Variant report

Variant	esv3403953
Chromosome Location	chr1:120010829-120015527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 193 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:193 , 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	rs148813613	chr1:120010832-120010833	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs374608348	chr1:120010834-120010835	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs587663423	chr1:120010846-120010847	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs587738902	chr1:120010866-120010867	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs587595189	chr1:120010878-120010879	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs12407939	chr1:120010879-120010880	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190103684	chr1:120010886-120010887	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs34755978	chr1:120010892-120010893	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs375722758	chr1:120010914-120010915	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs12748734	chr1:120010942-120010943	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs142696931	chr1:120010962-120010963	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs587742514	chr1:120010977-120010978	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs587643818	chr1:120011013-120011014	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs72693128	chr1:120011014-120011015	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs587772297	chr1:120011024-120011025	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs151008695	chr1:120011044-120011045	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs12406851	chr1:120011081-120011082	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375952218	chr1:120011089-120011090	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs115250707	chr1:120011169-120011170	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs587751237	chr1:120011221-120011222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs587643527	chr1:120011255-120011256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs587706909	chr1:120011316-120011317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17023756	chr1:120011322-120011323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs587636782	chr1:120011338-120011339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs587718252	chr1:120011363-120011364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182618255	chr1:120011375-120011376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187278877	chr1:120011403-120011404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs587707724	chr1:120011439-120011440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587612225	chr1:120011440-120011441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs587661953	chr1:120011491-120011492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374336352	chr1:120011514-120011515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369662107	chr1:120011525-120011526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs587639648	chr1:120011569-120011570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs587697059	chr1:120011580-120011581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs587756001	chr1:120011609-120011610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34504366	chr1:120011619-120011620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140850681	chr1:120011633-120011634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144757343	chr1:120011636-120011637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138888465	chr1:120011654-120011655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587629924	chr1:120011664-120011665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587674732	chr1:120011685-120011686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140622352	chr1:120011689-120011690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145673089	chr1:120011698-120011699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587718456	chr1:120011701-120011702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587759859	chr1:120011722-120011723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587726847	chr1:120011723-120011724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79696364	chr1:120011732-120011733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74979718	chr1:120011747-120011748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587608367	chr1:120011750-120011751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191555753	chr1:120011751-120011752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Wilms tumour	21544195	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
Glioblastoma multiforme	21080181	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120003400-120011800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:120008600-120011200	Enhancers	Adipose Nuclei	Adipose
3	chr1:120008600-120011400	Enhancers	Fetal Intestine Small	intestine
4	chr1:120008600-120012200	Enhancers	Liver	Liver
5	chr1:120008600-120012400	Enhancers	Fetal Intestine Large	intestine
6	chr1:120008800-120012200	Enhancers	HepG2	liver
7	chr1:120009400-120011000	Enhancers	NHEK	skin
8	chr1:120009400-120011200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr1:120009600-120011000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:120009800-120011200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:120009800-120011200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr1:120010200-120011200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:120010200-120015600	Weak transcription	Placenta	Placenta
14	chr1:120010600-120011200	Enhancers	Pancreas	Pancrea
15	chr1:120010600-120012200	Weak transcription	HMEC	breast
16	chr1:120010600-120012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:120010600-120014600	Weak transcription	Fetal Lung	lung
18	chr1:120010800-120011200	Enhancers	Duodenum Mucosa	Duodenum
19	chr1:120010800-120012000	Enhancers	Fetal Stomach	stomach
20	chr1:120011000-120012000	Weak transcription	NHEK	skin
21	chr1:120011200-120018400	Weak transcription	Pancreas	Pancrea
22	chr1:120011400-120011800	Weak transcription	Fetal Intestine Small	intestine
23	chr1:120011600-120011800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:120011800-120012000	Enhancers	Fetal Intestine Small	intestine
25	chr1:120012000-120014200	Weak transcription	Fetal Stomach	stomach
26	chr1:120012000-120018400	Weak transcription	Fetal Intestine Small	intestine
27	chr1:120012200-120012400	Enhancers	NHEK	skin
28	chr1:120012200-120013200	Enhancers	HMEC	breast
29	chr1:120012200-120017200	Weak transcription	Liver	Liver
30	chr1:120012400-120013000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:120012400-120015400	Weak transcription	Fetal Intestine Large	intestine
32	chr1:120014200-120016200	Enhancers	Fetal Stomach	stomach
33	chr1:120014600-120015600	Enhancers	Fetal Lung	lung
34	chr1:120014800-120015600	Enhancers	Fetal Kidney	kidney
35	chr1:120015400-120016400	Enhancers	Fetal Intestine Large	intestine

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