Variant report

Variant	nsv546862
Chromosome Location	chr1:97681342-97685992
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 167 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1333727	chr1:97681342-97681343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532835797	chr1:97681346-97681347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190686123	chr1:97681363-97681364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567083628	chr1:97681390-97681391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77708741	chr1:97681393-97681394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141277159	chr1:97681413-97681414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114346702	chr1:97681417-97681418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538352970	chr1:97681467-97681468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558325914	chr1:97681491-97681492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578144483	chr1:97681494-97681495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533970259	chr1:97681503-97681504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182700514	chr1:97681548-97681549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541404549	chr1:97681555-97681556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561383974	chr1:97681557-97681558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573069847	chr1:97681559-97681560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542080391	chr1:97681584-97681585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs137911566	chr1:97681588-97681589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575000263	chr1:97681600-97681601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188833897	chr1:97681641-97681642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563684173	chr1:97681645-97681646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563866446	chr1:97681692-97681693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533031091	chr1:97681694-97681695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559278094	chr1:97681741-97681742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546291234	chr1:97681745-97681746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192337372	chr1:97681773-97681774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532751162	chr1:97681779-97681780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182893762	chr1:97681789-97681790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549656088	chr1:97681819-97681820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11400594	chr1:97681847-97681848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76851565	chr1:97681848-97681849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569563262	chr1:97681923-97681924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560836173	chr1:97682001-97682002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6697132	chr1:97682026-97682027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs571806513	chr1:97682126-97682127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187358661	chr1:97682131-97682132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553901032	chr1:97682160-97682161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116375943	chr1:97682212-97682213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535396482	chr1:97682219-97682220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555288226	chr1:97682259-97682260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191851368	chr1:97682310-97682311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60584950	chr1:97682331-97682332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184690885	chr1:97682337-97682338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114915670	chr1:97682338-97682339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141614636	chr1:97682345-97682346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559900985	chr1:97682365-97682366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12046655	chr1:97682376-97682377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs548998831	chr1:97682415-97682416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150593102	chr1:97682472-97682473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532029755	chr1:97682478-97682479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138668415	chr1:97682482-97682483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Malignant melanoma	17260012	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20803296	CNVD
Colorectal cancer	20653680	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97658800-97695600	Weak transcription	Primary B cells from cord blood	blood
2	chr1:97659000-97697000	Weak transcription	Liver	Liver
3	chr1:97659800-97696000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:97660600-97698600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:97663600-97698600	Weak transcription	Primary T cells from cord blood	blood
6	chr1:97666600-97697400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:97678200-97698600	Weak transcription	Left Ventricle	heart
8	chr1:97678400-97697400	Weak transcription	Dnd41	blood
9	chr1:97680400-97685200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr1:97685200-97686200	Strong transcription	Monocytes-CD14+_RO01746	blood

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