Variant report

Variant	nsv1000467
Chromosome Location	chr1:112641655-112659834
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:112637048..112640565-chr1:112640927..112645213,4	MCF-7	breast:
2	chr1:112653652..112656343-chr1:112664473..112666963,2	MCF-7	breast:
3	chr1:112650703..112654351-chr1:112656612..112659393,3	K562	blood:
4	chr1:112638968..112641071-chr1:112642921..112645662,2	K562	blood:
5	chr1:112646202..112647038-chr15:76625778..76626625,2	MCF-7	breast:
6	chr1:112636195..112637993-chr1:112640626..112643042,2	MCF-7	breast:
7	chr1:112650703..112654351-chr1:112656612..112659393,3	K562	blood:

Extended variants
information (count: 465 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562819219	chr1:112641812-112641813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533489994	chr1:112641814-112641815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550343234	chr1:112641860-112641861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570191614	chr1:112641861-112641862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140616579	chr1:112641927-112641928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548777484	chr1:112641983-112641984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145749936	chr1:112641984-112641985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534558938	chr1:112641990-112641991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115344095	chr1:112642000-112642001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571555225	chr1:112642013-112642014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536979830	chr1:112642029-112642030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138435667	chr1:112642053-112642054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6537719	chr1:112642056-112642057	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536459667	chr1:112642142-112642143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555399265	chr1:112642205-112642206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11808620	chr1:112642217-112642218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377599300	chr1:112642311-112642312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541022002	chr1:112642344-112642345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141984483	chr1:112642352-112642353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150701772	chr1:112642392-112642393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369576013	chr1:112642393-112642394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562260097	chr1:112642413-112642414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372837310	chr1:112642417-112642418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543790119	chr1:112642432-112642433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs137882906	chr1:112642459-112642460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs118019527	chr1:112642462-112642463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189617280	chr1:112642464-112642465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181914301	chr1:112642465-112642466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559444293	chr1:112642478-112642479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528243124	chr1:112642484-112642485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377654899	chr1:112642507-112642508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551379764	chr1:112642533-112642534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35937035	chr1:112642542-112642543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6699338	chr1:112642631-112642632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10857926	chr1:112642635-112642636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs550565809	chr1:112642636-112642637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551991559	chr1:112642644-112642645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564164956	chr1:112642679-112642680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147164391	chr1:112642756-112642757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536011422	chr1:112642764-112642765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552793437	chr1:112642776-112642777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140357051	chr1:112642811-112642812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534827095	chr1:112642831-112642832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144307797	chr1:112642845-112642846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577931927	chr1:112642856-112642857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147397266	chr1:112642859-112642860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139680079	chr1:112642874-112642875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574278217	chr1:112642875-112642876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114911810	chr1:112642975-112642976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116949677	chr1:112643028-112643029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21509527	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112641800-112642800	Enhancers	Stomach Mucosa	stomach
2	chr1:112642800-112650800	Weak transcription	Stomach Mucosa	stomach
3	chr1:112643200-112643800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:112652400-112653400	Enhancers	Fetal Lung	lung
5	chr1:112652600-112653000	Enhancers	Stomach Mucosa	stomach
6	chr1:112652600-112653400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:112652800-112653200	Enhancers	Adipose Nuclei	Adipose
8	chr1:112652800-112653400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:112653000-112654400	Weak transcription	Stomach Mucosa	stomach
10	chr1:112654400-112655000	Enhancers	Stomach Mucosa	stomach

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