Variant report

Variant	esv2442893
Chromosome Location	chr1:94250205-94251794
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	chr1:94244543..94247746-chr1:94248419..94251309,3	MCF-7	breast:
2	chr1:94243077..94247180-chr1:94249014..94254909,5	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137976601	chr1:94250226-94250227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143534039	chr1:94250331-94250332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188723737	chr1:94250350-94250351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547484041	chr1:94250407-94250408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554990477	chr1:94250409-94250410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6687914	chr1:94250425-94250426	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs547853407	chr1:94250444-94250445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs41395944	chr1:94250461-94250462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192295117	chr1:94250498-94250499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549966432	chr1:94250666-94250667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533893569	chr1:94250701-94250702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79790472	chr1:94250705-94250706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116824091	chr1:94250733-94250734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184086119	chr1:94250755-94250756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs765920	chr1:94250795-94250796	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs572429498	chr1:94250815-94250816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116498076	chr1:94250886-94250887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116027515	chr1:94250914-94250915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576411614	chr1:94250965-94250966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543692560	chr1:94251004-94251005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145716508	chr1:94251043-94251044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577077400	chr1:94251088-94251089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541211000	chr1:94251147-94251148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188864485	chr1:94251180-94251181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7515209	chr1:94251199-94251200	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548179610	chr1:94251310-94251311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72967313	chr1:94251351-94251352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184518368	chr1:94251411-94251412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377739717	chr1:94251412-94251413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12126015	chr1:94251431-94251432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559585015	chr1:94251435-94251436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11164994	chr1:94251457-94251458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs547672472	chr1:94251467-94251468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113250088	chr1:94251471-94251472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536306653	chr1:94251476-94251477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554950053	chr1:94251506-94251507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576474048	chr1:94251514-94251515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190209863	chr1:94251524-94251525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368148293	chr1:94251594-94251595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565150359	chr1:94251609-94251610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527598265	chr1:94251610-94251611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577187450	chr1:94251618-94251619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547368276	chr1:94251622-94251623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559272983	chr1:94251664-94251665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574479435	chr1:94251676-94251677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541534171	chr1:94251697-94251698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563312372	chr1:94251703-94251704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530459157	chr1:94251705-94251706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551737185	chr1:94251711-94251712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540137218	chr1:94251748-94251749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94220000-94254200	Weak transcription	Aorta	Aorta
2	chr1:94245600-94253000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:94246600-94255400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:94246800-94266600	Weak transcription	A549	lung
5	chr1:94247600-94251000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:94247800-94251400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:94249000-94252000	Weak transcription	Hela-S3	cervix
8	chr1:94249000-94263600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:94249400-94251200	Enhancers	HepG2	liver
10	chr1:94250400-94250600	Enhancers	Placenta	Placenta
11	chr1:94251000-94252200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:94251200-94252200	Weak transcription	HepG2	liver
13	chr1:94251400-94251800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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