Variant report

Variant	nsv999490
Chromosome Location	chr1:105105338-105173095
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	chr1:105128438..105130994-chr1:105132786..105134781,2	K562	blood:
2	chr1:105128438..105130994-chr1:105132786..105134781,2	K562	blood:

Extended variants
information (count: 1148 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1148 , 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	rs549083896	chr1:105108805-105108806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557598545	chr1:105108811-105108812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534721969	chr1:105108816-105108817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367903073	chr1:105108840-105108841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150092708	chr1:105108843-105108844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147155878	chr1:105108845-105108846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2037113	chr1:105108865-105108866	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs2037114	chr1:105108885-105108886	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs72687444	chr1:105108893-105108894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141239178	chr1:105108913-105108914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374979277	chr1:105108914-105108915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3033859	chr1:105108915-105108916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74718942	chr1:105108916-105108917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115941113	chr1:105108979-105108980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539650158	chr1:105109001-105109002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4378213	chr1:105109002-105109003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2037115	chr1:105109052-105109053	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185470008	chr1:105109069-105109070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539851067	chr1:105109084-105109085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564991747	chr1:105109152-105109153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532289509	chr1:105109162-105109163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11184210	chr1:105109163-105109164	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs35890188	chr1:105109178-105109179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116633206	chr1:105109180-105109181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs56074665	chr1:105109195-105109196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144067370	chr1:105127412-105127413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188547358	chr1:105127416-105127417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145969659	chr1:105127440-105127441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560525068	chr1:105127512-105127513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533044379	chr1:105127514-105127515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551663733	chr1:105127521-105127522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79932255	chr1:105127535-105127536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546391373	chr1:105127542-105127543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560527256	chr1:105127543-105127544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556687310	chr1:105127565-105127566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369369844	chr1:105127580-105127581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180836830	chr1:105127583-105127584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11584387	chr1:105127598-105127599	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs77502394	chr1:105127637-105127638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11589483	chr1:105127649-105127650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs368759208	chr1:105127672-105127673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74461261	chr1:105127740-105127741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550878380	chr1:105127774-105127775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112978148	chr1:105127803-105127804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9435314	chr1:105127905-105127906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575631628	chr1:105127915-105127916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114517457	chr1:105127944-105127945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139839778	chr1:105127964-105127965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72650243	chr1:105127965-105127966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs77793358	chr1:105127967-105127968	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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	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
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
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
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:105108800-105109200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:105127400-105127800	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:105127800-105134800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:105134800-105137200	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:105135200-105135400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr1:105135200-105135600	Enhancers	GM12878-XiMat	blood
7	chr1:105135200-105137000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:105135600-105136600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:105136400-105137000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:105136600-105137000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr1:105137000-105144200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:105141400-105142000	Enhancers	Fetal Lung	lung
13	chr1:105144200-105144400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:105144400-105145200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:105145200-105145400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:105145200-105145600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:105159400-105159800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:105159600-105161200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:105162800-105163600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:105163200-105164600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:105163600-105164200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:105164200-105165000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:105165000-105165400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:105165400-105165600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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