Variant report

Variant	esv3396822
Chromosome Location	chr1:75378980-75412094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201408988	chr1:75389439-75389440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548342412	chr1:75389450-75389451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576214017	chr1:75389492-75389493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566578859	chr1:75389589-75389590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533825175	chr1:75389590-75389591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545215786	chr1:75389596-75389597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368287865	chr1:75389600-75389601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576737861	chr1:75389657-75389658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537783640	chr1:75389689-75389690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556421130	chr1:75389691-75389692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188801882	chr1:75389796-75389797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574334191	chr1:75389812-75389813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541632014	chr1:75389820-75389821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149295818	chr1:75389821-75389822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572232389	chr1:75389831-75389832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545861003	chr1:75389897-75389898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564359579	chr1:75389902-75389903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78741930	chr1:75389913-75389914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201004212	chr1:75389917-75389918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113967949	chr1:75389924-75389925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562395252	chr1:75389931-75389932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529568687	chr1:75389968-75389969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548010393	chr1:75389973-75389974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76321328	chr1:75389988-75389989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4949678	chr1:75389998-75389999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386632472	chr1:75390010-75390011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138364289	chr1:75390011-75390012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78719265	chr1:75390012-75390013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77774754	chr1:75390044-75390045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574395556	chr1:75390060-75390061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535338172	chr1:75390076-75390077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553568872	chr1:75390099-75390100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116362262	chr1:75390100-75390101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546011297	chr1:75390129-75390130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200853427	chr1:75390140-75390141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565213307	chr1:75390143-75390144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376882556	chr1:75390160-75390161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374245666	chr1:75390171-75390172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77494417	chr1:75390173-75390174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576396739	chr1:75390194-75390195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538584301	chr1:75403176-75403177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9787288	chr1:75403177-75403178	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs375712923	chr1:75403220-75403221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145182516	chr1:75403254-75403255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553061866	chr1:75403261-75403262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200778703	chr1:75403378-75403379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532282220	chr1:75404032-75404033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535297780	chr1:75404085-75404086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192919344	chr1:75404088-75404089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1413991	chr1:75404117-75404118	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75389400-75390200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:75403000-75403400	Enhancers	Adipose Nuclei	Adipose
3	chr1:75403000-75403400	Enhancers	Fetal Heart	heart
4	chr1:75404000-75404600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:75404000-75404600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr1:75408400-75409400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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