Variant report

Variant	esv2226604
Chromosome Location	chr8:68094553-68094554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67976683..67978941-chr8:68094307..68096664,2	K562	blood:
2	chr8:68093632..68095325-chr8:68098007..68100821,2	K562	blood:
3	chr8:67976649..67978941-chr8:68093929..68095807,2	K562	blood:

Variant related genes	Relation type
ENSG00000104218	chromatin interactions
ENSG00000121022	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 98 )

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	rs112406408	chr8:68094553-68094554	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Cancer	16751803	CNVD
Salivary gland tumor	18059337	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	17142309	CNVD
Glioblastoma multiforme	19115005	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68074800-68106200	Weak transcription	Colonic Mucosa	Colon
2	chr8:68075000-68107200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:68075200-68136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:68075400-68102200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:68075400-68104600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:68075600-68102800	Weak transcription	Psoas Muscle	Psoas
7	chr8:68075800-68110800	Weak transcription	HepG2	liver
8	chr8:68075800-68112200	Weak transcription	Stomach Mucosa	stomach
9	chr8:68076000-68103000	Weak transcription	NHDF-Ad	bronchial
10	chr8:68076000-68107000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:68076800-68109000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:68077200-68108000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:68078800-68110400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:68084600-68098400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:68085000-68095800	Strong transcription	Fetal Lung	lung
16	chr8:68085200-68095800	Strong transcription	Dnd41	blood
17	chr8:68085400-68095600	Strong transcription	NH-A	brain
18	chr8:68086400-68096600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:68086600-68095000	Weak transcription	Hela-S3	cervix
20	chr8:68086800-68095600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:68087000-68095600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:68087000-68096000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:68087200-68095800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr8:68087200-68096000	Strong transcription	Placenta	Placenta
25	chr8:68087400-68095600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:68087400-68095600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:68087600-68095000	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr8:68087600-68095000	Strong transcription	A549	lung
29	chr8:68087800-68094600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:68088000-68105600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:68088000-68107000	Weak transcription	HUVEC	blood vessel
32	chr8:68088200-68102800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr8:68088200-68103000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:68088200-68106000	Weak transcription	Fetal Brain Male	brain
35	chr8:68088200-68107400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:68088200-68107400	Weak transcription	Spleen	Spleen
37	chr8:68088200-68110800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:68088200-68111000	Weak transcription	Fetal Kidney	kidney
39	chr8:68088200-68111600	Weak transcription	Gastric	stomach
40	chr8:68088400-68103000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:68088400-68107200	Weak transcription	Right Ventricle	heart
42	chr8:68088400-68110800	Weak transcription	Pancreas	Pancrea
43	chr8:68088400-68110800	Weak transcription	Thymus	Thymus
44	chr8:68088600-68104000	Weak transcription	NHEK	skin
45	chr8:68088600-68107400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:68088600-68107600	Weak transcription	Esophagus	oesophagus
47	chr8:68089000-68104800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr8:68089000-68105200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr8:68089000-68105200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:68089000-68105200	Weak transcription	Rectal Mucosa Donor 29	rectum

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