Variant report

Variant	esv3414977
Chromosome Location	chr8:125214967-125215243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125208503..125210106-chr8:125213330..125215003,2	K562	blood:
2	chr8:125214674..125216919-chr8:125220846..125223864,3	MCF-7	breast:
3	chr8:125214006..125215805-chr8:125384508..125386541,2	MCF-7	breast:
4	chr8:125050056..125052985-chr8:125210899..125215246,3	MCF-7	breast:
5	chr8:125211433..125214005-chr8:125215089..125216813,2	MCF-7	breast:
6	chr8:125212588..125215990-chr8:125362115..125365671,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254249	chromatin interactions
ENSG00000164983	chromatin interactions

Extended variants
information (count: 5 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573039374	chr8:125214983-125214984	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs73703990	chr8:125215076-125215077	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555528546	chr8:125215105-125215106	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs183137191	chr8:125215191-125215192	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141900584	chr8:125215225-125215226	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Cancer	20164919	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125207200-125215000	Enhancers	Fetal Lung	lung
2	chr8:125208600-125215000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:125208600-125215000	Enhancers	Psoas Muscle	Psoas
4	chr8:125210200-125215400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr8:125211200-125215200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr8:125211800-125215000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:125212000-125215000	Enhancers	Right Ventricle	heart
8	chr8:125212800-125215200	Enhancers	HUVEC	blood vessel
9	chr8:125213400-125215000	Enhancers	Right Atrium	heart
10	chr8:125213400-125216600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:125213400-125216800	Enhancers	A549	lung
12	chr8:125213400-125219400	Weak transcription	HSMMtube	muscle
13	chr8:125213400-125219800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:125213400-125220000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:125213600-125216400	Weak transcription	NHDF-Ad	bronchial
16	chr8:125213800-125218200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:125213800-125220200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:125214000-125215000	Enhancers	Gastric	stomach
19	chr8:125214400-125215000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr8:125214400-125215800	Weak transcription	Esophagus	oesophagus
21	chr8:125214800-125215000	Enhancers	Duodenum Mucosa	Duodenum
22	chr8:125214800-125215200	Weak transcription	Fetal Heart	heart
23	chr8:125214800-125216000	Weak transcription	Left Ventricle	heart
24	chr8:125214800-125216400	Weak transcription	Spleen	Spleen
25	chr8:125214800-125219600	Weak transcription	Adipose Nuclei	Adipose
26	chr8:125214800-125220000	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:125214800-125220400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:125214800-125221200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:125215000-125215800	Weak transcription	Right Ventricle	heart
30	chr8:125215000-125216000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:125215000-125216000	Weak transcription	Right Atrium	heart
32	chr8:125215000-125220000	Weak transcription	Psoas Muscle	Psoas
33	chr8:125215200-125215400	Enhancers	Fetal Heart	heart
34	chr8:125215200-125215600	Weak transcription	Fetal Lung	lung
35	chr8:125215200-125216200	Weak transcription	HUVEC	blood vessel

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