Variant report

Variant	nsv947540
Chromosome Location	chr1:103643208-103649306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 281 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568953420	chr1:103643233-103643234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192420360	chr1:103643248-103643249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564353131	chr1:103643333-103643334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554796284	chr1:103643377-103643378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544093112	chr1:103643380-103643381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534003596	chr1:103643411-103643412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145375675	chr1:103643432-103643433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72687257	chr1:103643500-103643501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185558002	chr1:103643505-103643506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190434111	chr1:103643522-103643523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577754557	chr1:103643530-103643531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142535084	chr1:103643545-103643546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7533628	chr1:103643575-103643576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562962811	chr1:103643594-103643595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7536068	chr1:103643595-103643596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542391105	chr1:103643598-103643599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs61815040	chr1:103643624-103643625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541969508	chr1:103643625-103643626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs67444477	chr1:103643626-103643627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61166491	chr1:103643628-103643629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs57806402	chr1:103643630-103643631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141268529	chr1:103643637-103643638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201671607	chr1:103643638-103643639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546336068	chr1:103643661-103643662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565138497	chr1:103643734-103643735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532559058	chr1:103643748-103643749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550898151	chr1:103643751-103643752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146905455	chr1:103643835-103643836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557126804	chr1:103643845-103643846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139308534	chr1:103643848-103643849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370207453	chr1:103643851-103643852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34615806	chr1:103643852-103643853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548582485	chr1:103643891-103643892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143642097	chr1:103643894-103643895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374320657	chr1:103643904-103643905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200298055	chr1:103643964-103643965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11810850	chr1:103643990-103643991	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs181605862	chr1:103643998-103643999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs60582212	chr1:103644051-103644052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186074263	chr1:103644136-103644137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557318427	chr1:103644143-103644144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112065691	chr1:103644156-103644157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542523312	chr1:103644191-103644192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189220025	chr1:103644307-103644308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141912364	chr1:103644324-103644325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540365126	chr1:103644356-103644357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570823721	chr1:103644360-103644361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532596044	chr1:103644364-103644365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544424692	chr1:103644368-103644369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112866165	chr1:103644381-103644382	Weak transcription Enhancers	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	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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103637200-103646000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:103641200-103644000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:103643800-103644400	Enhancers	A549	lung
4	chr1:103644000-103646200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:103644400-103646400	Weak transcription	A549	lung
6	chr1:103646000-103646600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:103646000-103647200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:103646000-103647200	Enhancers	HSMM	muscle
9	chr1:103646000-103647200	Enhancers	NH-A	brain
10	chr1:103646000-103647400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:103646000-103647400	Enhancers	Fetal Heart	heart
12	chr1:103646200-103646600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:103646200-103646600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:103646200-103646600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:103646200-103646600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:103646200-103646600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:103646200-103646600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:103646400-103646800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:103646400-103646800	Active TSS	A549	lung
20	chr1:103646800-103647200	Enhancers	A549	lung
21	chr1:103647200-103659400	Weak transcription	HSMM	muscle
22	chr1:103647400-103647600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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