Variant report

Variant	esv3366175
Chromosome Location	chr1:94673160-94673388
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	rs558137877	chr1:94673178-94673179	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6677288	chr1:94673187-94673188	Genic enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191943532	chr1:94673239-94673240	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554940003	chr1:94673255-94673256	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574503079	chr1:94673256-94673257	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4847295	chr1:94673343-94673344	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563850755	chr1:94673358-94673359	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541136074	chr1:94673372-94673373	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184267831	chr1:94673373-94673374	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138997309	chr1:94673378-94673379	Genic enhancers Weak transcription Strong 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
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	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
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21510904	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94634200-94675200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:94636200-94673400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:94640000-94684800	Weak transcription	Spleen	Spleen
4	chr1:94642400-94684600	Weak transcription	Fetal Stomach	stomach
5	chr1:94644800-94684400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:94645000-94687600	Weak transcription	Pancreas	Pancrea
7	chr1:94647200-94675800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:94647800-94676200	Weak transcription	Small Intestine	intestine
9	chr1:94649400-94684000	Weak transcription	Right Ventricle	heart
10	chr1:94649600-94680000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:94660400-94681000	Weak transcription	Fetal Heart	heart
12	chr1:94663200-94674600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:94665400-94673400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:94666600-94674600	Strong transcription	NHDF-Ad	bronchial
15	chr1:94668200-94673200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:94668400-94674400	Strong transcription	NHEK	skin
17	chr1:94668400-94674800	Weak transcription	Aorta	Aorta
18	chr1:94668400-94687000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:94668600-94684400	Weak transcription	Psoas Muscle	Psoas
20	chr1:94668800-94673400	Strong transcription	HMEC	breast
21	chr1:94668800-94699000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:94669200-94681200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:94669400-94676400	Genic enhancers	HUVEC	blood vessel
24	chr1:94669400-94687600	Weak transcription	Gastric	stomach
25	chr1:94669800-94675400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:94670000-94673400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:94670000-94673400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:94670000-94673400	Weak transcription	Left Ventricle	heart
29	chr1:94670000-94673400	Weak transcription	Lung	lung
30	chr1:94670000-94673400	Weak transcription	HSMMtube	muscle
31	chr1:94670000-94684000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:94670400-94674000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:94670400-94675600	Weak transcription	HepG2	liver
34	chr1:94670400-94684400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:94670600-94679200	Weak transcription	NHLF	lung
36	chr1:94670600-94684400	Weak transcription	Fetal Kidney	kidney
37	chr1:94670800-94674600	Weak transcription	A549	lung
38	chr1:94670800-94675000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:94670800-94675800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:94670800-94686400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:94670800-94686400	Weak transcription	Placenta	Placenta
42	chr1:94671800-94674200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:94672200-94673400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:94672200-94673400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr1:94672200-94673400	Weak transcription	NH-A	brain
46	chr1:94672200-94673400	Strong transcription	Osteobl	bone
47	chr1:94672200-94673800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:94672200-94678200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:94672400-94673400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:94672400-94673400	Weak transcription	Fetal Muscle Leg	muscle

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