190365773-190365774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554277542	chr1:190365787-190365788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147918354	chr1:190365819-190365820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566260192	chr1:190365820-190365821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150476705	chr1:190365843-190365844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3077327	chr1:190365869-190365870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12741636	chr1:190365880-190365881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs182141359	chr1:190365922-190365923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543047128	chr1:190365930-190365931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559241972	chr1:190365949-190365950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538712695	chr1:190365959-190365960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200032064	chr1:190366023-190366024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190364800-190365000	Enhancers	Fetal Intestine Small	intestine
2	chr1:190365000-190380200	Weak transcription	Fetal Intestine Small	intestine

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