Variant report

Variant	esv2754469
Chromosome Location	chr8:115836040-115844268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:115841518..115843650-chr8:115845521..115848142,3	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553821398	chr8:115840817-115840818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2124101	chr8:115840835-115840836	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530711728	chr8:115840847-115840848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542794505	chr8:115840950-115840951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186874104	chr8:115840964-115840965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531601179	chr8:115840988-115840989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543823075	chr8:115841010-115841011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2124102	chr8:115841033-115841034	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190945102	chr8:115841060-115841061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73702650	chr8:115841124-115841125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138780637	chr8:115841160-115841161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565833597	chr8:115841172-115841173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530235496	chr8:115841216-115841217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548335622	chr8:115841241-115841242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76100115	chr8:115841303-115841304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532889639	chr8:115841340-115841341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10481129	chr8:115841345-115841346	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559186818	chr8:115841363-115841364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571194832	chr8:115841389-115841390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62514161	chr8:115841408-115841409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs72672097	chr8:115841420-115841421	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183540855	chr8:115841429-115841430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542857746	chr8:115841436-115841437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568813640	chr8:115841474-115841475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112386325	chr8:115841480-115841481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543388816	chr8:115841535-115841536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192812600	chr8:115841556-115841557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10955733	chr8:115841571-115841572	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs541370136	chr8:115841585-115841586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546184573	chr8:115841616-115841617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185326807	chr8:115841664-115841665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs62514162	chr8:115841684-115841685	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs569948918	chr8:115841692-115841693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556386369	chr8:115841701-115841702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573242523	chr8:115841702-115841703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552641288	chr8:115841703-115841704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187853756	chr8:115841710-115841711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538261993	chr8:115841733-115841734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553766465	chr8:115841768-115841769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565801423	chr8:115841774-115841775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536382907	chr8:115841777-115841778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541705201	chr8:115841824-115841825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35470481	chr8:115841929-115841930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs56382619	chr8:115841936-115841937	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs10481130	chr8:115841939-115841940	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs115389402	chr8:115841968-115841969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149388878	chr8:115841987-115841988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143757704	chr8:115841991-115841992	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164919	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115840800-115842000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr8:115841000-115841800	Enhancers	HUVEC	blood vessel

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