Variant report

Variant	esv3346665
Chromosome Location	chr8:89221136-89222934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550144133	chr8:89221180-89221181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185727106	chr8:89221198-89221199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532621229	chr8:89221219-89221220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116312590	chr8:89221230-89221231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373470665	chr8:89221231-89221232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187975592	chr8:89221414-89221415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533988766	chr8:89221446-89221447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555643035	chr8:89221584-89221585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567563786	chr8:89221586-89221587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537779615	chr8:89221598-89221599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180931286	chr8:89221629-89221630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34721672	chr8:89221645-89221646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530248037	chr8:89221646-89221647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556108191	chr8:89221652-89221653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549174593	chr8:89221662-89221663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185340658	chr8:89221761-89221762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374278695	chr8:89221850-89221851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374119467	chr8:89221853-89221854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71526924	chr8:89221854-89221855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113252558	chr8:89221856-89221857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368396008	chr8:89221857-89221858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57377943	chr8:89221870-89221871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59406315	chr8:89221875-89221876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568399841	chr8:89221877-89221878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62524471	chr8:89221899-89221900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62524472	chr8:89221900-89221901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62524473	chr8:89221904-89221905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372347342	chr8:89221905-89221906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202098408	chr8:89221906-89221907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368780749	chr8:89221911-89221912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113510426	chr8:89221912-89221913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59439493	chr8:89221913-89221914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143356630	chr8:89221915-89221916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146214940	chr8:89221923-89221924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74305797	chr8:89221962-89221963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542802940	chr8:89222020-89222021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557268727	chr8:89222026-89222027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532007898	chr8:89222073-89222074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543790546	chr8:89222098-89222099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565246671	chr8:89222114-89222115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532408648	chr8:89222179-89222180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34230949	chr8:89222183-89222184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547872744	chr8:89222204-89222205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149882037	chr8:89222215-89222216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530266020	chr8:89222257-89222258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373248353	chr8:89222262-89222263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564245983	chr8:89222268-89222269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75588133	chr8:89222286-89222287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113186824	chr8:89222317-89222318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575512515	chr8:89222377-89222378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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	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
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
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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89215200-89227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr8:89217800-89222400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:89217800-89231400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:89218200-89222000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:89218200-89223800	Weak transcription	NH-A	brain
6	chr8:89218800-89224200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:89220000-89223600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:89220000-89227600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:89220200-89222600	Weak transcription	Fetal Intestine Large	intestine
10	chr8:89220200-89227800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:89220600-89227600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:89220600-89227800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:89222000-89222800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:89222400-89223600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:89222600-89224600	Enhancers	Fetal Intestine Large	intestine

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