Variant report

Variant	esv3449808
Chromosome Location	chr1:92069419-92069710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92059728..92061441-chr1:92068842..92071690,2	K562	blood:
2	chr1:92067249..92070219-chr1:92074709..92076906,3	K562	blood:
3	chr1:92067249..92070219-chr1:92074709..92076665,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534410690	chr1:92069461-92069462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1192406	chr1:92069466-92069467	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574080008	chr1:92069477-92069478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535133977	chr1:92069519-92069520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74535710	chr1:92069533-92069534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117144645	chr1:92069637-92069638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12724439	chr1:92069663-92069664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1192407	chr1:92069689-92069690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
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
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92055800-92076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:92057200-92070400	Weak transcription	Psoas Muscle	Psoas
3	chr1:92060600-92070200	Weak transcription	Right Ventricle	heart
4	chr1:92060800-92070200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:92061200-92070000	Weak transcription	Ovary	ovary
6	chr1:92062400-92074200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:92064000-92070000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:92067600-92071600	Weak transcription	Spleen	Spleen
9	chr1:92067800-92070000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:92067800-92070400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:92068200-92070000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:92068200-92070000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:92068200-92070000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:92068200-92070000	Weak transcription	Fetal Stomach	stomach
15	chr1:92068200-92070000	Weak transcription	Left Ventricle	heart
16	chr1:92068200-92071800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:92068200-92083800	Weak transcription	Fetal Lung	lung
18	chr1:92068400-92070200	Weak transcription	Adipose Nuclei	Adipose
19	chr1:92068600-92070000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:92068600-92070000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:92068800-92069600	Enhancers	GM12878-XiMat	blood
22	chr1:92068800-92070000	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:92068800-92074400	Weak transcription	Placenta	Placenta
24	chr1:92069000-92069600	Enhancers	Fetal Kidney	kidney
25	chr1:92069000-92069600	Enhancers	Right Atrium	heart
26	chr1:92069200-92070000	Weak transcription	NHDF-Ad	bronchial
27	chr1:92069200-92072000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:92069400-92072800	Enhancers	Fetal Heart	heart
29	chr1:92069600-92070000	Weak transcription	Right Atrium	heart
30	chr1:92069600-92074400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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