Variant report

Variant	nsv526337
Chromosome Location	chr1:103636607-103704266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2381 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:2381 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1358459	chr1:103636607-103636608	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563603599	chr1:103636682-103636683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143465756	chr1:103636698-103636699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146676991	chr1:103636699-103636700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs66538321	chr1:103636730-103636731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530846843	chr1:103636792-103636793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116708605	chr1:103636798-103636799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530839544	chr1:103636830-103636831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541229225	chr1:103636846-103636847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112897240	chr1:103636879-103636880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181267361	chr1:103636880-103636881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373147473	chr1:103636942-103636943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377754953	chr1:103636945-103636946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546421955	chr1:103637051-103637052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571308540	chr1:103637060-103637061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532627016	chr1:103637072-103637073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550787717	chr1:103637124-103637125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569077438	chr1:103637130-103637131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536560594	chr1:103637178-103637179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545188812	chr1:103637181-103637182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7514256	chr1:103637183-103637184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549047263	chr1:103637201-103637202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566573317	chr1:103637222-103637223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561119409	chr1:103637380-103637381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534190175	chr1:103637417-103637418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72991548	chr1:103637478-103637479	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374290010	chr1:103637526-103637527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs57799890	chr1:103637551-103637552	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557208231	chr1:103637556-103637557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145346531	chr1:103637579-103637580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144926273	chr1:103637623-103637624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535459497	chr1:103637660-103637661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148984891	chr1:103637669-103637670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184913510	chr1:103637679-103637680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188061431	chr1:103637691-103637692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370767715	chr1:103637784-103637785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1406129	chr1:103637793-103637794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555309050	chr1:103637818-103637819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35690120	chr1:103637819-103637820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4013843	chr1:103637821-103637822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550223305	chr1:103637822-103637823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34862674	chr1:103637823-103637824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71671146	chr1:103637824-103637825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1406127	chr1:103637932-103637933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs530229313	chr1:103637942-103637943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548513794	chr1:103637958-103637959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567139418	chr1:103637969-103637970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12723908	chr1:103637979-103637980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552561611	chr1:103637990-103637991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370243295	chr1:103638016-103638017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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	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
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103636400-103636800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:103636400-103637000	Enhancers	HSMM	muscle
3	chr1:103636400-103637000	Enhancers	HSMMtube	muscle
4	chr1:103636400-103637200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:103636400-103637200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:103636400-103637600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:103636400-103637600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:103637200-103646000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:103637600-103641200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:103641200-103644000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:103643800-103644400	Enhancers	A549	lung
12	chr1:103644000-103646200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:103644400-103646400	Weak transcription	A549	lung
14	chr1:103646000-103646600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:103646000-103647200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:103646000-103647200	Enhancers	HSMM	muscle
17	chr1:103646000-103647200	Enhancers	NH-A	brain
18	chr1:103646000-103647400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:103646000-103647400	Enhancers	Fetal Heart	heart
20	chr1:103646200-103646600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:103646200-103646600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:103646200-103646600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:103646200-103646600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:103646200-103646600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:103646200-103646600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:103646400-103646800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:103646400-103646800	Active TSS	A549	lung
28	chr1:103646800-103647200	Enhancers	A549	lung
29	chr1:103647200-103659400	Weak transcription	HSMM	muscle
30	chr1:103647400-103647600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:103654800-103656400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:103656400-103656800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:103656600-103657000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:103656600-103657000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:103656600-103657200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:103656600-103657400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:103656800-103657000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:103656800-103657200	Enhancers	Fetal Heart	heart
39	chr1:103657000-103659000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:103657000-103659400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:103657200-103657400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:103657200-103659600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:103657600-103659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:103659000-103659200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:103659000-103661400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:103659200-103659600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:103659400-103660000	Enhancers	HSMM	muscle
48	chr1:103659400-103660200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:103659400-103660200	Enhancers	NH-A	brain
50	chr1:103659400-103660400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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