Variant report

Variant	esv3413281
Chromosome Location	chr1:69615980-69641526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 449 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78594522	chr1:69622842-69622843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74546116	chr1:69622880-69622881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534885263	chr1:69622888-69622889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142704869	chr1:69622894-69622895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147340548	chr1:69622959-69622960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139453870	chr1:69622983-69622984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371903989	chr1:69622985-69622986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374899150	chr1:69622991-69622992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183831860	chr1:69623029-69623030	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs188130105	chr1:69623080-69623081	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs539166688	chr1:69623092-69623093	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs552515601	chr1:69623095-69623096	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs80016365	chr1:69623121-69623122	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs542461595	chr1:69623164-69623165	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs562290761	chr1:69623168-69623169	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs575785329	chr1:69623169-69623170	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs538833111	chr1:69623190-69623191	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs544854650	chr1:69623194-69623195	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs564551525	chr1:69623269-69623270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs76956534	chr1:69623284-69623285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs374068811	chr1:69623405-69623406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs578200364	chr1:69623423-69623424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs533438038	chr1:69623430-69623431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs139579371	chr1:69623450-69623451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs79819566	chr1:69623473-69623474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs369778554	chr1:69623482-69623483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs529276883	chr1:69623517-69623518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs533024943	chr1:69623554-69623555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs368097847	chr1:69623556-69623557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs72938352	chr1:69623627-69623628	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536825832	chr1:69623706-69623707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs550329831	chr1:69623715-69623716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs570325671	chr1:69623776-69623777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs112542677	chr1:69623875-69623876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539104721	chr1:69623881-69623882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552794722	chr1:69623972-69623973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543185556	chr1:69624046-69624047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146759114	chr1:69624097-69624098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535817762	chr1:69624132-69624133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556009485	chr1:69624186-69624187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192751397	chr1:69624219-69624220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554173695	chr1:69624258-69624259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185191588	chr1:69624259-69624260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551524073	chr1:69624496-69624497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564640821	chr1:69624501-69624502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578219116	chr1:69624537-69624538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74854486	chr1:69624557-69624558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190120779	chr1:69624572-69624573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565248521	chr1:69624589-69624590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529282913	chr1:69624590-69624591	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
small cell lung cancer	20016488	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
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69622800-69623200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:69623000-69623800	ZNF genes & repeats	Aorta	Aorta
3	chr1:69623800-69626200	Weak transcription	Aorta	Aorta
4	chr1:69626200-69626400	Enhancers	Aorta	Aorta
5	chr1:69627600-69629200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:69631000-69631800	Enhancers	Fetal Stomach	stomach
7	chr1:69631600-69631800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:69631800-69632800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:69632800-69634400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:69633400-69633800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:69633600-69634000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:69633800-69637600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:69634000-69637200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:69634400-69636600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:69635600-69636200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:69636600-69637800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:69637200-69639600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:69637600-69637800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:69637800-69638200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:69637800-69638400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:69637800-69639800	Enhancers	Hela-S3	cervix
22	chr1:69638000-69638400	Enhancers	HMEC	breast
23	chr1:69638000-69638400	Enhancers	NH-A	brain
24	chr1:69638200-69638800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:69638400-69639200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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