Variant report

Variant	nsv946448
Chromosome Location	chr1:159209579-159211067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534301430	chr1:159209602-159209603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74125414	chr1:159209708-159209709	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6656286	chr1:159209752-159209753	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs538310297	chr1:159209817-159209818	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs77209766	chr1:159209845-159209846	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs114272969	chr1:159209865-159209866	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs189105870	chr1:159209888-159209889	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs555778196	chr1:159209925-159209926	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs553983716	chr1:159209980-159209981	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs574117707	chr1:159210001-159210002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367702599	chr1:159210007-159210008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541416278	chr1:159210015-159210016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578155858	chr1:159210063-159210064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545470679	chr1:159210065-159210066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181811087	chr1:159210072-159210073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4656673	chr1:159210127-159210128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186501281	chr1:159210173-159210174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542940752	chr1:159210176-159210177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563058279	chr1:159210226-159210227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545947297	chr1:159210254-159210255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112697915	chr1:159210259-159210260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189356897	chr1:159210299-159210300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181003931	chr1:159210311-159210312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550971726	chr1:159210355-159210356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373015473	chr1:159210380-159210381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570867552	chr1:159210424-159210425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532083436	chr1:159210449-159210450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28393074	chr1:159210489-159210490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550402261	chr1:159210501-159210502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562662287	chr1:159210528-159210529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531718466	chr1:159210540-159210541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570272972	chr1:159210672-159210673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537233627	chr1:159210722-159210723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527705573	chr1:159210730-159210731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138093861	chr1:159210734-159210735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567981673	chr1:159210801-159210802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs16841928	chr1:159210839-159210840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs386635979	chr1:159210840-159210841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114834217	chr1:159210841-159210842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186507224	chr1:159210863-159210864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12095993	chr1:159210880-159210881	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575422182	chr1:159210928-159210929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35912026	chr1:159210948-159210949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542476675	chr1:159210973-159210974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6660102	chr1:159211064-159211065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:110)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	19602461	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159199600-159211800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:159208800-159209600	Flanking Active TSS	GM12878-XiMat	blood
3	chr1:159208800-159210200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:159208800-159210600	Enhancers	HMEC	breast
5	chr1:159209000-159209600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:159209000-159210000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:159209000-159210600	Enhancers	NHEK	skin
8	chr1:159209000-159211000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:159209200-159210200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:159209200-159210200	Enhancers	HUVEC	blood vessel
11	chr1:159209200-159210400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:159209400-159210000	Enhancers	Hela-S3	cervix
13	chr1:159209600-159209800	Enhancers	GM12878-XiMat	blood
14	chr1:159209800-159210000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:159209800-159210000	Flanking Active TSS	GM12878-XiMat	blood
16	chr1:159209800-159211000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:159210000-159210400	Enhancers	GM12878-XiMat	blood
18	chr1:159210200-159217000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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