Variant report

Variant	esv3432773
Chromosome Location	chr1:114182779-114184777
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	chr1:114183983..114185528-chr1:114194793..114196565,2	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34581192	chr1:114182811-114182812	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs554239358	chr1:114182814-114182815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs1230663	chr1:114182841-114182842	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552695862	chr1:114182853-114182854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs566332987	chr1:114182863-114182864	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs538664179	chr1:114182885-114182886	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs192449877	chr1:114182895-114182896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs34806322	chr1:114182906-114182907	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs12144804	chr1:114182986-114182987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs139103057	chr1:114182998-114182999	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs544000730	chr1:114183008-114183009	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs557597720	chr1:114183027-114183028	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs574136010	chr1:114183047-114183048	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs373379498	chr1:114183053-114183054	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs543141498	chr1:114183070-114183071	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs143955303	chr1:114183072-114183073	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs528453021	chr1:114183082-114183083	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs545405236	chr1:114183093-114183094	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs547355046	chr1:114183124-114183125	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs185591157	chr1:114183148-114183149	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs1777239	chr1:114183151-114183152	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs140866436	chr1:114183168-114183169	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs560742858	chr1:114183173-114183174	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs573238023	chr1:114183230-114183231	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142105052	chr1:114183252-114183253	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs190465019	chr1:114183264-114183265	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs538229757	chr1:114183265-114183266	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs552169953	chr1:114183290-114183291	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs74325238	chr1:114183360-114183361	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs530932681	chr1:114183361-114183362	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs193035935	chr1:114183394-114183395	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs567750441	chr1:114183421-114183422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111578945	chr1:114183486-114183487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188502804	chr1:114183492-114183493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370138969	chr1:114183518-114183519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs137950717	chr1:114183531-114183532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111603485	chr1:114183532-114183533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55876850	chr1:114183538-114183539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71483889	chr1:114183539-114183540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71515912	chr1:114183546-114183547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372734977	chr1:114183547-114183548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536882260	chr1:114183548-114183549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71483890	chr1:114183555-114183556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200145337	chr1:114183556-114183557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55905181	chr1:114183563-114183564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2636001	chr1:114183574-114183575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573301805	chr1:114183626-114183627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200003089	chr1:114183630-114183631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370510884	chr1:114183638-114183639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111763939	chr1:114183640-114183641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
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
Ovarian cancer	21720365	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
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114159000-114195000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:114159200-114194800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:114161600-114184600	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:114161600-114184600	Weak transcription	HepG2	liver
5	chr1:114161800-114199800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:114162200-114184600	Weak transcription	Left Ventricle	heart
7	chr1:114169200-114189400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:114169400-114184600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:114170800-114184600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:114171600-114241400	Weak transcription	Right Ventricle	heart
11	chr1:114172400-114184600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:114172400-114192600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:114173000-114184600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:114173000-114184600	Weak transcription	Adipose Nuclei	Adipose
15	chr1:114173000-114214400	Weak transcription	Esophagus	oesophagus
16	chr1:114173000-114226800	Weak transcription	Aorta	Aorta
17	chr1:114173200-114184600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:114173200-114184600	Weak transcription	Ovary	ovary
19	chr1:114173400-114182800	Weak transcription	Fetal Lung	lung
20	chr1:114173400-114184600	Weak transcription	Primary T cells from cord blood	blood
21	chr1:114173600-114183800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:114173600-114184600	Weak transcription	Liver	Liver
23	chr1:114173600-114195000	Weak transcription	HMEC	breast
24	chr1:114173600-114206000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:114173800-114184600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:114173800-114184600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:114173800-114196200	Weak transcription	Gastric	stomach
28	chr1:114173800-114199600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:114173800-114201800	Weak transcription	Colonic Mucosa	Colon
30	chr1:114173800-114201800	Weak transcription	Lung	lung
31	chr1:114173800-114214400	Weak transcription	Pancreas	Pancrea
32	chr1:114173800-114236000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:114174000-114184600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:114174000-114184600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:114179800-114239600	Weak transcription	Spleen	Spleen
36	chr1:114180400-114184600	Weak transcription	Brain Angular Gyrus	brain
37	chr1:114181000-114182800	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr1:114181200-114199400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:114181400-114184600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:114181800-114183400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:114181800-114199800	Weak transcription	Fetal Brain Female	brain
42	chr1:114182000-114182800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
43	chr1:114182000-114182800	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr1:114182000-114183000	ZNF genes & repeats	Fetal Muscle Leg	muscle
45	chr1:114182000-114184600	Weak transcription	Brain Substantia Nigra	brain
46	chr1:114182000-114219600	Weak transcription	Fetal Kidney	kidney
47	chr1:114182200-114189200	Weak transcription	Placenta	Placenta
48	chr1:114182200-114197600	Weak transcription	Brain Hippocampus Middle	brain
49	chr1:114182600-114182800	Active TSS	Fetal Brain Male	brain
50	chr1:114182600-114187800	Weak transcription	Fetal Stomach	stomach

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