Variant report

Variant	esv3521568
Chromosome Location	chr8:117828050-117830508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117821087..117823936-chr8:117828583..117831214,3	K562	blood:
2	chr8:117827651..117829253-chr8:117830596..117833306,2	K562	blood:
3	chr8:117823218..117824824-chr8:117826875..117829516,2	K562	blood:
4	chr8:117826321..117829062-chr8:117831572..117834580,3	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540840011	chr8:117828050-117828051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144499294	chr8:117828082-117828083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116007057	chr8:117828099-117828100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116220240	chr8:117828102-117828103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60843964	chr8:117828150-117828151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530666217	chr8:117828163-117828164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552313259	chr8:117828165-117828166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570518202	chr8:117828176-117828177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201141905	chr8:117828183-117828184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149021234	chr8:117828211-117828212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546861250	chr8:117828239-117828240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568761020	chr8:117828303-117828304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77661820	chr8:117828314-117828315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183962378	chr8:117828322-117828323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575243239	chr8:117828348-117828349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143085328	chr8:117828398-117828399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557851751	chr8:117828422-117828423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77267944	chr8:117828455-117828456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541254958	chr8:117828493-117828494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73701496	chr8:117828524-117828525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532305376	chr8:117828625-117828626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574724699	chr8:117828649-117828650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188510192	chr8:117828694-117828695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140319234	chr8:117828735-117828736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73701497	chr8:117828818-117828819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs78492336	chr8:117828880-117828881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62512680	chr8:117828881-117828882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs78138946	chr8:117828892-117828893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547217108	chr8:117828972-117828973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568550740	chr8:117829013-117829014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563849134	chr8:117829020-117829021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62512681	chr8:117829054-117829055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs552575684	chr8:117829063-117829064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370598496	chr8:117829071-117829072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370649093	chr8:117829080-117829081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114950943	chr8:117829081-117829082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138096214	chr8:117829096-117829097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552029000	chr8:117829098-117829099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190696631	chr8:117829099-117829100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143772819	chr8:117829109-117829110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566984490	chr8:117829118-117829119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534032447	chr8:117829147-117829148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553175676	chr8:117829183-117829184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565557744	chr8:117829243-117829244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76893623	chr8:117829255-117829256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565751553	chr8:117829299-117829300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146149072	chr8:117829300-117829301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373093986	chr8:117829392-117829393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557318283	chr8:117829435-117829436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182935633	chr8:117829486-117829487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:143)

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
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
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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	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
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Glioblastoma multiforme	18628472	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117780400-117830200	Weak transcription	Aorta	Aorta
2	chr8:117830200-117830400	ZNF genes & repeats	Aorta	Aorta
3	chr8:117830400-117835000	Weak transcription	Aorta	Aorta

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