Variant report

Variant	nsv870727
Chromosome Location	chr1:98322379-98365310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:98355629..98357546-chr1:98364329..98366044,2	K562	blood:
2	chr1:98355629..98357546-chr1:98364329..98366044,2	K562	blood:
3	chr1:98355629..98357274-chr1:98363279..98366044,2	K562	blood:
4	chr1:98355629..98357274-chr1:98363279..98366044,2	K562	blood:
5	chr1:98360000..98361724-chr1:98365980..98368297,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNX7-11	chr1:98321131-98322381	NONHSAT004723

Extended variants
information (count: 1396 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1396 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4379706	chr1:98322379-98322380	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12043951	chr1:98322386-98322387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573246932	chr1:98322395-98322396	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566794379	chr1:98322400-98322401	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542252332	chr1:98322403-98322404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187564990	chr1:98322416-98322417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192561604	chr1:98322469-98322470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544797892	chr1:98322573-98322574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564556756	chr1:98322623-98322624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533584854	chr1:98322755-98322756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535724917	chr1:98322781-98322782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368166047	chr1:98322892-98322893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145573643	chr1:98322938-98322939	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575630678	chr1:98322956-98322957	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147288613	chr1:98322964-98322965	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372028584	chr1:98322989-98322990	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528821342	chr1:98323034-98323035	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548610181	chr1:98323036-98323037	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183891622	chr1:98323046-98323047	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140405908	chr1:98323058-98323059	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74106276	chr1:98323107-98323108	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571320483	chr1:98323157-98323158	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188949941	chr1:98323161-98323162	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11588741	chr1:98323170-98323171	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78231067	chr1:98323178-98323179	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542241816	chr1:98323188-98323189	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151153711	chr1:98323196-98323197	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192227041	chr1:98323198-98323199	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575791078	chr1:98323214-98323215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544343134	chr1:98323229-98323230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145935383	chr1:98323259-98323260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140077787	chr1:98323268-98323269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59403255	chr1:98323358-98323359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533316158	chr1:98323367-98323368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540833162	chr1:98323368-98323369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115044824	chr1:98323370-98323371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368180743	chr1:98323384-98323385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149964377	chr1:98323503-98323504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374482844	chr1:98323544-98323545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539998101	chr1:98323622-98323623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184479994	chr1:98323690-98323691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146523146	chr1:98323697-98323698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201709010	chr1:98323704-98323705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568547413	chr1:98323751-98323752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188797246	chr1:98323753-98323754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74106277	chr1:98323773-98323774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571322709	chr1:98323813-98323814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191779076	chr1:98323827-98323828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144783886	chr1:98323844-98323845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573587776	chr1:98323850-98323851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98303200-98351000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:98309400-98367200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:98311600-98326600	Weak transcription	Gastric	stomach
4	chr1:98311600-98337800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:98311800-98322400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:98311800-98350400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:98312000-98322400	Weak transcription	Liver	Liver
8	chr1:98312000-98324000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:98312000-98324200	Weak transcription	Fetal Thymus	thymus
10	chr1:98312200-98344400	Weak transcription	Fetal Intestine Small	intestine
11	chr1:98315600-98337200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:98315800-98323400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:98315800-98330000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:98315800-98330000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:98315800-98330200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:98315800-98330200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:98315800-98332200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:98316000-98327800	Weak transcription	HMEC	breast
19	chr1:98316200-98327000	Weak transcription	Primary B cells from cord blood	blood
20	chr1:98316400-98330000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:98316400-98330200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:98316400-98330200	Weak transcription	Osteobl	bone
23	chr1:98316400-98346400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:98316400-98348000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:98316400-98349200	Weak transcription	NHDF-Ad	bronchial
26	chr1:98316600-98322800	Weak transcription	HUVEC	blood vessel
27	chr1:98316600-98325400	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:98316600-98332200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:98317200-98330200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:98317800-98330000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:98319000-98330400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:98319800-98329600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:98320000-98329600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:98320000-98330200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:98320200-98323600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr1:98320200-98323600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr1:98320400-98323600	Strong transcription	Primary T cells from cord blood	blood
38	chr1:98320800-98322600	Weak transcription	Adipose Nuclei	Adipose
39	chr1:98320800-98322800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:98320800-98324600	Weak transcription	Lung	lung
41	chr1:98320800-98325600	Weak transcription	Pancreas	Pancrea
42	chr1:98320800-98326000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:98320800-98329800	Weak transcription	Psoas Muscle	Psoas
44	chr1:98320800-98331800	Weak transcription	HSMM	muscle
45	chr1:98320800-98346400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr1:98320800-98351800	Weak transcription	Esophagus	oesophagus
47	chr1:98321000-98323000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:98321000-98324000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:98321000-98324000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:98321000-98325400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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