Variant report

Variant	nsv933484
Chromosome Location	chr1:103440159-103445296
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:103435891..103438484-chr1:103439465..103441994,2	K562	blood:

Extended variants
information (count: 210 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368420835	chr1:103440182-103440183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543217039	chr1:103440218-103440219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560757419	chr1:103440249-103440250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189189126	chr1:103440275-103440276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181551026	chr1:103440314-103440315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368422725	chr1:103440390-103440391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200778266	chr1:103440404-103440405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372062790	chr1:103440410-103440411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200115284	chr1:103440416-103440417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375398395	chr1:103440426-103440427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139911745	chr1:103440428-103440429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368013769	chr1:103440445-103440446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371275890	chr1:103440453-103440454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539467790	chr1:103440471-103440472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs41301263	chr1:103440497-103440498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569692648	chr1:103440503-103440504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537161205	chr1:103440551-103440552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555971586	chr1:103440583-103440584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574313517	chr1:103440593-103440594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2615992	chr1:103440633-103440634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541731709	chr1:103440676-103440677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2615993	chr1:103440737-103440738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553673914	chr1:103440784-103440785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578188102	chr1:103440789-103440790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187386132	chr1:103440797-103440798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563545576	chr1:103440817-103440818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530885268	chr1:103440821-103440822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371961552	chr1:103440822-103440823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs67291141	chr1:103440837-103440838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35123438	chr1:103440838-103440839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542741568	chr1:103440868-103440869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192283842	chr1:103440872-103440873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561528688	chr1:103440885-103440886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529092567	chr1:103440893-103440894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183650291	chr1:103440894-103440895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565920367	chr1:103440956-103440957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186124667	chr1:103440970-103440971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566057516	chr1:103440992-103440993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201358675	chr1:103441006-103441007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537124404	chr1:103441009-103441010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189602384	chr1:103441024-103441025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555536860	chr1:103441054-103441055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182631861	chr1:103441093-103441094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535176770	chr1:103441095-103441096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553299315	chr1:103441118-103441119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375030468	chr1:103441233-103441234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578169094	chr1:103441234-103441235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17447925	chr1:103441275-103441276	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186943044	chr1:103441279-103441280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112227719	chr1:103441365-103441366	Weak transcription Strong transcription	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103369600-103498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:103386200-103482000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:103400200-103444200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:103400200-103462000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:103400800-103444200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:103405800-103444200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:103415800-103485200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:103423000-103468200	Weak transcription	HSMMtube	muscle
9	chr1:103423800-103476000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:103425000-103478000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:103427000-103451400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:103427400-103452400	Weak transcription	NH-A	brain
13	chr1:103430200-103440600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:103432600-103457400	Weak transcription	Fetal Heart	heart
15	chr1:103433800-103442800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:103434600-103440800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:103435200-103442400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:103435400-103452200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:103435800-103446200	Weak transcription	HSMM	muscle
20	chr1:103440600-103444200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:103440800-103443000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:103442400-103445000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:103442600-103453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:103442800-103446800	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:103443000-103445400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:103444200-103444600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:103444200-103445000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:103444200-103445000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:103444200-103446800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:103444600-103444800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:103444800-103453200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:103445000-103448600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:103445000-103448800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:103445000-103458600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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