Variant report

Variant	nsv548574
Chromosome Location	chr1:190847263-190895591
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:190860555..190863125-chr1:190865070..190867531,2	K562	blood:
2	chr1:190889013..190890903-chr1:190897780..190899545,2	MCF-7	breast:
3	chr1:190844875..190847195-chr1:190856499..190859471,2	MCF-7	breast:
4	chr1:190846680..190849341-chr1:190853076..190854890,2	K562	blood:
5	chr1:190860555..190863125-chr1:190865070..190867531,2	K562	blood:
6	chr1:190868639..190870374-chr1:190872516..190874922,2	K562	blood:
7	chr1:190846680..190849341-chr1:190853076..190854890,2	K562	blood:
8	chr1:190868639..190870374-chr1:190872516..190874922,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-7	chr1:190844364-190848977	NONHSAT008513
2	lnc-FAM5C-7	chr1:190851006-190851215	NONHSAT008513

No data

Extended variants
information (count: 792 )
Associated
traits (count: 91 )

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	rs6684247	chr1:190847263-190847264	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533223904	chr1:190847265-190847266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs550250427	chr1:190847320-190847321	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs531375098	chr1:190847338-190847339	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs181788666	chr1:190847353-190847354	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs10800985	chr1:190847373-190847374	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375210171	chr1:190847424-190847425	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs183664562	chr1:190847429-190847430	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs557760851	chr1:190847509-190847510	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs577717619	chr1:190847579-190847580	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs536705200	chr1:190847591-190847592	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs74673563	chr1:190847621-190847622	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs188278842	chr1:190847637-190847638	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs542833990	chr1:190847643-190847644	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs571285811	chr1:190847644-190847645	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs572767075	chr1:190847672-190847673	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs544922756	chr1:190847691-190847692	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs143151936	chr1:190847705-190847706	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs180792436	chr1:190847732-190847733	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs151164822	chr1:190847734-190847735	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs547040091	chr1:190847741-190847742	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs563591499	chr1:190847761-190847762	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs547963946	chr1:190847791-190847792	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs186519617	chr1:190847792-190847793	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs566301441	chr1:190847849-190847850	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs532304775	chr1:190847888-190847889	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs535290423	chr1:190847978-190847979	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs536560477	chr1:190847999-190848000	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs552115341	chr1:190848006-190848007	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs140221806	chr1:190848106-190848107	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs554931165	chr1:190848112-190848113	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs537094780	chr1:190848124-190848125	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs145208832	chr1:190848155-190848156	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs191273771	chr1:190848258-190848259	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs368281056	chr1:190848276-190848277	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs537275457	chr1:190848304-190848305	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs552722371	chr1:190848306-190848307	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs10920827	chr1:190848317-190848318	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs115913364	chr1:190848420-190848421	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs75475168	chr1:190848428-190848429	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs150549314	chr1:190848469-190848470	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs113230362	chr1:190848471-190848472	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs577937911	chr1:190848473-190848474	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs369002895	chr1:190848476-190848477	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs543832976	chr1:190848655-190848656	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs114914289	chr1:190848666-190848667	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs137890299	chr1:190848680-190848681	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs566397281	chr1:190848681-190848682	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs10800986	chr1:190848743-190848744	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs552098947	chr1:190848746-190848747	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190858200-190858400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:190860600-190860800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:190872200-190873400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:190872600-190873800	Enhancers	NH-A	brain
5	chr1:190872800-190873600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:190873000-190873800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:190873400-190873800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:190873400-190873800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:190873400-190873800	Enhancers	HMEC	breast
10	chr1:190873800-190874000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:190873800-190874800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:190874000-190877600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:190875000-190875200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:190875600-190875800	Enhancers	Colon Smooth Muscle	Colon
15	chr1:190876000-190878400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:190876400-190876600	Enhancers	Colon Smooth Muscle	Colon
17	chr1:190877600-190878400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:190881000-190881400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:190881200-190881400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr1:190884800-190885400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:190885000-190886000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:190885400-190898800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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