Variant report

Variant	nsv546586
Chromosome Location	chr1:76940156-76982445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1587 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1587 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12124525	chr1:76940156-76940157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs576258530	chr1:76940241-76940242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115465965	chr1:76940258-76940259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555614268	chr1:76940270-76940271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143459536	chr1:76940302-76940303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541206921	chr1:76940358-76940359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183761439	chr1:76940441-76940442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533039513	chr1:76940493-76940494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147977132	chr1:76940502-76940503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76359922	chr1:76940551-76940552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186641147	chr1:76940560-76940561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192612498	chr1:76940593-76940594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535849745	chr1:76940606-76940607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567604949	chr1:76940637-76940638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140677945	chr1:76940745-76940746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555517193	chr1:76940749-76940750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368315611	chr1:76940758-76940759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546780135	chr1:76940789-76940790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114643919	chr1:76940796-76940797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77915751	chr1:76940865-76940866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184642474	chr1:76940889-76940890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76657620	chr1:76940901-76940902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557096197	chr1:76940915-76940916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569197072	chr1:76940916-76940917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536233793	chr1:76940923-76940924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs58266418	chr1:76940927-76940928	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11162159	chr1:76940934-76940935	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190490606	chr1:76940935-76940936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116333446	chr1:76941098-76941099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374456768	chr1:76941099-76941100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs118125293	chr1:76941128-76941129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563153747	chr1:76941287-76941288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79984106	chr1:76941298-76941299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181802074	chr1:76941442-76941443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566058804	chr1:76941450-76941451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539035294	chr1:76941461-76941462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185085718	chr1:76941479-76941480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561285145	chr1:76941480-76941481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528719296	chr1:76941549-76941550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546792653	chr1:76941550-76941551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571475961	chr1:76941558-76941559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544410005	chr1:76941559-76941560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532512298	chr1:76941569-76941570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558270529	chr1:76941579-76941580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150168172	chr1:76941630-76941631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536699577	chr1:76941631-76941632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554995528	chr1:76941673-76941674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138623400	chr1:76941674-76941675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112352314	chr1:76941694-76941695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553226463	chr1:76941787-76941788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
Melanoma	17363583	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76932400-76942400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:76934400-76947200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:76939000-76940400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:76939600-76940200	Enhancers	Adipose Nuclei	Adipose
5	chr1:76940000-76940600	Weak transcription	Fetal Lung	lung
6	chr1:76940800-76941200	Enhancers	Fetal Lung	lung
7	chr1:76942400-76942600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:76942600-76946600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:76943200-76943400	Enhancers	Aorta	Aorta
10	chr1:76943200-76946200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:76945400-76947200	Enhancers	HUVEC	blood vessel
12	chr1:76946000-76948000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:76946200-76946600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:76946200-76946600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr1:76946200-76947000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:76946600-76947000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:76946600-76947400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:76946600-76948000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:76946600-76948000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:76946600-76948200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:76947000-76947600	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:76947000-76947600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:76948000-76960400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:76950400-76950600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:76950600-76960600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:76955800-76956000	Enhancers	Aorta	Aorta
27	chr1:76956000-76960200	Weak transcription	Aorta	Aorta
28	chr1:76957800-76968800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:76958400-76959400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:76959400-76959600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:76959400-76960400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:76959600-76960000	Enhancers	Primary T cells from cord blood	blood
33	chr1:76959600-76960600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:76959600-76961200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:76959800-76960800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:76959800-76960800	Enhancers	HUVEC	blood vessel
37	chr1:76960200-76960800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr1:76960200-76960800	Enhancers	Aorta	Aorta
39	chr1:76960200-76961000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr1:76960400-76960600	Enhancers	Brain Hippocampus Middle	brain
41	chr1:76960400-76960800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:76960400-76960800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:76960400-76960800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:76960400-76961000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:76960400-76961000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:76960400-76961000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr1:76960400-76961000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr1:76960400-76961000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr1:76960400-76961000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr1:76960400-76961200	Enhancers	HUES48 Cell Line	embryonic stem cell

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