Variant report

Variant	esv3377095
Chromosome Location	chr1:77908789-77911737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59935072	chr1:77908815-77908816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12754430	chr1:77908972-77908973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6658302	chr1:77908985-77908986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532148535	chr1:77908993-77908994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111501937	chr1:77908996-77908997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190253865	chr1:77909053-77909054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145105018	chr1:77909061-77909062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530859296	chr1:77909230-77909231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549098266	chr1:77909302-77909303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553089838	chr1:77909324-77909325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561466826	chr1:77909325-77909326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371404403	chr1:77909363-77909364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1498408	chr1:77909384-77909385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71244408	chr1:77909409-77909410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56396698	chr1:77909465-77909466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56398032	chr1:77909467-77909468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116384179	chr1:77909508-77909509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535252476	chr1:77909538-77909539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546959985	chr1:77909558-77909559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1498409	chr1:77909587-77909588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555816061	chr1:77909605-77909606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3104465	chr1:77909616-77909617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188616934	chr1:77909638-77909639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551301896	chr1:77909674-77909675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192969485	chr1:77909755-77909756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373417800	chr1:77909771-77909772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564155714	chr1:77909774-77909775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554255068	chr1:77909784-77909785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375274364	chr1:77909791-77909792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369228737	chr1:77909835-77909836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149771882	chr1:77909846-77909847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200130171	chr1:77909848-77909849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74356092	chr1:77909849-77909850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572767937	chr1:77909854-77909855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533663366	chr1:77909856-77909857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367922787	chr1:77909858-77909859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576628825	chr1:77909860-77909861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376137453	chr1:77909880-77909881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145861247	chr1:77909881-77909882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547313102	chr1:77909897-77909898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34198954	chr1:77909898-77909899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201272882	chr1:77909907-77909908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72489618	chr1:77909908-77909909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560690206	chr1:77909909-77909910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185591332	chr1:77909917-77909918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs36079912	chr1:77909919-77909920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529566982	chr1:77909936-77909937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71075742	chr1:77909963-77909964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11162345	chr1:77909968-77909969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71588896	chr1:77909983-77909984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Ewing''s sarcoma	17952124	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77872200-77913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:77894200-77912400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:77894200-77912600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:77900200-77913600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:77904600-77910600	Weak transcription	HSMM	muscle
6	chr1:77904800-77912600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:77905200-77912400	Weak transcription	NHDF-Ad	bronchial
8	chr1:77906200-77910400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:77907000-77916200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:77907400-77914000	Weak transcription	Brain Substantia Nigra	brain
11	chr1:77907800-77914000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:77907800-77927000	Weak transcription	HSMMtube	muscle
13	chr1:77908400-77915600	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:77908400-77916200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:77908600-77908800	Enhancers	Primary T cells from cord blood	blood
16	chr1:77908800-77912400	Weak transcription	Primary T cells from cord blood	blood
17	chr1:77909000-77909200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr1:77909200-77912600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:77910400-77911000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:77910600-77911200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr1:77910600-77911200	Strong transcription	HSMM	muscle
22	chr1:77911000-77925600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:77911200-77934000	Weak transcription	HSMM	muscle

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