Variant report

Variant	nsv870285
Chromosome Location	chr1:102404415-102439185
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	chr1:102434316..102436694-chr1:102437372..102439039,2	K562	blood:
2	chr1:102434316..102436694-chr1:102437372..102439039,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM3-3	chr1:102437883-102438141	NONHSAT004870

Extended variants
information (count: 531 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:531 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138559919	chr1:102410634-102410635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187047502	chr1:102410680-102410681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554883303	chr1:102410688-102410689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190088209	chr1:102410698-102410699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115712430	chr1:102410719-102410720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149297008	chr1:102410755-102410756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377579439	chr1:102410787-102410788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560784538	chr1:102410806-102410807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577649858	chr1:102410823-102410824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72991680	chr1:102410834-102410835	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563268858	chr1:102410853-102410854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72991683	chr1:102410878-102410879	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144646878	chr1:102410914-102410915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386633966	chr1:102410928-102410929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200429263	chr1:102410931-102410932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546791264	chr1:102410939-102410940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186563039	chr1:102410966-102410967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191023411	chr1:102411020-102411021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11164342	chr1:102411031-102411032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376925503	chr1:102411039-102411040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568902748	chr1:102411041-102411042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78075366	chr1:102411058-102411059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148477555	chr1:102411075-102411076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567168171	chr1:102411112-102411113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs5007371	chr1:102411122-102411123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550447254	chr1:102411136-102411137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559085956	chr1:102411139-102411140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12034639	chr1:102411147-102411148	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538725776	chr1:102411163-102411164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1336786	chr1:102411194-102411195	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1336787	chr1:102411237-102411238	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs1336788	chr1:102411258-102411259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560992620	chr1:102411287-102411288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373980312	chr1:102411312-102411313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573079215	chr1:102411315-102411316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182307868	chr1:102411331-102411332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs61803497	chr1:102411362-102411363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144003812	chr1:102411605-102411606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566780084	chr1:102411671-102411672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185148328	chr1:102411690-102411691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114641911	chr1:102411700-102411701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145931091	chr1:102411710-102411711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4596922	chr1:102411723-102411724	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs557063194	chr1:102411724-102411725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568987648	chr1:102411735-102411736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111706466	chr1:102411754-102411755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71872186	chr1:102411755-102411756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60378430	chr1:102411757-102411758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542464989	chr1:102411771-102411772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536389120	chr1:102411797-102411798	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
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102410600-102411400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:102410800-102411400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:102411600-102412000	Enhancers	Fetal Lung	lung
4	chr1:102416400-102417200	Enhancers	Stomach Mucosa	stomach
5	chr1:102419000-102420200	Enhancers	Fetal Heart	heart
6	chr1:102423800-102424600	Enhancers	Dnd41	blood
7	chr1:102424600-102424800	Flanking Active TSS	Dnd41	blood
8	chr1:102424600-102425200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:102424600-102425400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:102424800-102425000	Enhancers	Dnd41	blood
11	chr1:102425000-102425200	Enhancers	Brain Angular Gyrus	brain
12	chr1:102425000-102425200	Flanking Active TSS	Dnd41	blood
13	chr1:102425200-102426000	Weak transcription	Brain Angular Gyrus	brain
14	chr1:102425200-102426000	Enhancers	Dnd41	blood
15	chr1:102425200-102427200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:102425400-102427000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:102425600-102426000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:102426000-102426200	Enhancers	Brain Angular Gyrus	brain
19	chr1:102426000-102427200	Weak transcription	Dnd41	blood
20	chr1:102427000-102428200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:102427200-102427600	Enhancers	Dnd41	blood
22	chr1:102427200-102428000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:102427600-102429000	Weak transcription	Dnd41	blood
24	chr1:102428200-102430400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:102429000-102431400	Enhancers	Dnd41	blood
26	chr1:102429600-102432000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:102429800-102432400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:102430400-102430800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:102430400-102430800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:102430400-102431000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:102430400-102432000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:102430600-102431000	Enhancers	Fetal Stomach	stomach
33	chr1:102433200-102433600	Enhancers	GM12878-XiMat	blood
34	chr1:102436000-102436600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:102438800-102439200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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