Variant report

Variant	esv2763318
Chromosome Location	chr1:72515717-72543691
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	chr1:72511431..72513999-chr1:72515087..72517593,2	K562	blood:

Extended variants
information (count: 728 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:728 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4348675	chr1:72515717-72515718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs137917640	chr1:72515786-72515787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563574855	chr1:72515792-72515793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369866887	chr1:72515819-72515820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563380387	chr1:72515848-72515849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532196138	chr1:72515857-72515858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552295095	chr1:72515883-72515884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571907876	chr1:72516034-72516035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1026999	chr1:72516076-72516077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1026998	chr1:72516080-72516081	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs180817339	chr1:72516175-72516176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143684048	chr1:72516206-72516207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369179319	chr1:72516219-72516220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146153943	chr1:72516258-72516259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1026997	chr1:72516287-72516288	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs115882135	chr1:72516372-72516373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572174894	chr1:72516377-72516378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148284196	chr1:72516398-72516399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186503226	chr1:72516563-72516564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141251440	chr1:72516575-72516576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150779485	chr1:72516636-72516637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563317253	chr1:72516673-72516674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113866254	chr1:72516684-72516685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545958386	chr1:72516688-72516689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115347470	chr1:72516730-72516731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527903451	chr1:72516755-72516756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547937289	chr1:72516769-72516770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138189311	chr1:72516851-72516852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530372218	chr1:72516863-72516864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115866648	chr1:72516926-72516927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1486085	chr1:72516975-72516976	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538626167	chr1:72516980-72516981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552274100	chr1:72516990-72516991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547022229	chr1:72517021-72517022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189809844	chr1:72517025-72517026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534525487	chr1:72517078-72517079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6657634	chr1:72517082-72517083	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574541296	chr1:72517131-72517132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374433198	chr1:72517194-72517195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557275409	chr1:72517224-72517225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181752346	chr1:72517274-72517275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535786185	chr1:72517275-72517276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545791144	chr1:72517293-72517294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559201886	chr1:72517341-72517342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572857348	chr1:72517356-72517357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377695576	chr1:72517359-72517360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541270416	chr1:72517363-72517364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142860377	chr1:72517368-72517369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371271114	chr1:72517377-72517378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530223229	chr1:72517384-72517385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
small cell lung cancer	20016488	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
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioma	20126413	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cancer	21272361	CNVD
Obesity	21131291	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72513200-72518400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:72514400-72519800	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:72516000-72517400	Enhancers	HUVEC	blood vessel
4	chr1:72516200-72516600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:72516600-72517400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:72516800-72517400	Enhancers	HSMM	muscle
7	chr1:72517200-72517600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:72517200-72517600	Enhancers	NH-A	brain
9	chr1:72517200-72517600	Enhancers	Osteobl	bone
10	chr1:72517400-72517800	Enhancers	HSMMtube	muscle
11	chr1:72519800-72520000	Enhancers	Colon Smooth Muscle	Colon
12	chr1:72520000-72520800	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:72521000-72521400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:72524600-72525000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr1:72524800-72525200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:72524800-72525400	Enhancers	NHEK	skin
17	chr1:72525000-72526000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:72525200-72527600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:72525400-72527800	Weak transcription	NHEK	skin
20	chr1:72526000-72526400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:72526000-72526400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr1:72526000-72526800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr1:72526200-72526800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:72526400-72526800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:72526400-72526800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:72526400-72526800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:72526400-72527400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:72526800-72527000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:72526800-72527800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:72526800-72528000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:72526800-72528200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr1:72526800-72532400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:72527000-72527800	Enhancers	Brain Substantia Nigra	brain
34	chr1:72527000-72528200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:72527400-72528200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr1:72527600-72528000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr1:72527600-72528200	Enhancers	HMEC	breast
38	chr1:72527600-72528400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:72527600-72528600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:72527600-72529800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:72527600-72530200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:72527800-72528200	Weak transcription	Brain Substantia Nigra	brain
43	chr1:72527800-72528400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr1:72527800-72529600	Enhancers	NHEK	skin
45	chr1:72528000-72528600	Enhancers	Colon Smooth Muscle	Colon
46	chr1:72528000-72529200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:72528200-72528400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:72528200-72528400	Enhancers	Brain Substantia Nigra	brain
49	chr1:72528200-72528400	Enhancers	Stomach Smooth Muscle	stomach
50	chr1:72528200-72528600	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links