Variant report

Variant	esv3427745
Chromosome Location	chr1:95055013-95055218
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95054539..95057690-chr1:95058025..95060713,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557485314	chr1:95055026-95055027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577623837	chr1:95055046-95055047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531001158	chr1:95055075-95055076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560082519	chr1:95055077-95055078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527310063	chr1:95055091-95055092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541004646	chr1:95055097-95055098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1772904	chr1:95055132-95055133	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573063148	chr1:95055135-95055136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549712864	chr1:95055138-95055139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569471165	chr1:95055167-95055168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	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
Acute lymphoblastic leukemia	22237106	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95046000-95065400	Weak transcription	Fetal Intestine Large	intestine
2	chr1:95046400-95055200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:95047000-95055800	Weak transcription	NHLF	lung
4	chr1:95052400-95056000	Weak transcription	HSMM	muscle
5	chr1:95053000-95055400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:95053600-95055200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:95053600-95055800	Weak transcription	Fetal Lung	lung
8	chr1:95053800-95057800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:95054400-95055200	Weak transcription	Brain Germinal Matrix	brain
10	chr1:95055000-95056000	Enhancers	Brain Hippocampus Middle	brain
11	chr1:95055000-95056200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:95055000-95056200	Enhancers	Brain Substantia Nigra	brain
13	chr1:95055000-95056600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:95055000-95056600	Enhancers	Fetal Stomach	stomach
15	chr1:95055000-95059200	Enhancers	Brain Cingulate Gyrus	brain
16	chr1:95055000-95061400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:95055000-95061600	Enhancers	Brain Anterior Caudate	brain
18	chr1:95055000-95062000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:95055200-95055400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:95055200-95055400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr1:95055200-95055600	Bivalent Enhancer	HepG2	liver
22	chr1:95055200-95055800	Enhancers	Brain Germinal Matrix	brain
23	chr1:95055200-95056000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:95055200-95056200	Enhancers	Right Atrium	heart
25	chr1:95055200-95057600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:95055200-95057600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:95055200-95059200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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