Variant report

Variant	nsv998908
Chromosome Location	chr1:102656181-102850380
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:6)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:102701228..102703682-chr1:102706014..102708929,2	K562	blood:
2	chr1:102285335..102286320-chr1:102656866..102657699,4	MCF-7	breast:
3	chr1:102459133..102459923-chr1:102657241..102657780,2	MCF-7	breast:
4	chr1:102701228..102703682-chr1:102706014..102708929,2	K562	blood:
5	chr1:102816532..102818032-chr6:130363143..130365830,2	MCF-7	breast:
6	chr1:102685538..102686359-chr1:201441216..201441918,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM3-1	chr1:102775825-102775884	XLOC_000943
2	lnc-OLFM3-1	chr1:102830569-102830793	XLOC_000943
3	lnc-OLFM3-1	chr1:102665295-102665553	XLOC_000943
4	lnc-OLFM3-1	chr1:102775826-102775884	XLOC_000943

No data

Variant related genes	Relation type
C1orf103	miRNA target sites
MEST	miRNA target sites

Extended variants
information (count: 595 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:595 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149702266	chr1:102665314-102665315	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs10874550	chr1:102665324-102665325	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs71664925	chr1:102665334-102665335	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs571002143	chr1:102665353-102665354	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs538342600	chr1:102665454-102665455	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs114483741	chr1:102665459-102665460	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs76329107	chr1:102665488-102665489	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs535745563	chr1:102665504-102665505	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs11164412	chr1:102665514-102665515	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs183754605	chr1:102665534-102665535	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs187400579	chr1:102665551-102665552	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs564243628	chr1:102666402-102666403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs114823087	chr1:102666424-102666425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs555163737	chr1:102666426-102666427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs562203692	chr1:102666430-102666431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs529269077	chr1:102666456-102666457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs184398538	chr1:102666521-102666522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs116587953	chr1:102666524-102666525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs188790888	chr1:102666532-102666533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs200279219	chr1:102666539-102666540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs72733697	chr1:102666556-102666557	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569901846	chr1:102666581-102666582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs537290510	chr1:102666582-102666583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs199891379	chr1:102666594-102666595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs555840261	chr1:102666597-102666598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs113325285	chr1:102666605-102666606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs370255987	chr1:102666606-102666607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs146136953	chr1:102666607-102666608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs370111061	chr1:102666608-102666609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs61035077	chr1:102666631-102666632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs142382047	chr1:102666690-102666691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs553692385	chr1:102666694-102666695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs567543703	chr1:102666703-102666704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs181888295	chr1:102666719-102666720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs535064137	chr1:102666732-102666733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs146879107	chr1:102666741-102666742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs139783015	chr1:102666762-102666763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs79545431	chr1:102666764-102666765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs576294914	chr1:102666793-102666794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs184697645	chr1:102667007-102667008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567775779	chr1:102667020-102667021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189338988	chr1:102667038-102667039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535503033	chr1:102667099-102667100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201356172	chr1:102667104-102667105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553612554	chr1:102667106-102667107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565652671	chr1:102667118-102667119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539479506	chr1:102667136-102667137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs180837186	chr1:102667165-102667166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576357072	chr1:102667191-102667192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372073278	chr1:102667288-102667289	Enhancers	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102666400-102666800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:102666400-102666800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr1:102667000-102667400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:102676600-102677000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:102676800-102677600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:102698600-102699000	Enhancers	Dnd41	blood
7	chr1:102699000-102700400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:102699600-102700800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:102700400-102700800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:102700400-102701000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:102707200-102707800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:102707200-102707800	Enhancers	GM12878-XiMat	blood
13	chr1:102718000-102719200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:102718400-102719400	Enhancers	Fetal Heart	heart
15	chr1:102728400-102728800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:102749400-102749800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:102749800-102750800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:102750800-102751400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:102778200-102778600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr1:102791800-102792000	Enhancers	Pancreas	Pancrea
21	chr1:102818200-102818800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:102828200-102828600	Enhancers	HUVEC	blood vessel
23	chr1:102845800-102846200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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