Variant report

Variant	esv3348857
Chromosome Location	chr8:113666926-113669124
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	chr8:113659187..113660730-chr8:113666931..113668583,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532119713	chr8:113666974-113666975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376137835	chr8:113666993-113666994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529042410	chr8:113667006-113667007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548951217	chr8:113667102-113667103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565916284	chr8:113667196-113667197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182148547	chr8:113667214-113667215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554543312	chr8:113667224-113667225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536796671	chr8:113667233-113667234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551321587	chr8:113667267-113667268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371929419	chr8:113667330-113667331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370833353	chr8:113667361-113667362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186828963	chr8:113667370-113667371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77205201	chr8:113667479-113667480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200133573	chr8:113667502-113667503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555804026	chr8:113667568-113667569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192100687	chr8:113667640-113667641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140335356	chr8:113667715-113667716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183867466	chr8:113667717-113667718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535998489	chr8:113667719-113667720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs58959000	chr8:113667722-113667723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555692458	chr8:113667733-113667734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572668241	chr8:113667738-113667739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535031948	chr8:113667798-113667799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567433032	chr8:113667827-113667828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189218763	chr8:113667840-113667841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576318431	chr8:113667864-113667865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72073936	chr8:113667899-113667900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56746881	chr8:113667900-113667901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78197529	chr8:113667988-113667989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543450354	chr8:113668056-113668057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576753882	chr8:113668081-113668082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543366172	chr8:113668113-113668114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545703366	chr8:113668122-113668123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573795894	chr8:113668198-113668199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192872541	chr8:113668201-113668202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149306871	chr8:113668212-113668213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528357831	chr8:113668236-113668237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565046381	chr8:113668252-113668253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182976651	chr8:113668272-113668273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186898631	chr8:113668312-113668313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559322721	chr8:113668340-113668341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112059513	chr8:113668358-113668359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150862620	chr8:113668398-113668399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550598813	chr8:113668417-113668418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567330442	chr8:113668449-113668450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11992014	chr8:113668453-113668454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs373945894	chr8:113668513-113668514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149998099	chr8:113668522-113668523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145207636	chr8:113668545-113668546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113427728	chr8:113668598-113668599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
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
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
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113629200-113680600	Weak transcription	NHEK	skin
2	chr8:113636800-113680400	Weak transcription	HMEC	breast
3	chr8:113663400-113676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:113666400-113675800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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