Variant report

Variant	esv3449376
Chromosome Location	chr1:73477164-73481862
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:73472905..73475418-chr1:73476553..73478531,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183897551	chr1:73477195-73477196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146354049	chr1:73477201-73477202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534806702	chr1:73477223-73477224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560446634	chr1:73477268-73477269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548026859	chr1:73477286-73477287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553580414	chr1:73477301-73477302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145095816	chr1:73477325-73477326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372420743	chr1:73477326-73477327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189425120	chr1:73477332-73477333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34325591	chr1:73477354-73477355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4609383	chr1:73477420-73477421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560035158	chr1:73477525-73477526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138749475	chr1:73477602-73477603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149417524	chr1:73477611-73477612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181947465	chr1:73477620-73477621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376277387	chr1:73477664-73477665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185906698	chr1:73477669-73477670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371654788	chr1:73477744-73477745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572347640	chr1:73477807-73477808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572130953	chr1:73477819-73477820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541613349	chr1:73477822-73477823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375991526	chr1:73477865-73477866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561257212	chr1:73477893-73477894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560838529	chr1:73477939-73477940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111708640	chr1:73477944-73477945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574839956	chr1:73477956-73477957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543472430	chr1:73477998-73477999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563625718	chr1:73477999-73478000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532457268	chr1:73478016-73478017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558941134	chr1:73478022-73478023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559682503	chr1:73478060-73478061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531320517	chr1:73478116-73478117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549807602	chr1:73478157-73478158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113886427	chr1:73478158-73478159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375325658	chr1:73478175-73478176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74092637	chr1:73478176-73478177	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548351285	chr1:73478195-73478196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568079309	chr1:73478219-73478220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530602230	chr1:73478251-73478252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375960929	chr1:73478335-73478336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550166001	chr1:73478367-73478368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143822697	chr1:73478399-73478400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539040070	chr1:73478402-73478403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191967807	chr1:73478410-73478411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181140243	chr1:73478445-73478446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534918994	chr1:73478486-73478487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538673528	chr1:73478574-73478575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555115448	chr1:73478615-73478616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186436918	chr1:73478622-73478623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148130440	chr1:73478650-73478651	Weak transcription	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73476000-73478000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:73477200-73477400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:73478000-73478200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:73478200-73479200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:73481000-73481200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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