Variant report

Variant	esv3523677
Chromosome Location	chr8:132090370-132094268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190603375	chr8:132090380-132090381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77991639	chr8:132090391-132090392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538955859	chr8:132090430-132090431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139285092	chr8:132090431-132090432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114458149	chr8:132090467-132090468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537700014	chr8:132090512-132090513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556953434	chr8:132090517-132090518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549952796	chr8:132090571-132090572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113107745	chr8:132090579-132090580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11778603	chr8:132090629-132090630	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187952703	chr8:132090656-132090657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566561285	chr8:132090677-132090678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142874713	chr8:132090701-132090702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11989407	chr8:132090702-132090703	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558831606	chr8:132090758-132090759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146053385	chr8:132090767-132090768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544437091	chr8:132090813-132090814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112661872	chr8:132090859-132090860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556808228	chr8:132090906-132090907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193189202	chr8:132090964-132090965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111332346	chr8:132090975-132090976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560177233	chr8:132090977-132090978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527339513	chr8:132090998-132090999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545883770	chr8:132090999-132091000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182956797	chr8:132091010-132091011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531445197	chr8:132091044-132091045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114215833	chr8:132091047-132091048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73352529	chr8:132091066-132091067	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529130439	chr8:132091067-132091068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547327783	chr8:132091104-132091105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34541345	chr8:132091147-132091148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187425635	chr8:132091173-132091174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533894274	chr8:132091183-132091184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540475165	chr8:132091185-132091186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558148439	chr8:132091193-132091194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143472332	chr8:132091197-132091198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144648874	chr8:132091204-132091205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575117420	chr8:132091215-132091216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117603421	chr8:132091237-132091238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554553224	chr8:132091239-132091240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs72716442	chr8:132091269-132091270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545443547	chr8:132091279-132091280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564124228	chr8:132091301-132091302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563026287	chr8:132091305-132091306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192569200	chr8:132091324-132091325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57140460	chr8:132091351-132091352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs561534943	chr8:132091375-132091376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529098538	chr8:132091377-132091378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547192148	chr8:132091401-132091402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79871429	chr8:132091459-132091460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
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
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	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	17603634	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
Acute myeloid leukemia	20729466	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
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
Endometrioid adenocarcinoma	16974079	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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Malignant melanoma	17260012	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastric cancer	16891809	CNVD
Colorectal cancer	19455253	CNVD
Pregnancies with abnormal ultrasound findings	21110858	CNVD
Breast cancer	19181860	CNVD
Brain cancer	19584924	CNVD
Medulloblastoma	19584924	CNVD
Follicular lymphoma	17699855	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164919	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:132079600-132093600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:132089800-132091600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:132090400-132090800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:132090400-132090800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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