Variant report

Variant	esv2763580
Chromosome Location	chr1:90824652-90835937
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	chr1:90823417..90825401-chr1:90827487..90829042,2	K562	blood:
2	chr1:90823417..90825401-chr1:90827487..90829042,2	K562	blood:

Extended variants
information (count: 270 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:270 , 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	rs7546709	chr1:90824652-90824653	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562456009	chr1:90824664-90824665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189134690	chr1:90824681-90824682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75863190	chr1:90824683-90824684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573680139	chr1:90824693-90824694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543914536	chr1:90824702-90824703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140763402	chr1:90824793-90824794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7515875	chr1:90824823-90824824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544806652	chr1:90824841-90824842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545309801	chr1:90824844-90824845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192399919	chr1:90824856-90824857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183824330	chr1:90824871-90824872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549550438	chr1:90824893-90824894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564784229	chr1:90824896-90824897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567693481	chr1:90824935-90824936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186606194	chr1:90824951-90824952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547101100	chr1:90824989-90824990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538529308	chr1:90825014-90825015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34699885	chr1:90825069-90825070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550252994	chr1:90825084-90825085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571690571	chr1:90825086-90825087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12124677	chr1:90825103-90825104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs34770961	chr1:90825121-90825122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34716656	chr1:90825128-90825129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558119052	chr1:90825151-90825152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6428586	chr1:90825173-90825174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs6428587	chr1:90825188-90825189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs6428588	chr1:90825206-90825207	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs573715889	chr1:90825207-90825208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145890534	chr1:90825225-90825226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138816620	chr1:90825228-90825229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76213574	chr1:90825230-90825231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544579859	chr1:90825235-90825236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560496464	chr1:90825309-90825310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539281290	chr1:90825351-90825352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191413392	chr1:90825372-90825373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375561194	chr1:90825387-90825388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542910435	chr1:90825576-90825577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561533858	chr1:90825596-90825597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17131012	chr1:90825613-90825614	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs147428038	chr1:90825619-90825620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551996983	chr1:90825643-90825644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138168790	chr1:90825645-90825646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374688602	chr1:90825674-90825675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149536782	chr1:90825689-90825690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547811978	chr1:90825747-90825748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566696114	chr1:90825751-90825752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534105752	chr1:90825761-90825762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144663000	chr1:90825797-90825798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576295743	chr1:90825816-90825817	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
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
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90824000-90824800	Enhancers	GM12878-XiMat	blood
2	chr1:90824000-90825200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:90824000-90825200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:90825200-90826000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:90825400-90825600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:90825400-90826000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:90825600-90825800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:90825600-90825800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:90825600-90826000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:90825600-90826000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:90826000-90829000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:90828000-90828200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:90828000-90828200	Enhancers	HMEC	breast
14	chr1:90829000-90829200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:90832600-90832800	Enhancers	Aorta	Aorta
16	chr1:90832800-90835600	Weak transcription	Aorta	Aorta
17	chr1:90835600-90836000	Enhancers	Spleen	Spleen
18	chr1:90835600-90836600	Enhancers	Aorta	Aorta
19	chr1:90835800-90836600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:90835800-90836800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:90835800-90838000	Enhancers	Dnd41	blood

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