Variant report

Variant	esv3320192
Chromosome Location	chr1:72447664-72451962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567692788	chr1:72447672-72447673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141426230	chr1:72447675-72447676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377099332	chr1:72447694-72447695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374867177	chr1:72447756-72447757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551919175	chr1:72447819-72447820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550243841	chr1:72447880-72447881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181862396	chr1:72447913-72447914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534161550	chr1:72447960-72447961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71859694	chr1:72448055-72448056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35519416	chr1:72448058-72448059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567439737	chr1:72448075-72448076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539216996	chr1:72448117-72448118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552441049	chr1:72448126-72448127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566271482	chr1:72448177-72448178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535300511	chr1:72448244-72448245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555322568	chr1:72448262-72448263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574863030	chr1:72448295-72448296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537484485	chr1:72448331-72448332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557425780	chr1:72448348-72448349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141555259	chr1:72448517-72448518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77552427	chr1:72448520-72448521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61767467	chr1:72448569-72448570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546287766	chr1:72448578-72448579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186933049	chr1:72448689-72448690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572725645	chr1:72448696-72448697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190573762	chr1:72448710-72448711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561683905	chr1:72448712-72448713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77547904	chr1:72448718-72448719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367859876	chr1:72448732-72448733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2768381	chr1:72448765-72448766	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs2801321	chr1:72448799-72448800	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs577785942	chr1:72448816-72448817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564109705	chr1:72448832-72448833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532844345	chr1:72448838-72448839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546690337	chr1:72448896-72448897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35948083	chr1:72448902-72448903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566112267	chr1:72448963-72448964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535258381	chr1:72449008-72449009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548890788	chr1:72449027-72449028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181903261	chr1:72449043-72449044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111533726	chr1:72449100-72449101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189794417	chr1:72449154-72449155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369252187	chr1:72449181-72449182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35594502	chr1:72449278-72449279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78682238	chr1:72449426-72449427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577186722	chr1:72449454-72449455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539523340	chr1:72449467-72449468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182123918	chr1:72449493-72449494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77596701	chr1:72449516-72449517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61767468	chr1:72449521-72449522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Pancreatic cancer	17952125	CNVD
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72447400-72447800	Weak transcription	Fetal Heart	heart
2	chr1:72447800-72448800	Enhancers	Fetal Heart	heart
3	chr1:72448800-72449200	Weak transcription	Fetal Heart	heart
4	chr1:72449200-72449400	Enhancers	Fetal Heart	heart
5	chr1:72449400-72452000	Weak transcription	Fetal Heart	heart
6	chr1:72451600-72452400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:72451800-72452200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:72451800-72452200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:72451800-72452400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:72451800-72452800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:72451800-72453200	Enhancers	Colon Smooth Muscle	Colon

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