Variant report

Variant	esv3333855
Chromosome Location	chr1:85549114-85551162
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	chr1:85548536..85550228-chr1:85552026..85553701,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543208490	chr1:85549171-85549172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559527935	chr1:85549200-85549201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570605512	chr1:85549218-85549219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201947260	chr1:85549321-85549322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532741232	chr1:85549418-85549419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56883087	chr1:85549442-85549443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554581650	chr1:85549448-85549449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7526413	chr1:85549464-85549465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs709761	chr1:85549474-85549475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554411756	chr1:85549478-85549479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567185651	chr1:85549524-85549525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536077051	chr1:85549610-85549611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199955211	chr1:85549649-85549650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546367687	chr1:85549678-85549679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184828295	chr1:85549787-85549788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535106577	chr1:85549801-85549802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11314442	chr1:85549806-85549807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368493720	chr1:85549831-85549832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150894781	chr1:85549846-85549847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577973656	chr1:85549851-85549852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150103883	chr1:85549854-85549855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112049016	chr1:85549856-85549857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35138663	chr1:85549857-85549858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537023595	chr1:85549872-85549873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112800914	chr1:85549881-85549882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148495951	chr1:85549897-85549898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574283688	chr1:85549928-85549929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs33956396	chr1:85549933-85549934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149014598	chr1:85549934-85549935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12074635	chr1:85549935-85549936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113905235	chr1:85549943-85549944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200200836	chr1:85549947-85549948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71075817	chr1:85549953-85549954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140663302	chr1:85549958-85549959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542970924	chr1:85549960-85549961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59205168	chr1:85549961-85549962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192618741	chr1:85549981-85549982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10747315	chr1:85549995-85549996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs11161523	chr1:85550019-85550020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs545088485	chr1:85550047-85550048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564798923	chr1:85550140-85550141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146215625	chr1:85550156-85550157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57826280	chr1:85550157-85550158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71894751	chr1:85550166-85550167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397778729	chr1:85550173-85550174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373460647	chr1:85550174-85550175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369217126	chr1:85550194-85550195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547787400	chr1:85550229-85550230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77685374	chr1:85550232-85550233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200958594	chr1:85550233-85550234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85529600-85552400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:85540200-85554400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:85540600-85553800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:85545400-85583400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:85546800-85549600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:85547400-85552000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:85547800-85559000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:85549800-85560600	Weak transcription	Aorta	Aorta

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