Variant report

Variant	esv2830088
Chromosome Location	chr1:73048685-73082539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 257 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552777113	chr1:73051605-73051606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572837402	chr1:73051625-73051626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs180784467	chr1:73051631-73051632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555036934	chr1:73051643-73051644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185149633	chr1:73051645-73051646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35627922	chr1:73051646-73051647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377062933	chr1:73051649-73051650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397752891	chr1:73051652-73051653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563964122	chr1:73051697-73051698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577662262	chr1:73051786-73051787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61774462	chr1:73051808-73051809	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561072566	chr1:73051843-73051844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560001740	chr1:73051888-73051889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151039024	chr1:73051901-73051902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386632343	chr1:73051955-73051956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151149876	chr1:73051957-73051958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368269317	chr1:73051958-73051959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561892254	chr1:73051969-73051970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141375956	chr1:73051984-73051985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs58734103	chr1:73052063-73052064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550607993	chr1:73052087-73052088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549802532	chr1:73052145-73052146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572590591	chr1:73052193-73052194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570390083	chr1:73052208-73052209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533091627	chr1:73052218-73052219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374483274	chr1:73052224-73052225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143920862	chr1:73052261-73052262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566682090	chr1:73052288-73052289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190793869	chr1:73052341-73052342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535157609	chr1:73052376-73052377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557343225	chr1:73066266-73066267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575257994	chr1:73066286-73066287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144826676	chr1:73066289-73066290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577218921	chr1:73066326-73066327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75549807	chr1:73066338-73066339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34252801	chr1:73066376-73066377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138846268	chr1:73066387-73066388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559834198	chr1:73066421-73066422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372272520	chr1:73066456-73066457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187650072	chr1:73066529-73066530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539317799	chr1:73066533-73066534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115484330	chr1:73066560-73066561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375465594	chr1:73066563-73066564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530723698	chr1:73066627-73066628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192631492	chr1:73066654-73066655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182759170	chr1:73066697-73066698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533011781	chr1:73066711-73066712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546362489	chr1:73066717-73066718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566599187	chr1:73066765-73066766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535440173	chr1:73066809-73066810	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73051600-73052400	Enhancers	Liver	Liver
2	chr1:73066200-73068800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:73066400-73067000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:73066800-73067200	Enhancers	Liver	Liver
5	chr1:73066800-73067400	Enhancers	Fetal Heart	heart
6	chr1:73067000-73067400	Enhancers	Ovary	ovary
7	chr1:73067000-73067400	Enhancers	HepG2	liver
8	chr1:73070400-73070800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:73070800-73072800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:73071400-73072000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:73071400-73073600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:73071400-73073600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:73071400-73074000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:73071800-73072000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:73071800-73072200	Enhancers	Gastric	stomach
16	chr1:73071800-73073200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:73071800-73073800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:73072000-73072400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:73072000-73072800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:73072400-73073200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:73072400-73073600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:73072600-73072800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:73072800-73073400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:73072800-73073600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr1:73073400-73073600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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