Variant report

Variant	nsv548555
Chromosome Location	chr1:190503966-190543311
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	chr1:190526777..190529557-chr1:190543201..190545590,2	K562	blood:
2	chr1:190526777..190529557-chr1:190543201..190545590,2	K562	blood:

Extended variants
information (count: 364 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113338510	chr1:190507402-190507403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145712200	chr1:190507414-190507415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs80219029	chr1:190507458-190507459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147326831	chr1:190507479-190507480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550375661	chr1:190507506-190507507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189400513	chr1:190507529-190507530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536238020	chr1:190507551-190507552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553729861	chr1:190507560-190507561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35162242	chr1:190507712-190507713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181931028	chr1:190507729-190507730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539300528	chr1:190507736-190507737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186961314	chr1:190507737-190507738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35744433	chr1:190507821-190507822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377630122	chr1:190507837-190507838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575721295	chr1:190507856-190507857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544711433	chr1:190507878-190507879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554753299	chr1:190507903-190507904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139944466	chr1:190507934-190507935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191799921	chr1:190507962-190507963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374424869	chr1:190507971-190507972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376869097	chr1:190507993-190507994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116218983	chr1:190508024-190508025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544925591	chr1:190508039-190508040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565108174	chr1:190508044-190508045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530584187	chr1:190508111-190508112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34422193	chr1:190508164-190508165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546279165	chr1:190508197-190508198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs36045919	chr1:190508207-190508208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567346756	chr1:190508209-190508210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528472696	chr1:190508218-190508219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546629711	chr1:190508252-190508253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551603478	chr1:190508253-190508254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539341170	chr1:190508307-190508308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182029251	chr1:190508309-190508310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569471759	chr1:190508352-190508353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186370043	chr1:190508354-190508355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555095017	chr1:190508356-190508357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574580655	chr1:190508363-190508364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373607033	chr1:190508365-190508366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533987606	chr1:190508367-190508368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547391043	chr1:190508375-190508376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553749440	chr1:190508386-190508387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565611254	chr1:190508387-190508388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576795770	chr1:190508405-190508406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79233321	chr1:190508449-190508450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565017362	chr1:190508473-190508474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575422367	chr1:190508524-190508525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370940121	chr1:190508567-190508568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544073198	chr1:190508633-190508634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529842472	chr1:190508634-190508635	Enhancers	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190507400-190510800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:190507800-190510200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:190508200-190508800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:190508200-190509600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:190508800-190509200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:190509200-190509600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:190509200-190509800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:190518800-190519000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:190519000-190520400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:190520200-190521800	Enhancers	Brain Germinal Matrix	brain
11	chr1:190520400-190520800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:190520400-190521600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:190520400-190522200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:190520400-190522600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:190520600-190521000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:190520600-190521200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:190520600-190521400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:190520600-190521600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:190520600-190521600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:190520600-190521600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:190520800-190521200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:190521000-190521400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:190521200-190521800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:190527400-190527800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:190527600-190528000	Bivalent/Poised TSS	Liver	Liver
26	chr1:190532000-190532600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:190533400-190533800	Enhancers	Fetal Heart	heart

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