Variant report

Variant	esv1377572
Chromosome Location	chr8:61598922-61598925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61595542..61601111-chr8:61606456..61610511,8	K562	blood:
2	chr8:61597723..61599279-chr8:61608776..61610801,2	K562	blood:
3	chr8:61563298..61566288-chr8:61597428..61599462,2	K562	blood:
4	chr8:61586135..61588890-chr8:61597344..61600255,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254869	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 103 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71245514	chr8:61598923-61598924	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61593400-61607200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:61594000-61599200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr8:61594000-61610400	Weak transcription	A549	lung
4	chr8:61594200-61599000	Weak transcription	Colonic Mucosa	Colon
5	chr8:61594200-61602200	Weak transcription	Fetal Brain Female	brain
6	chr8:61594200-61604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:61594200-61617600	Weak transcription	Hela-S3	cervix
8	chr8:61594400-61599200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:61594400-61599800	Enhancers	Brain Hippocampus Middle	brain
10	chr8:61594400-61600800	Enhancers	Primary T cells from cord blood	blood
11	chr8:61595800-61599800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr8:61596000-61599200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:61596000-61599400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:61596200-61599200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr8:61596800-61600000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr8:61597000-61602200	Weak transcription	Fetal Intestine Small	intestine
17	chr8:61597000-61619800	Weak transcription	HMEC	breast
18	chr8:61597200-61599000	Weak transcription	Spleen	Spleen
19	chr8:61597200-61600600	Enhancers	Primary B cells from cord blood	blood
20	chr8:61597200-61602000	Weak transcription	Fetal Intestine Large	intestine
21	chr8:61597200-61602000	Weak transcription	Fetal Lung	lung
22	chr8:61597200-61602200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:61597200-61602400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:61597200-61604200	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:61597200-61605200	Weak transcription	Esophagus	oesophagus
26	chr8:61597200-61605200	Weak transcription	Lung	lung
27	chr8:61597400-61600400	Weak transcription	Pancreas	Pancrea
28	chr8:61597400-61602000	Weak transcription	Fetal Thymus	thymus
29	chr8:61597400-61605600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:61597400-61605600	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:61597400-61607400	Weak transcription	Small Intestine	intestine
32	chr8:61597600-61601200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr8:61597600-61602400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr8:61597600-61605200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:61597800-61600200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:61597800-61600600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:61597800-61600600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr8:61597800-61602000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr8:61597800-61605200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:61597800-61605200	Weak transcription	Gastric	stomach
41	chr8:61597800-61606600	Weak transcription	Adipose Nuclei	Adipose
42	chr8:61598000-61599200	Enhancers	Brain Germinal Matrix	brain
43	chr8:61598000-61600400	Weak transcription	Fetal Heart	heart
44	chr8:61598000-61601200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:61598000-61601400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:61598000-61601400	Enhancers	GM12878-XiMat	blood
47	chr8:61598000-61601800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:61598000-61601800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:61598000-61601800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr8:61598000-61602200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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