Variant report

Variant	esv3326433
Chromosome Location	chr8:39128770-39131746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:38964583..38965453-chr8:39130431..39131111,2	MCF-7	breast:
2	chr8:39130457..39132494-chr8:39133684..39136395,2	K562	blood:
3	chr8:38964712..38965432-chr8:39130166..39131088,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197140	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540399393	chr8:39128835-39128836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376659444	chr8:39128860-39128861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193121172	chr8:39128917-39128918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371465841	chr8:39128979-39128980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs33982521	chr8:39128980-39128981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35643924	chr8:39128992-39128993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560059438	chr8:39129023-39129024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540989818	chr8:39129038-39129039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs5891057	chr8:39129059-39129060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397763624	chr8:39129071-39129072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529099348	chr8:39129084-39129085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116492923	chr8:39129226-39129227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115998254	chr8:39129312-39129313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369188068	chr8:39129395-39129396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184800582	chr8:39129433-39129434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116265585	chr8:39129458-39129459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551403808	chr8:39129460-39129461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188089379	chr8:39129465-39129466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191436333	chr8:39129514-39129515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547892582	chr8:39129524-39129525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138891294	chr8:39129565-39129566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183815877	chr8:39129609-39129610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529855831	chr8:39129620-39129621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11366445	chr8:39129621-39129622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556575864	chr8:39129637-39129638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56337970	chr8:39129640-39129641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368063960	chr8:39129641-39129642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10808920	chr8:39129662-39129663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554592535	chr8:39129673-39129674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10094718	chr8:39129709-39129710	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs75268132	chr8:39129748-39129749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528041029	chr8:39129761-39129762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577732358	chr8:39129777-39129778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201762926	chr8:39129814-39129815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114421044	chr8:39129872-39129873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546500988	chr8:39129912-39129913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573705773	chr8:39129928-39129929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548971440	chr8:39130034-39130035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77273701	chr8:39130147-39130148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188585696	chr8:39130276-39130277	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150725703	chr8:39130323-39130324	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564908748	chr8:39130343-39130344	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs6474126	chr8:39130392-39130393	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547536246	chr8:39130442-39130443	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs567754006	chr8:39130493-39130494	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139017279	chr8:39130512-39130513	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149917549	chr8:39130590-39130591	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570342399	chr8:39130617-39130618	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181662759	chr8:39130707-39130708	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs115167471	chr8:39130711-39130712	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	21979893	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	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
Acute lymphoblastic leukemia	21248843	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Breast cancer	16620391	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Lung cancer	21569311	CNVD
Prader-willi syndrome	20588305	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39125600-39129200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:39129200-39131200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:39129400-39130000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr8:39129400-39130600	Enhancers	HMEC	breast
5	chr8:39129600-39130600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:39129800-39130600	Enhancers	NHEK	skin

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