Variant report

Variant	nsv546901
Chromosome Location	chr1:102608577-102717010
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:5)
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	chr1:102459133..102459923-chr1:102657241..102657780,2	MCF-7	breast:
2	chr1:102701228..102703682-chr1:102706014..102708929,2	K562	blood:
3	chr1:102701228..102703682-chr1:102706014..102708929,2	K562	blood:
4	chr1:54418703..54421611-chr1:102613977..102616372,3	MCF-7	breast:
5	chr1:102285335..102286320-chr1:102656866..102657699,4	MCF-7	breast:
6	chr1:102685538..102686359-chr1:201441216..201441918,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM3-3	chr1:102625506-102625565	NONHSAT004870
2	lnc-OLFM3-3	chr1:102626679-102626773	NONHSAT004870
3	lnc-OLFM3-3	chr1:102625349-102625395	NONHSAT004870
4	lnc-OLFM3-3	chr1:102627638-102627774	NONHSAT004870
5	lnc-OLFM3-1	chr1:102665295-102665553	XLOC_000943

No data

Variant related genes	Relation type
MEST	miRNA target sites

Extended variants
information (count: 792 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:792 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9434280	chr1:102612004-102612005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115869727	chr1:102612031-102612032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139146533	chr1:102612049-102612050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139582481	chr1:102612077-102612078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184421161	chr1:102612079-102612080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550855955	chr1:102612104-102612105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569178957	chr1:102612131-102612132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1938345	chr1:102612176-102612177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376009903	chr1:102612663-102612664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12042099	chr1:102612712-102612713	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144172378	chr1:102612724-102612725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537513556	chr1:102612772-102612773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569141633	chr1:102612803-102612804	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530040227	chr1:102612876-102612877	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185382784	chr1:102612881-102612882	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147380871	chr1:102612937-102612938	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534026740	chr1:102612965-102612966	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558586531	chr1:102612979-102612980	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570615357	chr1:102613024-102613025	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs11802701	chr1:102613057-102613058	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs189648717	chr1:102613067-102613068	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs6692321	chr1:102613104-102613105	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs12073670	chr1:102613188-102613189	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557396328	chr1:102613195-102613196	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs575715885	chr1:102613233-102613234	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs572557688	chr1:102613253-102613254	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs186708377	chr1:102613272-102613273	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs6669038	chr1:102613307-102613308	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs190330128	chr1:102613330-102613331	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs544214359	chr1:102613413-102613414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114301369	chr1:102613419-102613420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115241079	chr1:102613447-102613448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548505479	chr1:102613458-102613459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566663785	chr1:102613477-102613478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527435116	chr1:102613497-102613498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181139798	chr1:102613498-102613499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570596671	chr1:102613508-102613509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577157643	chr1:102613514-102613515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543596315	chr1:102613528-102613529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186124317	chr1:102613530-102613531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528188109	chr1:102619605-102619606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115281384	chr1:102619609-102619610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546519938	chr1:102619621-102619622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550808863	chr1:102619650-102619651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184727739	chr1:102619655-102619656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2339209	chr1:102619689-102619690	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538937463	chr1:102619705-102619706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548103930	chr1:102619710-102619711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566613978	chr1:102619716-102619717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534056616	chr1:102619726-102619727	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
low-grade B-cell lymphoma tumor	18367492	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
Schizophrenia	20967226	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102612000-102612200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr1:102612600-102613200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:102612800-102613200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr1:102612800-102613200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:102612800-102613400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:102612800-102613400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:102613000-102613600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr1:102613200-102613400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:102619600-102619800	Enhancers	Fetal Intestine Small	intestine
10	chr1:102619800-102620800	Weak transcription	Fetal Intestine Small	intestine
11	chr1:102620200-102620400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:102620600-102621800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:102620800-102621600	Enhancers	Fetal Intestine Large	intestine
14	chr1:102620800-102622000	Enhancers	Fetal Intestine Small	intestine
15	chr1:102621800-102622200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:102622200-102626600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:102626200-102627200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:102626400-102628400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:102626400-102628400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:102626600-102627000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:102626600-102627200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:102626600-102627400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:102627200-102628200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:102627400-102628200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:102628200-102628400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:102634200-102634800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:102648600-102649200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:102649200-102649600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:102649600-102651400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:102666400-102666800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:102666400-102666800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr1:102667000-102667400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:102676600-102677000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:102676800-102677600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:102698600-102699000	Enhancers	Dnd41	blood
36	chr1:102699000-102700400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:102699600-102700800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:102700400-102700800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:102700400-102701000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:102707200-102707800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:102707200-102707800	Enhancers	GM12878-XiMat	blood

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