Variant report

Variant	esv3479827
Chromosome Location	chr8:111721301-111727905
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	chr8:111712144..111713669-chr8:111724852..111727560,2	MCF-7	breast:
2	chr8:111705966..111708208-chr8:111719733..111721854,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 94 )

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	rs559118206	chr8:111726054-111726055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536933317	chr8:111726075-111726076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188614922	chr8:111726107-111726108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538272790	chr8:111726119-111726120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554657204	chr8:111726150-111726151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573925605	chr8:111726170-111726171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193151149	chr8:111726200-111726201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559181173	chr8:111726222-111726223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572715407	chr8:111726386-111726387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143882779	chr8:111726390-111726391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571896429	chr8:111726419-111726420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112935562	chr8:111726456-111726457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371107522	chr8:111726460-111726461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7817805	chr8:111726506-111726507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550589328	chr8:111726560-111726561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185610414	chr8:111726565-111726566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576624711	chr8:111726634-111726635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56409630	chr8:111726635-111726636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547335391	chr8:111726648-111726649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180738407	chr8:111726659-111726660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576031232	chr8:111726668-111726669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539266902	chr8:111726692-111726693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145425048	chr8:111726699-111726700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543061410	chr8:111726702-111726703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73315858	chr8:111726726-111726727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs184260015	chr8:111726748-111726749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537950800	chr8:111726794-111726795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539289017	chr8:111726828-111726829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552759015	chr8:111726878-111726879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188496911	chr8:111726894-111726895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77790466	chr8:111726915-111726916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367622235	chr8:111726934-111726935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7838042	chr8:111726964-111726965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11992740	chr8:111727015-111727016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs558459275	chr8:111727056-111727057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368720164	chr8:111727058-111727059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575341728	chr8:111727063-111727064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181632839	chr8:111727083-111727084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186269929	chr8:111727168-111727169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529738615	chr8:111727170-111727171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540214058	chr8:111727186-111727187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543755749	chr8:111727199-111727200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116153787	chr8:111727215-111727216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532845758	chr8:111727286-111727287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552785737	chr8:111727344-111727345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569356023	chr8:111727371-111727372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144800495	chr8:111727380-111727381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72674991	chr8:111727393-111727394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112400088	chr8:111727439-111727440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190151702	chr8:111727444-111727445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Glioblastoma multiforme	21080181	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
Cancer	20164919	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
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
Sezary syndrome	18413736	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
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111726000-111726200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:111726200-111729600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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