Variant report

Variant	esv3584809
Chromosome Location	chr1:72768936-72844844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 485 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537638068	chr1:72788376-72788377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116805425	chr1:72788607-72788608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9425101	chr1:72788690-72788691	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531269330	chr1:72788711-72788712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533584995	chr1:72788800-72788801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35097151	chr1:72795612-72795613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547588667	chr1:72795639-72795640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113178321	chr1:72795646-72795647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139510965	chr1:72795691-72795692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149705599	chr1:72795694-72795695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536437893	chr1:72795719-72795720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12735295	chr1:72811460-72811461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193241363	chr1:72811553-72811554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115745189	chr1:72811556-72811557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140328238	chr1:72811563-72811564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552036275	chr1:72811627-72811628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565417891	chr1:72811649-72811650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528447228	chr1:72811665-72811666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142212721	chr1:72811693-72811694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200289131	chr1:72811837-72811838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185397415	chr1:72811839-72811840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11209948	chr1:72811904-72811905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs567493438	chr1:72811943-72811944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78095791	chr1:72811957-72811958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556776687	chr1:72811966-72811967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569991545	chr1:72811979-72811980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539001661	chr1:72811980-72811981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559128280	chr1:72812032-72812033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572586337	chr1:72812038-72812039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371065486	chr1:72812039-72812040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76542662	chr1:72812131-72812132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541508164	chr1:72812212-72812213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151226399	chr1:72812216-72812217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61767381	chr1:72812227-72812228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2568960	chr1:72812249-72812250	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs189248364	chr1:72812289-72812290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543390618	chr1:72812302-72812303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2815753	chr1:72812324-72812325	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs576794875	chr1:72812393-72812394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545771327	chr1:72812405-72812406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558891317	chr1:72812424-72812425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2815752	chr1:72812440-72812441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
43	rs547836171	chr1:72812493-72812494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570288243	chr1:72812533-72812534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139133085	chr1:72812566-72812567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185037912	chr1:72812623-72812624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2613494	chr1:72812657-72812658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs111773213	chr1:72812681-72812682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538928563	chr1:72812689-72812690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552623659	chr1:72812691-72812692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
Melanoma	17363583	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
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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72788200-72788800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:72795600-72796000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:72811400-72813400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:72812000-72812400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:72813400-72813600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr1:72816000-72816400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:72816000-72816600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:72816000-72816600	Enhancers	NHEK	skin
9	chr1:72816200-72816600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:72816200-72816600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:72822800-72823200	Enhancers	HMEC	breast
12	chr1:72823000-72823600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:72823000-72823600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:72823400-72823800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:72824000-72824400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:72831200-72832000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:72831200-72833000	Enhancers	Dnd41	blood
18	chr1:72831200-72833200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:72831400-72832600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:72831400-72832600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:72831400-72832800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:72831400-72833000	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:72831600-72832400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:72831600-72832400	Enhancers	HMEC	breast
25	chr1:72831600-72832400	Enhancers	HSMM	muscle
26	chr1:72831600-72832800	Enhancers	Hela-S3	cervix
27	chr1:72831600-72833000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr1:72832000-72832400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:72832000-72832400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:72832000-72832400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:72832000-72832600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:72832000-72832600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:72832000-72832600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:72832000-72832600	Enhancers	Liver	Liver
35	chr1:72832000-72832800	Enhancers	NHEK	skin
36	chr1:72832200-72832400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr1:72832200-72832600	Enhancers	Primary T cells from cord blood	blood
38	chr1:72832400-72832600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr1:72832400-72833000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:72832400-72836800	Weak transcription	HMEC	breast
41	chr1:72832400-72837000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:72832600-72832800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:72832800-72833200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:72832800-72834800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:72832800-72837200	Weak transcription	NHEK	skin
46	chr1:72832800-72837400	Weak transcription	Hela-S3	cervix
47	chr1:72833000-72834000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:72833000-72834800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:72833000-72834800	Weak transcription	Dnd41	blood
50	chr1:72833200-72835000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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