Variant report

Variant	esv2761429
Chromosome Location	chr8:62381604-62388093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:62381011..62381982-chr8:62475541..62476206,2	MCF-7	breast:
2	chr8:62051294..62051870-chr8:62381197..62381952,2	MCF-7	breast:
3	chr8:62155417..62156246-chr8:62381440..62381973,2	MCF-7	breast:
4	chr8:62156342..62157143-chr8:62381140..62382022,5	K562	blood:
5	chr8:62156322..62157217-chr8:62381101..62382114,8	MCF-7	breast:
6	chr8:62248249..62249123-chr8:62380724..62381961,7	MCF-7	breast:
7	chr8:62051677..62052206-chr8:62381213..62382143,4	K562	blood:
8	chr8:62156582..62157132-chr8:62381389..62382258,2	MCF-7	breast:

No data

Extended variants
information (count: 197 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16927347	chr8:62381604-62381605	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151163875	chr8:62381612-62381613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139308351	chr8:62381639-62381640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367630139	chr8:62381670-62381671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536147178	chr8:62381672-62381673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182434990	chr8:62381711-62381712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564426042	chr8:62381714-62381715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569527851	chr8:62381769-62381770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143005116	chr8:62381785-62381786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117409183	chr8:62381829-62381830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571912865	chr8:62381830-62381831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549971088	chr8:62381853-62381854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs883554	chr8:62381935-62381936	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147450691	chr8:62381967-62381968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374926988	chr8:62381971-62381972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575126606	chr8:62382052-62382053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187394112	chr8:62382070-62382071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563738699	chr8:62382113-62382114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530776062	chr8:62382117-62382118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545913852	chr8:62382123-62382124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564191892	chr8:62382150-62382151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532182791	chr8:62382173-62382174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112296881	chr8:62382282-62382283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142863226	chr8:62382407-62382408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191918160	chr8:62382432-62382433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185134209	chr8:62382481-62382482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548170848	chr8:62382499-62382500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569655808	chr8:62382506-62382507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150779440	chr8:62382554-62382555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139145194	chr8:62382556-62382557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549204953	chr8:62382596-62382597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570603635	chr8:62382663-62382664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534706992	chr8:62382744-62382745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4487757	chr8:62382763-62382764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs373496242	chr8:62382814-62382815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534562182	chr8:62382849-62382850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574921052	chr8:62382923-62382924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536159290	chr8:62382961-62382962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144170590	chr8:62383008-62383009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146519739	chr8:62383012-62383013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563268495	chr8:62383091-62383092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545748204	chr8:62383154-62383155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529652211	chr8:62383178-62383179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17788825	chr8:62383229-62383230	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs141065501	chr8:62383230-62383231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540306337	chr8:62383268-62383269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559532692	chr8:62383307-62383308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143186898	chr8:62383312-62383313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145441343	chr8:62383372-62383373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75056071	chr8:62383447-62383448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
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
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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62366800-62383200	Weak transcription	Brain Anterior Caudate	brain
2	chr8:62370600-62386600	Weak transcription	Fetal Brain Male	brain
3	chr8:62375600-62383000	Weak transcription	Fetal Brain Female	brain
4	chr8:62381200-62382600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:62381400-62381800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:62381400-62382000	Enhancers	Liver	Liver
7	chr8:62381600-62381800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr8:62381600-62382400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:62382400-62383800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:62382600-62383200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr8:62383000-62383400	Enhancers	Fetal Brain Female	brain
12	chr8:62383200-62384000	Enhancers	Brain Anterior Caudate	brain
13	chr8:62383400-62386800	Weak transcription	Fetal Brain Female	brain
14	chr8:62383800-62384000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:62384000-62385200	Weak transcription	Brain Anterior Caudate	brain
16	chr8:62385400-62385600	Enhancers	Brain Anterior Caudate	brain
17	chr8:62386800-62387000	ZNF genes & repeats	Fetal Brain Female	brain

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