Variant report

Variant	esv3353832
Chromosome Location	chr1:98106370-98106924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34911421	chr1:98106370-98106371	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377434801	chr1:98106385-98106386	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573399754	chr1:98106472-98106473	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113677689	chr1:98106518-98106519	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148929594	chr1:98106554-98106555	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562045996	chr1:98106603-98106604	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567615744	chr1:98106691-98106692	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574854153	chr1:98106730-98106731	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76245909	chr1:98106739-98106740	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142753473	chr1:98106742-98106743	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561125962	chr1:98106772-98106773	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151122402	chr1:98106783-98106784	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115695061	chr1:98106795-98106796	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7512910	chr1:98106812-98106813	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs182627889	chr1:98106863-98106864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs80034260	chr1:98106898-98106899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
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
Medulloblastoma	21979893	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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Malignant melanoma	17260012	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20803296	CNVD
Colorectal cancer	20653680	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98009800-98112200	Weak transcription	HSMM	muscle
2	chr1:98063000-98111400	Weak transcription	Liver	Liver
3	chr1:98087400-98111400	Weak transcription	Dnd41	blood
4	chr1:98087800-98143600	Weak transcription	Ovary	ovary
5	chr1:98088800-98109600	Weak transcription	Psoas Muscle	Psoas
6	chr1:98092200-98106400	Weak transcription	NHLF	lung
7	chr1:98095800-98112400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:98096400-98106800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:98097000-98110200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:98097000-98111800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:98097000-98115600	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:98097000-98119200	Weak transcription	Left Ventricle	heart
13	chr1:98098400-98113200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:98098400-98113400	Weak transcription	Osteobl	bone
15	chr1:98098400-98114000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:98099600-98112200	Weak transcription	Primary B cells from cord blood	blood
17	chr1:98101000-98112200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:98101200-98112200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:98101800-98112200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:98103800-98112200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:98104600-98110000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:98104600-98111200	Weak transcription	Primary T cells from cord blood	blood
23	chr1:98106000-98107000	Enhancers	Hela-S3	cervix
24	chr1:98106200-98106400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:98106200-98106400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:98106200-98106600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:98106200-98106600	Enhancers	HUVEC	blood vessel
28	chr1:98106200-98106800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:98106400-98106800	Enhancers	NHDF-Ad	bronchial
30	chr1:98106400-98106800	Enhancers	NHLF	lung
31	chr1:98106400-98111000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:98106800-98110800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr1:98106800-98113400	Weak transcription	NHDF-Ad	bronchial

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