Variant report

Variant	nsv546909
Chromosome Location	chr1:102684733-102846147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:102701228..102703682-chr1:102706014..102708929,2	K562	blood:
2	chr1:102816532..102818032-chr6:130363143..130365830,2	MCF-7	breast:
3	chr1:102701228..102703682-chr1:102706014..102708929,2	K562	blood:
4	chr1:102685538..102686359-chr1:201441216..201441918,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM3-1	chr1:102830569-102830793	XLOC_000943
2	lnc-OLFM3-1	chr1:102775826-102775884	XLOC_000943
3	lnc-OLFM3-1	chr1:102775825-102775884	XLOC_000943

No data

Variant related genes	Relation type
C1orf103	miRNA target sites

Extended variants
information (count: 494 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:494 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371750972	chr1:102698607-102698608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559086390	chr1:102698627-102698628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376506904	chr1:102698628-102698629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186940537	chr1:102698643-102698644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114557468	chr1:102698648-102698649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191358317	chr1:102698654-102698655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549026016	chr1:102698706-102698707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563796145	chr1:102698708-102698709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530846405	chr1:102698757-102698758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376970480	chr1:102698805-102698806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199879126	chr1:102698808-102698809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539505006	chr1:102698816-102698817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549339551	chr1:102698823-102698824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs57783362	chr1:102698884-102698885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559782144	chr1:102698897-102698898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374475679	chr1:102698925-102698926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535302985	chr1:102698951-102698952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142547017	chr1:102698990-102698991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571822852	chr1:102698997-102698998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12043420	chr1:102699037-102699038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs367991733	chr1:102699074-102699075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557608618	chr1:102699106-102699107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114631449	chr1:102699108-102699109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555677484	chr1:102699109-102699110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536674603	chr1:102699123-102699124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555313922	chr1:102699139-102699140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10874559	chr1:102699143-102699144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531265765	chr1:102699164-102699165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540885227	chr1:102699180-102699181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559123646	chr1:102699210-102699211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577459680	chr1:102699245-102699246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545174648	chr1:102699255-102699256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549581321	chr1:102699259-102699260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531009189	chr1:102699260-102699261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116275208	chr1:102699270-102699271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144774682	chr1:102699281-102699282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529055289	chr1:102699295-102699296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547702663	chr1:102699306-102699307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528800022	chr1:102699310-102699311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547364501	chr1:102699313-102699314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571959390	chr1:102699365-102699366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12047970	chr1:102699382-102699383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551132353	chr1:102699393-102699394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368834577	chr1:102699411-102699412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564097934	chr1:102699428-102699429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12731867	chr1:102699430-102699431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs184876278	chr1:102699449-102699450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12144429	chr1:102699465-102699466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs72735546	chr1:102699467-102699468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs147929693	chr1:102699471-102699472	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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102698600-102699000	Enhancers	Dnd41	blood
2	chr1:102699000-102700400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:102699600-102700800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:102700400-102700800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:102700400-102701000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:102707200-102707800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:102707200-102707800	Enhancers	GM12878-XiMat	blood
8	chr1:102718000-102719200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:102718400-102719400	Enhancers	Fetal Heart	heart
10	chr1:102728400-102728800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:102749400-102749800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:102749800-102750800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:102750800-102751400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:102778200-102778600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:102791800-102792000	Enhancers	Pancreas	Pancrea
16	chr1:102818200-102818800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:102828200-102828600	Enhancers	HUVEC	blood vessel
18	chr1:102845800-102846200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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