Variant report

Variant	nsv947265
Chromosome Location	chr1:67123990-67128598
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 228 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:228 , 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	rs138508321	chr1:67124006-67124007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17129280	chr1:67124045-67124046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560594567	chr1:67124135-67124136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529505663	chr1:67124153-67124154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543281904	chr1:67124159-67124160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536896910	chr1:67124184-67124185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563104004	chr1:67124189-67124190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144071780	chr1:67124219-67124220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552069524	chr1:67124220-67124221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570338946	chr1:67124343-67124344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532794185	chr1:67124346-67124347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144408921	chr1:67124388-67124389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566272236	chr1:67124410-67124411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148393039	chr1:67124420-67124421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371505724	chr1:67124456-67124457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555096134	chr1:67124465-67124466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569054281	chr1:67124499-67124500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373541419	chr1:67124507-67124508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537714444	chr1:67124548-67124549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35191541	chr1:67124606-67124607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114880274	chr1:67124651-67124652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377717463	chr1:67124652-67124653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577935635	chr1:67124663-67124664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540675740	chr1:67124664-67124665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371061292	chr1:67124697-67124698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554295581	chr1:67124716-67124717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4655505	chr1:67124722-67124723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181877349	chr1:67124729-67124730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1014778	chr1:67124736-67124737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs562909183	chr1:67124745-67124746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114524112	chr1:67124790-67124791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116173919	chr1:67124806-67124807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142520677	chr1:67124807-67124808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150523242	chr1:67124810-67124811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80068226	chr1:67124835-67124836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546148181	chr1:67124857-67124858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566134722	chr1:67124874-67124875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1570814	chr1:67124943-67124944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs186952799	chr1:67124945-67124946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189802568	chr1:67124965-67124966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549077929	chr1:67125011-67125012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181249635	chr1:67125015-67125016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34205254	chr1:67125030-67125031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185356334	chr1:67125081-67125082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189827912	chr1:67125096-67125097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540750680	chr1:67125097-67125098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557762656	chr1:67125119-67125120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6666600	chr1:67125183-67125184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs534087739	chr1:67125189-67125190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529399327	chr1:67125190-67125191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
Melanoma	17363583	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	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
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67090400-67155000	Weak transcription	Fetal Heart	heart
2	chr1:67091200-67128000	Weak transcription	NH-A	brain
3	chr1:67100000-67144400	Weak transcription	Left Ventricle	heart
4	chr1:67106200-67143000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:67108000-67136200	Weak transcription	Fetal Brain Female	brain
6	chr1:67109200-67141800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:67109600-67134200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:67109600-67155000	Weak transcription	Brain Anterior Caudate	brain
9	chr1:67110800-67134400	Weak transcription	Brain Substantia Nigra	brain
10	chr1:67111000-67135200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:67111400-67154800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:67114200-67134200	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:67114200-67142000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:67114200-67156400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:67114600-67142200	Weak transcription	NHLF	lung
16	chr1:67118800-67138800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:67118800-67140400	Weak transcription	Aorta	Aorta
18	chr1:67121200-67145400	Weak transcription	Brain Angular Gyrus	brain
19	chr1:67122000-67130000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:67122000-67141200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:67122400-67132600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:67123200-67128600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:67126200-67126600	Enhancers	Fetal Kidney	kidney
24	chr1:67126600-67134800	Weak transcription	Fetal Kidney	kidney

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