Variant report

Variant	esv3356525
Chromosome Location	chr1:77128764-77132962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566156136	chr1:77131813-77131814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553075161	chr1:77131838-77131839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571278323	chr1:77131874-77131875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538239551	chr1:77131917-77131918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557662475	chr1:77131937-77131938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181667413	chr1:77131954-77131955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543266353	chr1:77131981-77131982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185617232	chr1:77132034-77132035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377718923	chr1:77132092-77132093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368467096	chr1:77132147-77132148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372585400	chr1:77132148-77132149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140920118	chr1:77132156-77132157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370920794	chr1:77132164-77132165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs59832435	chr1:77132165-77132166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143382235	chr1:77132166-77132167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565024631	chr1:77132167-77132168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374368963	chr1:77132169-77132170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368310668	chr1:77132173-77132174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188471587	chr1:77132242-77132243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56408223	chr1:77132260-77132261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530721136	chr1:77132370-77132371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35721302	chr1:77132387-77132388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114348285	chr1:77132409-77132410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181017959	chr1:77132507-77132508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528260051	chr1:77132544-77132545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546751835	chr1:77132653-77132654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531969957	chr1:77132663-77132664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373134398	chr1:77132679-77132680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567118138	chr1:77132681-77132682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571342075	chr1:77132691-77132692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529626842	chr1:77132695-77132696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549493736	chr1:77132704-77132705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369116978	chr1:77132705-77132706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11162187	chr1:77132763-77132764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs79595762	chr1:77132821-77132822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370234276	chr1:77132872-77132873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538489659	chr1:77132877-77132878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71656898	chr1:77132907-77132908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573137460	chr1:77132910-77132911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540408788	chr1:77132911-77132912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185046887	chr1:77132930-77132931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576915191	chr1:77132934-77132935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544650446	chr1:77132945-77132946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs202005339	chr1:77132955-77132956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
Pancreatic cancer	17952125	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77131800-77132600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:77131800-77132600	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr1:77131800-77133000	Enhancers	Liver	Liver
4	chr1:77132200-77132600	Enhancers	Fetal Intestine Large	intestine
5	chr1:77132200-77132600	Enhancers	Fetal Muscle Leg	muscle
6	chr1:77132200-77132600	Enhancers	Stomach Mucosa	stomach
7	chr1:77132200-77133200	Enhancers	Psoas Muscle	Psoas
8	chr1:77132400-77132600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:77132400-77132600	Enhancers	Aorta	Aorta
10	chr1:77132400-77132600	Enhancers	Brain Germinal Matrix	brain
11	chr1:77132400-77132600	Enhancers	Gastric	stomach
12	chr1:77132400-77133200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr1:77132400-77133800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr1:77132600-77133600	Weak transcription	Stomach Mucosa	stomach
15	chr1:77132600-77137200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:77132600-77138800	Weak transcription	Fetal Intestine Large	intestine
17	chr1:77132800-77134600	Weak transcription	Brain Germinal Matrix	brain

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