Variant report

Variant	esv3382727
Chromosome Location	chr1:73380564-73384062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544166730	chr1:73380598-73380599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570408700	chr1:73380607-73380608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545432457	chr1:73380651-73380652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534714462	chr1:73380672-73380673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115022140	chr1:73380690-73380691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17093628	chr1:73380720-73380721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7535137	chr1:73380773-73380774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs74092234	chr1:73380841-73380842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543653403	chr1:73380857-73380858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563814003	chr1:73380874-73380875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532636831	chr1:73380894-73380895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552631829	chr1:73380895-73380896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574585917	chr1:73380910-73380911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs66712213	chr1:73380933-73380934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74261267	chr1:73380934-73380935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116151879	chr1:73380970-73380971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193289125	chr1:73381038-73381039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540111158	chr1:73381100-73381101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555273575	chr1:73381144-73381145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376132900	chr1:73381153-73381154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367837322	chr1:73381177-73381178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371731815	chr1:73381223-73381224	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs375917160	chr1:73381239-73381240	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs568164348	chr1:73381268-73381269	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs537297447	chr1:73381309-73381310	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs6692856	chr1:73381312-73381313	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552535139	chr1:73381314-73381315	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs570245706	chr1:73381332-73381333	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs185093313	chr1:73381395-73381396	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs552568679	chr1:73381429-73381430	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs367991766	chr1:73381496-73381497	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs535013284	chr1:73381535-73381536	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs190414692	chr1:73381540-73381541	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs565382876	chr1:73381547-73381548	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs532542816	chr1:73381578-73381579	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs57378146	chr1:73381634-73381635	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536851582	chr1:73381635-73381636	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs55984087	chr1:73381645-73381646	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370874929	chr1:73381646-73381647	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143361920	chr1:73381651-73381652	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555245004	chr1:73381652-73381653	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148884223	chr1:73381661-73381662	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34371523	chr1:73381682-73381683	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35060412	chr1:73381683-73381684	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191741152	chr1:73381737-73381738	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184199194	chr1:73381819-73381820	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80214748	chr1:73381848-73381849	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563851677	chr1:73381879-73381880	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141155495	chr1:73381931-73381932	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150788878	chr1:73381936-73381937	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	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	chr1:73377800-73381000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:73378600-73382600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:73380200-73382000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:73381000-73381200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:73381000-73381200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:73381000-73381200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:73381000-73381400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:73381000-73381400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:73381000-73382000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:73381000-73382600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:73381200-73381400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr1:73381200-73381600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr1:73381200-73381600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr1:73381200-73381600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:73381200-73381600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr1:73381200-73381600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:73381200-73381600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:73381200-73381800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:73381200-73381800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr1:73381200-73381800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr1:73381200-73381800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:73381400-73381600	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr1:73381400-73381800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:73381400-73381800	Enhancers	Fetal Brain Male	brain
25	chr1:73381400-73382000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:73381400-73382000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:73381600-73381800	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr1:73382800-73383000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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