Variant report

Variant	esv2761632
Chromosome Location	chr1:77253722-77258826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190682440	chr1:77253726-77253727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200253135	chr1:77253730-77253731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548823162	chr1:77253738-77253739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12068054	chr1:77253749-77253750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567226109	chr1:77253779-77253780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78402345	chr1:77253781-77253782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7535687	chr1:77253833-77253834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs7535689	chr1:77253841-77253842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs61783210	chr1:77253871-77253872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554526624	chr1:77253883-77253884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370443843	chr1:77253892-77253893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61783211	chr1:77253928-77253929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144097145	chr1:77253979-77253980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544042213	chr1:77253999-77254000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560536671	chr1:77254015-77254016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556051454	chr1:77254067-77254068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574386042	chr1:77254069-77254070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386632594	chr1:77254136-77254137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11162211	chr1:77254137-77254138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375607202	chr1:77254139-77254140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11576527	chr1:77254185-77254186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532809819	chr1:77254198-77254199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146477710	chr1:77254202-77254203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569154631	chr1:77254213-77254214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369372923	chr1:77254218-77254219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371429924	chr1:77254236-77254237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182856917	chr1:77254251-77254252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372002676	chr1:77254290-77254291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111632376	chr1:77254315-77254316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530570474	chr1:77254355-77254356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544302534	chr1:77254400-77254401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188495122	chr1:77254460-77254461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373446829	chr1:77254465-77254466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140084876	chr1:77254469-77254470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530296899	chr1:77254473-77254474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191190650	chr1:77254484-77254485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12117410	chr1:77254485-77254486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs79839820	chr1:77254514-77254515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4489608	chr1:77254524-77254525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs537591117	chr1:77254594-77254595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34267054	chr1:77254651-77254652	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs183150975	chr1:77254669-77254670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12058646	chr1:77254673-77254674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs201798042	chr1:77254749-77254750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553404198	chr1:77254774-77254775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541761316	chr1:77254775-77254776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559902794	chr1:77254784-77254785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544680466	chr1:77254805-77254806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563341307	chr1:77254832-77254833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75621297	chr1:77254988-77254989	Weak transcription Enhancers	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77249000-77255800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:77252400-77254600	Weak transcription	Fetal Lung	lung
3	chr1:77254600-77255000	Enhancers	Fetal Lung	lung

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