Variant report

Variant	esv3479859
Chromosome Location	chr8:114056493-114058776
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	chr8:114054367..114057149-chr8:114057315..114060001,2	MCF-7	breast:
2	chr8:114054367..114057149-chr8:114057315..114060001,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1947854	chr8:114056871-114056872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564907617	chr8:114056874-114056875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201664833	chr8:114057003-114057004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1504337	chr8:114057015-114057016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566988313	chr8:114057018-114057019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529726520	chr8:114057048-114057049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185180814	chr8:114057080-114057081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1504336	chr8:114057108-114057109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535367174	chr8:114057283-114057284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558126469	chr8:114057324-114057325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539882340	chr8:114057330-114057331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139957580	chr8:114057425-114057426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537019570	chr8:114057468-114057469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149746484	chr8:114057484-114057485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574217780	chr8:114057553-114057554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538170322	chr8:114057555-114057556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60747060	chr8:114057576-114057577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs77256234	chr8:114057723-114057724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557783493	chr8:114057736-114057737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534874611	chr8:114057779-114057780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35002217	chr8:114057890-114057891	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs73702279	chr8:114057909-114057910	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs545293304	chr8:114057918-114057919	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs565007260	chr8:114057941-114057942	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs181136741	chr8:114057965-114057966	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs74602982	chr8:114057987-114057988	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs16884296	chr8:114058004-114058005	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533958425	chr8:114058009-114058010	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs184726393	chr8:114058032-114058033	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs546277981	chr8:114058044-114058045	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs559528875	chr8:114058064-114058065	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs528627659	chr8:114058068-114058069	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs188720617	chr8:114058163-114058164	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs571813977	chr8:114058165-114058166	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs113396549	chr8:114058176-114058177	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs560194438	chr8:114058193-114058194	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs551021572	chr8:114058227-114058228	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180750756	chr8:114058265-114058266	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185201197	chr8:114058300-114058301	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78827770	chr8:114058406-114058407	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs536754770	chr8:114058437-114058438	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs142298143	chr8:114058453-114058454	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs573015991	chr8:114058477-114058478	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs542396092	chr8:114058505-114058506	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs538421621	chr8:114058528-114058529	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs147897504	chr8:114058547-114058548	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs575479102	chr8:114058558-114058559	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557492849	chr8:114058562-114058563	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs13260719	chr8:114058600-114058601	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs189189484	chr8:114058613-114058614	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114056800-114057000	Enhancers	Fetal Brain Male	brain
2	chr8:114057000-114057600	Weak transcription	Fetal Brain Male	brain
3	chr8:114057600-114058400	Enhancers	Fetal Brain Male	brain
4	chr8:114057800-114059200	Active TSS	Hela-S3	cervix
5	chr8:114058200-114058600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr8:114058200-114058600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr8:114058200-114058800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr8:114058200-114059200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:114058400-114059000	Active TSS	HepG2	liver
10	chr8:114058600-114059200	Active TSS	A549	lung

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