Variant report

Variant	nsv546926
Chromosome Location	chr1:103183066-103267759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:103189403..103191719-chr1:103196207..103198295,2	MCF-7	breast:
2	chr1:103259174..103259873-chr1:103435676..103436665,2	MCF-7	breast:
3	chr1:103189403..103191719-chr1:103196207..103198295,2	MCF-7	breast:

Extended variants
information (count: 1795 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1795 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567175611	chr1:103198411-103198412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533912805	chr1:103198446-103198447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76703599	chr1:103198455-103198456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10782903	chr1:103198459-103198460	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544689033	chr1:103198478-103198479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143548960	chr1:103198482-103198483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575054377	chr1:103198488-103198489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542416192	chr1:103198495-103198496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560819251	chr1:103198541-103198542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553186923	chr1:103198546-103198547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146781604	chr1:103198559-103198560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80337181	chr1:103198560-103198561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539207886	chr1:103198634-103198635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77766481	chr1:103198672-103198673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116732417	chr1:103198681-103198682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150427950	chr1:103198761-103198762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192624993	chr1:103198808-103198809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558051514	chr1:103198842-103198843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183737277	chr1:103198855-103198856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138055727	chr1:103198895-103198896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576244418	chr1:103198936-103198937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375237994	chr1:103198950-103198951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541405961	chr1:103198953-103198954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534493006	chr1:103198970-103198971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188317771	chr1:103198985-103198986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543828709	chr1:103199052-103199053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570814208	chr1:103199053-103199054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537859338	chr1:103199079-103199080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369303174	chr1:103199113-103199114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573114011	chr1:103199159-103199160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561747205	chr1:103199161-103199162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193282348	chr1:103199167-103199168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184701872	chr1:103199183-103199184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573838857	chr1:103199203-103199204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564349522	chr1:103199250-103199251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189164057	chr1:103199290-103199291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149074853	chr1:103199318-103199319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540520343	chr1:103199379-103199380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191289732	chr1:103199389-103199390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545228770	chr1:103199416-103199417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77197106	chr1:103199440-103199441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78189551	chr1:103199463-103199464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529829889	chr1:103199544-103199545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143196836	chr1:103199588-103199589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12131248	chr1:103199589-103199590	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs549795356	chr1:103200214-103200215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565047776	chr1:103200275-103200276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559998865	chr1:103200282-103200283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568051872	chr1:103200298-103200299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527837535	chr1:103200320-103200321	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103198400-103199400	Enhancers	HSMM	muscle
2	chr1:103198400-103199400	Enhancers	HSMMtube	muscle
3	chr1:103198600-103199600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:103199000-103199200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:103200200-103200400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:103200400-103202000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:103202000-103202200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:103202200-103203000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:103203000-103203600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:103203600-103204400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:103204400-103204600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:103205400-103206200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:103205600-103206000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:103206200-103207800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:103207800-103208800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:103208200-103208600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:103212600-103213200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:103212800-103218400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:103218400-103218800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:103218800-103233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:103229000-103229400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:103229400-103229800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:103229800-103231400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:103233000-103233200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:103233200-103243200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:103238200-103238600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:103238600-103241600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:103240000-103240800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:103240000-103240800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:103240000-103241000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:103240200-103240400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:103240200-103240600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:103240200-103240600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:103240200-103240600	Active TSS	Brain Hippocampus Middle	brain
35	chr1:103240200-103240600	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr1:103240200-103240600	Active TSS	Brain Substantia Nigra	brain
37	chr1:103240200-103240600	Active TSS	Psoas Muscle	Psoas
38	chr1:103240200-103240600	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr1:103240200-103240600	Active TSS	Hela-S3	cervix
40	chr1:103240200-103240600	Active TSS	HMEC	breast
41	chr1:103240200-103240600	Active TSS	HSMMtube	muscle
42	chr1:103240200-103240600	Active TSS	HUVEC	blood vessel
43	chr1:103240200-103240800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:103240200-103240800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:103240200-103240800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:103240200-103240800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:103240200-103240800	Active TSS	Muscle Satellite Cultured Cells	--
48	chr1:103240200-103240800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:103240200-103240800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:103240200-103240800	Active TSS	Brain Angular Gyrus	brain

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