Variant report

Variant	nsv547996
Chromosome Location	chr1:158725345-158727594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16841038	chr1:158725345-158725346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146158626	chr1:158725348-158725349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112878302	chr1:158725353-158725354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200438657	chr1:158725363-158725364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370719764	chr1:158725367-158725368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572631463	chr1:158725372-158725373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16841042	chr1:158725387-158725388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs149252068	chr1:158725419-158725420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113808037	chr1:158725423-158725424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555253210	chr1:158725426-158725427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576637482	chr1:158725446-158725447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147971883	chr1:158725471-158725472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78251441	chr1:158725490-158725491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139961204	chr1:158725504-158725505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146287264	chr1:158725538-158725539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182482479	chr1:158725556-158725557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149993086	chr1:158725560-158725561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs16841045	chr1:158725564-158725565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559439148	chr1:158725609-158725610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574941449	chr1:158725616-158725617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368421058	chr1:158725648-158725649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199603174	chr1:158725650-158725651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72700594	chr1:158725655-158725656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563534613	chr1:158725682-158725683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59833969	chr1:158725721-158725722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs60341556	chr1:158725722-158725723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs567222836	chr1:158725724-158725725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59553196	chr1:158725733-158725734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186313867	chr1:158725743-158725744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571273881	chr1:158725767-158725768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7540963	chr1:158725776-158725777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145709895	chr1:158725786-158725787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369715331	chr1:158725793-158725794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558050903	chr1:158725823-158725824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149026883	chr1:158725857-158725858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16841047	chr1:158725880-158725881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs537301983	chr1:158725892-158725893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58649816	chr1:158725895-158725896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7529510	chr1:158725913-158725914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564553443	chr1:158725953-158725954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145454680	chr1:158726016-158726017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148863073	chr1:158726075-158726076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545526380	chr1:158726101-158726102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566411735	chr1:158726124-158726125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191257388	chr1:158726152-158726153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183014270	chr1:158726194-158726195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542900608	chr1:158726202-158726203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377722348	chr1:158726232-158726233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188548771	chr1:158726243-158726244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546597232	chr1:158726251-158726252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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
Invasive pancreatic ductal carcinoma	16982739	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	21804112	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21045282	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158692600-158735200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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