Variant report

Variant	nsv871806
Chromosome Location	chr1:97855607-97885200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:97855367..97857290-chr1:97859538..97862411,2	MCF-7	breast:
2	chr1:97855367..97857290-chr1:97859538..97862411,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LPPR5.1-1	chr1:97859710-97859975	ENSG00000232542.1

Extended variants
information (count: 1143 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1143 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4495747	chr1:97855607-97855608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72728456	chr1:97855612-97855613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs534673131	chr1:97855650-97855651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547690212	chr1:97855668-97855669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143216826	chr1:97855683-97855684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12082798	chr1:97855685-97855686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139412562	chr1:97855736-97855737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556943016	chr1:97855788-97855789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192186591	chr1:97855820-97855821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4503384	chr1:97855821-97855822	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184493238	chr1:97855871-97855872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7527030	chr1:97855907-97855908	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555312151	chr1:97855928-97855929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575202299	chr1:97855948-97855949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377475075	chr1:97855984-97855985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548990214	chr1:97856024-97856025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12039093	chr1:97856036-97856037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144133763	chr1:97856042-97856043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116298028	chr1:97856071-97856072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546291731	chr1:97856077-97856078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559558635	chr1:97856124-97856125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140846680	chr1:97856139-97856140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149713477	chr1:97856142-97856143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368698005	chr1:97856146-97856147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551398297	chr1:97856190-97856191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567271502	chr1:97856233-97856234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372433564	chr1:97856296-97856297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35349839	chr1:97856333-97856334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76308957	chr1:97856361-97856362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569851229	chr1:97856362-97856363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142422458	chr1:97856432-97856433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558623148	chr1:97856437-97856438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537156789	chr1:97856445-97856446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188160458	chr1:97856471-97856472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146376455	chr1:97856473-97856474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554600208	chr1:97856475-97856476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138986608	chr1:97856483-97856484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7541618	chr1:97856487-97856488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs557652749	chr1:97856490-97856491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577387262	chr1:97856525-97856526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376296340	chr1:97856561-97856562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546031468	chr1:97856562-97856563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199503697	chr1:97856601-97856602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12049600	chr1:97856602-97856603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs571016808	chr1:97856605-97856606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7543999	chr1:97856624-97856625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528565175	chr1:97856639-97856640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541851203	chr1:97856692-97856693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561733095	chr1:97856701-97856702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192869167	chr1:97856729-97856730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Williams Syndrome	20824207	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97831000-97874800	Weak transcription	HSMM	muscle
2	chr1:97832800-97861200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:97837200-97877600	Weak transcription	Adipose Nuclei	Adipose
4	chr1:97846200-97874200	Weak transcription	Primary T cells from cord blood	blood
5	chr1:97846600-97859800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:97846600-97860000	Weak transcription	Liver	Liver
7	chr1:97846600-97886800	Weak transcription	Dnd41	blood
8	chr1:97847200-97912600	Weak transcription	Primary B cells from cord blood	blood
9	chr1:97848400-97860000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr1:97850400-97868600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:97855600-97864600	Weak transcription	Fetal Brain Male	brain
12	chr1:97855800-97856000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:97857800-97858600	Enhancers	HUVEC	blood vessel
14	chr1:97858600-97861400	Weak transcription	HUVEC	blood vessel
15	chr1:97859800-97861400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:97860000-97861000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:97860000-97861400	Strong transcription	Liver	Liver
18	chr1:97861000-97861600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr1:97861200-97861400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr1:97861400-97861600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
21	chr1:97861400-97861600	Strong transcription	Primary hematopoietic stem cells	blood
22	chr1:97861400-97861600	ZNF genes & repeats	Left Ventricle	heart
23	chr1:97861400-97862600	Enhancers	HUVEC	blood vessel
24	chr1:97861400-97873000	Weak transcription	Liver	Liver
25	chr1:97861600-97862200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:97861600-97868600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:97861600-97888600	Weak transcription	Left Ventricle	heart
28	chr1:97861600-97930000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:97865400-97878400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:97867600-97874800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:97867800-97875800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:97868600-97870200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:97868800-97874200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:97868800-97913000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:97869400-97887800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:97870200-97871400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr1:97871000-97878400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:97871400-97871800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr1:97871400-97874200	Weak transcription	Lung	lung
40	chr1:97871800-97873000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr1:97871800-97874200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr1:97872600-97875000	Weak transcription	Fetal Intestine Small	intestine
43	chr1:97872600-97876600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr1:97872600-98014600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:97872800-97912200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:97873000-97874800	Strong transcription	Liver	Liver
47	chr1:97873000-97875600	Weak transcription	Esophagus	oesophagus
48	chr1:97873000-97875600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr1:97873000-97875800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr1:97873000-97885600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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