Variant report

Variant	esv3355903
Chromosome Location	chr1:74964064-74968262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 180 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534051897	chr1:74964077-74964078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182347816	chr1:74964142-74964143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576939502	chr1:74964145-74964146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544016595	chr1:74964158-74964159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74791190	chr1:74964162-74964163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187776943	chr1:74964182-74964183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572235273	chr1:74964204-74964205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541816178	chr1:74964233-74964234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151017572	chr1:74964236-74964237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527691699	chr1:74964300-74964301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201827923	chr1:74964410-74964411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72977490	chr1:74964411-74964412	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192601616	chr1:74964417-74964418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560942586	chr1:74964418-74964419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185099219	chr1:74964424-74964425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113951118	chr1:74964429-74964430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188813509	chr1:74964452-74964453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377720746	chr1:74964488-74964489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547990118	chr1:74964527-74964528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76265693	chr1:74964531-74964532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75807083	chr1:74964532-74964533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78385868	chr1:74964533-74964534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201841000	chr1:74964537-74964538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80307868	chr1:74964538-74964539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566416359	chr1:74964546-74964547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543039095	chr1:74964552-74964553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192688560	chr1:74964557-74964558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558780176	chr1:74964572-74964573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17095451	chr1:74964595-74964596	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs375599331	chr1:74964598-74964599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537625693	chr1:74964602-74964603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555985144	chr1:74964603-74964604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574580455	chr1:74964605-74964606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs57824876	chr1:74964624-74964625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184683652	chr1:74964650-74964651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530646540	chr1:74964712-74964713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115136068	chr1:74964714-74964715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368219994	chr1:74964800-74964801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146032659	chr1:74964808-74964809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370568721	chr1:74964841-74964842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374538509	chr1:74964844-74964845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532092771	chr1:74964854-74964855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544022247	chr1:74964862-74964863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs274607	chr1:74964891-74964892	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529514330	chr1:74964989-74964990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548238718	chr1:74965005-74965006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566458459	chr1:74965035-74965036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371287103	chr1:74965048-74965049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114296924	chr1:74965067-74965068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536153617	chr1:74965135-74965136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74951200-74969800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:74955200-74968400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:74959400-74964400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:74959600-74964600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:74959800-74977800	Weak transcription	Left Ventricle	heart
6	chr1:74963400-74969400	Weak transcription	Fetal Heart	heart
7	chr1:74964400-74965000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:74964600-74965000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:74964800-74965000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:74965000-74969600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:74965000-74969600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:74965000-74969800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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