Variant report

Variant	nsv159319
Chromosome Location	chr1:103645616-103655285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 404 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566620774	chr1:103645629-103645630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370501310	chr1:103645637-103645638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114711808	chr1:103645680-103645681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552053482	chr1:103645696-103645697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139863308	chr1:103645784-103645785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78769305	chr1:103645825-103645826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537434096	chr1:103645837-103645838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11288016	chr1:103645854-103645855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529176457	chr1:103645861-103645862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142547422	chr1:103645893-103645894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144791168	chr1:103645962-103645963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535496836	chr1:103646007-103646008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76852025	chr1:103646012-103646013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572553560	chr1:103646038-103646039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147963524	chr1:103646047-103646048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564760492	chr1:103646084-103646085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182439637	chr1:103646085-103646086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188053953	chr1:103646172-103646173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114921336	chr1:103646233-103646234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141890011	chr1:103646234-103646235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6674625	chr1:103646247-103646248	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547825753	chr1:103646257-103646258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560139000	chr1:103646284-103646285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527476154	chr1:103646296-103646297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112421584	chr1:103646305-103646306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192566346	chr1:103646307-103646308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570389785	chr1:103646312-103646313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114595455	chr1:103646324-103646325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56335123	chr1:103646356-103646357	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150479345	chr1:103646385-103646386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184371394	chr1:103646505-103646506	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs548279755	chr1:103646506-103646507	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs566589053	chr1:103646521-103646522	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs549525017	chr1:103646539-103646540	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs56739111	chr1:103646542-103646543	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535035682	chr1:103646553-103646554	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs549013078	chr1:103646574-103646575	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs540022145	chr1:103646585-103646586	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs558355931	chr1:103646693-103646694	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs115431015	chr1:103646698-103646699	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs552207491	chr1:103646725-103646726	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs544053918	chr1:103646789-103646790	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs371163083	chr1:103646825-103646826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145218717	chr1:103646831-103646832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7528984	chr1:103646849-103646850	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs541210260	chr1:103646884-103646885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149125487	chr1:103646911-103646912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60949157	chr1:103646919-103646920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs67504438	chr1:103646921-103646922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs68137445	chr1:103646922-103646923	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:21 , 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	chr1:103644000-103646200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:103644400-103646400	Weak transcription	A549	lung
4	chr1:103646000-103646600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:103646000-103647200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:103646000-103647200	Enhancers	HSMM	muscle
7	chr1:103646000-103647200	Enhancers	NH-A	brain
8	chr1:103646000-103647400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:103646000-103647400	Enhancers	Fetal Heart	heart
10	chr1:103646200-103646600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:103646200-103646600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:103646200-103646600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:103646200-103646600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:103646200-103646600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:103646200-103646600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:103646400-103646800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:103646400-103646800	Active TSS	A549	lung
18	chr1:103646800-103647200	Enhancers	A549	lung
19	chr1:103647200-103659400	Weak transcription	HSMM	muscle
20	chr1:103647400-103647600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:103654800-103656400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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