Variant report

Variant	esv3451301
Chromosome Location	chr1:75722980-75744683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:75730735..75733136-chr1:75734426..75736968,2	K562	blood:
2	chr1:75731173..75731698-chr1:76097693..76098339,2	MCF-7	breast:
3	chr1:75731104..75731714-chr1:76048302..76048818,2	K562	blood:
4	chr1:75730735..75733136-chr1:75734426..75736968,2	K562	blood:

Extended variants
information (count: 618 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574202651	chr1:75723019-75723020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534925162	chr1:75723036-75723037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189714356	chr1:75723037-75723038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578252365	chr1:75723039-75723040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545374363	chr1:75723068-75723069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76381088	chr1:75723077-75723078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79929908	chr1:75723084-75723085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543136844	chr1:75723116-75723117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561248975	chr1:75723119-75723120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180729347	chr1:75723151-75723152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75670984	chr1:75723227-75723228	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs559555242	chr1:75723228-75723229	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs533105471	chr1:75723230-75723231	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs201347315	chr1:75723253-75723254	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs550955395	chr1:75723279-75723280	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs185028881	chr1:75723288-75723289	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs138124738	chr1:75723289-75723290	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs377464136	chr1:75723355-75723356	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs549032643	chr1:75723395-75723396	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs567262670	chr1:75723415-75723416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs590301	chr1:75723428-75723429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs75918990	chr1:75723485-75723486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578249197	chr1:75723563-75723564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539379603	chr1:75723573-75723574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143670377	chr1:75723597-75723598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114559723	chr1:75723606-75723607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371940495	chr1:75723624-75723625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542673129	chr1:75723641-75723642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561393752	chr1:75723680-75723681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374654230	chr1:75723731-75723732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573260249	chr1:75723749-75723750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78458183	chr1:75723756-75723757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143130053	chr1:75723780-75723781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191007938	chr1:75723781-75723782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544932738	chr1:75723852-75723853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551631074	chr1:75723877-75723878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11162944	chr1:75723901-75723902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530387500	chr1:75723921-75723922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548708704	chr1:75723966-75723967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148331530	chr1:75723989-75723990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184047856	chr1:75724063-75724064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144651844	chr1:75724081-75724082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138213791	chr1:75724083-75724084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59799245	chr1:75724097-75724098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200195538	chr1:75724098-75724099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201125892	chr1:75724099-75724100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547160585	chr1:75724133-75724134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571903810	chr1:75724165-75724166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368963623	chr1:75724197-75724198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188544253	chr1:75724206-75724207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75716400-75723800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:75720400-75726200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:75723200-75723400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:75726200-75727800	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:75730600-75732200	Enhancers	HepG2	liver
6	chr1:75731600-75731800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:75731600-75732000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:75731800-75732800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:75732800-75737200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:75735800-75736000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:75736400-75738400	Weak transcription	Fetal Brain Female	brain
12	chr1:75737200-75737800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:75737400-75737600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:75737600-75738600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:75737800-75743000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:75738400-75740800	Enhancers	K562	blood
17	chr1:75738600-75739200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:75739200-75741800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:75739800-75742400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:75741000-75741800	Enhancers	NH-A	brain
21	chr1:75741400-75741800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr1:75741800-75742000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:75741800-75742000	Flanking Active TSS	NH-A	brain
24	chr1:75742000-75742400	Active TSS	NH-A	brain
25	chr1:75742000-75742600	Enhancers	NHEK	skin
26	chr1:75742400-75742600	Flanking Active TSS	NH-A	brain
27	chr1:75742400-75742800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:75743000-75743200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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