Variant report

Variant	nsv462862
Chromosome Location	chr1:105189711-105274065
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:105190498..105191127-chr1:106335842..106336840,2	MCF-7	breast:
2	chr1:105225780..105228608-chr1:105234068..105236251,2	K562	blood:
3	chr1:105225780..105228608-chr1:105234068..105236251,2	K562	blood:

Extended variants
information (count: 513 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:513 , 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	rs536761891	chr1:105190834-105190835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs958515	chr1:105190881-105190882	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs572921814	chr1:105190890-105190891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34405648	chr1:105190920-105190921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541720751	chr1:105190927-105190928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559041066	chr1:105190936-105190937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553158341	chr1:105190940-105190941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371491483	chr1:105190961-105190962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573015984	chr1:105190986-105190987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34706702	chr1:105191003-105191004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545010964	chr1:105191010-105191011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188599252	chr1:105191016-105191017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202047806	chr1:105191023-105191024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148208649	chr1:105191024-105191025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386634176	chr1:105191034-105191035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6684525	chr1:105191036-105191037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs958514	chr1:105191047-105191048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112481382	chr1:105191104-105191105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181129235	chr1:105191154-105191155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565905044	chr1:105191164-105191165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539857607	chr1:105191179-105191180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116574740	chr1:105191182-105191183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139373006	chr1:105191234-105191235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544782996	chr1:105191237-105191238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1913679	chr1:105191268-105191269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143294386	chr1:105191338-105191339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73003142	chr1:105191342-105191343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541336076	chr1:105191348-105191349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560009512	chr1:105191380-105191381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577549967	chr1:105191381-105191382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs872987	chr1:105191391-105191392	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563041177	chr1:105191396-105191397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530557785	chr1:105191461-105191462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548675502	chr1:105191476-105191477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs885538	chr1:105191488-105191489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs375208922	chr1:105191505-105191506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184798389	chr1:105191546-105191547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546564925	chr1:105191555-105191556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189258838	chr1:105191557-105191558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17013456	chr1:105191560-105191561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187346041	chr1:105191561-105191562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs872988	chr1:105191568-105191569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs546142753	chr1:105191570-105191571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs872989	chr1:105191574-105191575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs532019518	chr1:105191593-105191594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375931521	chr1:105191606-105191607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139251344	chr1:105191662-105191663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574118360	chr1:105191680-105191681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535254920	chr1:105191685-105191686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17013459	chr1:105191745-105191746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:105190800-105191200	Enhancers	Duodenum Smooth Muscle	Duodenum
2	chr1:105190800-105191200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr1:105190800-105191600	Enhancers	Rectal Smooth Muscle	rectum
4	chr1:105191000-105191600	Enhancers	Colon Smooth Muscle	Colon
5	chr1:105191600-105192000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:105192000-105192800	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:105193600-105194600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:105194400-105194600	Enhancers	Brain Germinal Matrix	brain
9	chr1:105199000-105201400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:105206600-105207600	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:105207000-105207400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:105207000-105207400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:105207000-105207600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:105207000-105207600	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:105213800-105214200	Enhancers	Fetal Heart	heart
16	chr1:105214200-105214400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:105214200-105214400	Enhancers	Fetal Lung	lung
18	chr1:105214200-105214600	Flanking Active TSS	Fetal Heart	heart
19	chr1:105214400-105214800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:105214400-105214800	Flanking Active TSS	Fetal Lung	lung
21	chr1:105214400-105214800	Active TSS	Hela-S3	cervix
22	chr1:105214400-105215200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:105214600-105215000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:105214600-105215000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:105214600-105215000	Enhancers	Fetal Heart	heart
26	chr1:105214600-105215000	Active TSS	Fetal Kidney	kidney
27	chr1:105214600-105215000	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr1:105214600-105215000	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr1:105214800-105215000	Enhancers	Fetal Lung	lung
30	chr1:105214800-105215200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:105237400-105237800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:105247600-105249000	Weak transcription	HSMMtube	muscle
33	chr1:105249000-105249200	Enhancers	Dnd41	blood
34	chr1:105249000-105249400	Active TSS	HepG2	liver
35	chr1:105249000-105249400	Active TSS	K562	blood
36	chr1:105249000-105249600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:105249000-105249600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:105249000-105249600	Active TSS	Muscle Satellite Cultured Cells	--
39	chr1:105249000-105249600	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr1:105249000-105249600	Active TSS	A549	lung
41	chr1:105249000-105249600	Active TSS	HSMM	muscle
42	chr1:105249000-105249600	Active TSS	HSMMtube	muscle
43	chr1:105249000-105249800	Active TSS	Psoas Muscle	Psoas
44	chr1:105249200-105249400	Enhancers	Placenta	Placenta
45	chr1:105249200-105249600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:105249200-105249600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:105249200-105249600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:105249200-105249600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:105249200-105249600	Active TSS	Liver	Liver
50	chr1:105249200-105249600	Active TSS	Duodenum Mucosa	Duodenum

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