Variant report

Variant	nsv947517
Chromosome Location	chr1:195324116-195348365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:195340635..195342790-chr1:195343117..195345385,2	K562	blood:
2	chr1:195342786..195345349-chr1:195347109..195348747,2	K562	blood:
3	chr1:195340635..195342790-chr1:195343117..195345385,2	K562	blood:
4	chr1:195342786..195345349-chr1:195347109..195348747,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537775659	chr1:195334209-195334210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77865121	chr1:195334210-195334211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140386633	chr1:195334239-195334240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200499508	chr1:195334240-195334241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71565592	chr1:195334267-195334268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114230615	chr1:195334270-195334271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199540059	chr1:195334271-195334272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573956427	chr1:195334273-195334274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189300570	chr1:195334398-195334399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553976831	chr1:195334410-195334411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180760174	chr1:195334435-195334436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542480015	chr1:195334492-195334493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186349749	chr1:195334504-195334505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538156029	chr1:195334510-195334511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556355297	chr1:195334537-195334538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373679550	chr1:195334669-195334670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143868008	chr1:195334677-195334678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531717461	chr1:195334691-195334692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544176007	chr1:195334714-195334715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190756798	chr1:195334774-195334775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532763017	chr1:195334786-195334787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547927141	chr1:195334793-195334794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566468505	chr1:195334807-195334808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12757979	chr1:195334829-195334830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115421715	chr1:195334841-195334842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181575069	chr1:195334842-195334843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147249577	chr1:195334891-195334892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186548160	chr1:195334924-195334925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549671413	chr1:195335030-195335031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545978580	chr1:195335038-195335039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200012315	chr1:195335056-195335057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571159377	chr1:195335084-195335085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538478541	chr1:195335086-195335087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371211251	chr1:195335097-195335098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553896565	chr1:195335165-195335166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191829908	chr1:195335179-195335180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536779429	chr1:195335242-195335243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555099619	chr1:195335256-195335257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139006364	chr1:195335270-195335271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375969581	chr1:195335341-195335342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543799089	chr1:195335371-195335372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183194215	chr1:195335402-195335403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565580895	chr1:195335514-195335515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10921840	chr1:195335517-195335518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs541282910	chr1:195335518-195335519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559932735	chr1:195335546-195335547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7523103	chr1:195340871-195340872	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs370190727	chr1:195340879-195340880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184034506	chr1:195340911-195340912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188959829	chr1:195340979-195340980	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	22014070	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195334200-195335600	Enhancers	Dnd41	blood
2	chr1:195334400-195335600	Enhancers	Primary T cells from cord blood	blood
3	chr1:195340800-195341200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:195345600-195346000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:195348000-195348400	Enhancers	Fetal Lung	lung

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