Variant report

Variant	nsv870987
Chromosome Location	chr1:103155901-103267759
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	chr1:103189403..103191719-chr1:103196207..103198295,2	MCF-7	breast:
3	chr1:103259174..103259873-chr1:103435676..103436665,2	MCF-7	breast:

Extended variants
information (count: 1834 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1834 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557897939	chr1:103163400-103163401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576249551	chr1:103163428-103163429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544008437	chr1:103163465-103163466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562300135	chr1:103163466-103163467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148241090	chr1:103163468-103163469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75533722	chr1:103163488-103163489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576341792	chr1:103163549-103163550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551441202	chr1:103163553-103163554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541731182	chr1:103163554-103163555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75429183	chr1:103163610-103163611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs60079737	chr1:103163664-103163665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147428744	chr1:103163671-103163672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs137921351	chr1:103163697-103163698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530941750	chr1:103163714-103163715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549550566	chr1:103163732-103163733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143372605	chr1:103163735-103163736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535361880	chr1:103163736-103163737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12143735	chr1:103163749-103163750	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192825539	chr1:103163756-103163757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552166837	chr1:103163758-103163759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539433170	chr1:103163765-103163766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147172730	chr1:103163772-103163773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562489784	chr1:103163783-103163784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185263400	chr1:103163792-103163793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140362675	chr1:103163808-103163809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531216474	chr1:103163835-103163836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12022521	chr1:103163844-103163845	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs574179944	chr1:103163848-103163849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149688025	chr1:103163857-103163858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559984846	chr1:103163859-103163860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567846505	chr1:103163871-103163872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536399859	chr1:103163879-103163880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12022548	chr1:103163881-103163882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563377661	chr1:103163907-103163908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530879316	chr1:103163913-103163914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188530169	chr1:103163920-103163921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577556916	chr1:103163956-103163957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114288149	chr1:103163993-103163994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116359530	chr1:103163995-103163996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567175611	chr1:103198411-103198412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533912805	chr1:103198446-103198447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76703599	chr1:103198455-103198456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10782903	chr1:103198459-103198460	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544689033	chr1:103198478-103198479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143548960	chr1:103198482-103198483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575054377	chr1:103198488-103198489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542416192	chr1:103198495-103198496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560819251	chr1:103198541-103198542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553186923	chr1:103198546-103198547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146781604	chr1:103198559-103198560	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103163400-103164000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr1:103198400-103199400	Enhancers	HSMM	muscle
3	chr1:103198400-103199400	Enhancers	HSMMtube	muscle
4	chr1:103198600-103199600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:103199000-103199200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:103200200-103200400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:103200400-103202000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:103202000-103202200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:103202200-103203000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:103203000-103203600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:103203600-103204400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:103204400-103204600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:103205400-103206200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:103205600-103206000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:103206200-103207800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:103207800-103208800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:103208200-103208600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:103212600-103213200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:103212800-103218400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:103218400-103218800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:103218800-103233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:103229000-103229400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:103229400-103229800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:103229800-103231400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:103233000-103233200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:103233200-103243200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:103238200-103238600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:103238600-103241600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:103240000-103240800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:103240000-103240800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:103240000-103241000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:103240200-103240400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:103240200-103240600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:103240200-103240600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:103240200-103240600	Active TSS	Brain Hippocampus Middle	brain
36	chr1:103240200-103240600	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr1:103240200-103240600	Active TSS	Brain Substantia Nigra	brain
38	chr1:103240200-103240600	Active TSS	Psoas Muscle	Psoas
39	chr1:103240200-103240600	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr1:103240200-103240600	Active TSS	Hela-S3	cervix
41	chr1:103240200-103240600	Active TSS	HMEC	breast
42	chr1:103240200-103240600	Active TSS	HSMMtube	muscle
43	chr1:103240200-103240600	Active TSS	HUVEC	blood vessel
44	chr1:103240200-103240800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:103240200-103240800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:103240200-103240800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:103240200-103240800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:103240200-103240800	Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:103240200-103240800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:103240200-103240800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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