Variant report

Variant	esv1794842
Chromosome Location	chr8:65123560-65145957
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:65121358..65123984-chr8:65128022..65129951,3	K562	blood:
2	chr8:65121358..65123984-chr8:65128022..65129951,3	K562	blood:
3	chr8:65125718..65128574-chr8:65129073..65131314,2	K562	blood:
4	chr8:65125718..65128574-chr8:65129073..65131314,2	K562	blood:
5	chr20:45282955..45284476-chr8:65144448..65146443,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP7B1-6	chr8:65143113-65143173	ENSG00000253554.1
2	lnc-CYP7B1-6	chr8:65143113-65143176	ENSG00000253554.1

No data

Extended variants
information (count: 836 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:836 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146532472	chr8:65123560-65123561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184133937	chr8:65123595-65123596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553749004	chr8:65123602-65123603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7008352	chr8:65123661-65123662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536558679	chr8:65123668-65123669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554795201	chr8:65123709-65123710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188141344	chr8:65123722-65123723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141000059	chr8:65123733-65123734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565025740	chr8:65123741-65123742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576839827	chr8:65123769-65123770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541066232	chr8:65123780-65123781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555657985	chr8:65123817-65123818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572280179	chr8:65123850-65123851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28521674	chr8:65123871-65123872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529670494	chr8:65123963-65123964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548528174	chr8:65124016-65124017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149500534	chr8:65124084-65124085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372821479	chr8:65124085-65124086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557964490	chr8:65124144-65124145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578042943	chr8:65124158-65124159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73686888	chr8:65124180-65124181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs180850289	chr8:65124205-65124206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11992818	chr8:65124209-65124210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs144736713	chr8:65124226-65124227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571760456	chr8:65124269-65124270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138671680	chr8:65124325-65124326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547445926	chr8:65124373-65124374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559664508	chr8:65124408-65124409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528426262	chr8:65124472-65124473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78814725	chr8:65124480-65124481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536216428	chr8:65124583-65124584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554858537	chr8:65124617-65124618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35039051	chr8:65124695-65124696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76362908	chr8:65124696-65124697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576645476	chr8:65124701-65124702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34219210	chr8:65124712-65124713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537677961	chr8:65124723-65124724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558878777	chr8:65124751-65124752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576910610	chr8:65124755-65124756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541134920	chr8:65124756-65124757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374491550	chr8:65124767-65124768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186094954	chr8:65124785-65124786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574503530	chr8:65124849-65124850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11782839	chr8:65124938-65124939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs371715569	chr8:65125007-65125008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550414615	chr8:65125073-65125074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543500265	chr8:65125107-65125108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556904745	chr8:65125128-65125129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563605706	chr8:65125130-65125131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530712786	chr8:65125152-65125153	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
T-cell prolymphocytic leukemia	17713554	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65119000-65133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:65132400-65134200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:65133600-65134600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:65134200-65134800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:65134600-65137200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:65134800-65138400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:65137200-65137400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:65137200-65139200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:65137400-65138000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:65138000-65139200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:65138400-65139000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:65138400-65139200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:65138600-65139000	Enhancers	Fetal Brain Male	brain
14	chr8:65139200-65146000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:65145800-65146000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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