Variant report

Variant	esv3409817
Chromosome Location	chr8:117823471-117825619
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	chr8:117821087..117823936-chr8:117828583..117831214,3	K562	blood:
2	chr8:117823218..117824824-chr8:117826875..117829516,2	K562	blood:

Extended variants
information (count: 138 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373661386	chr8:117823496-117823497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559431247	chr8:117823497-117823498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11294339	chr8:117823499-117823500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540392320	chr8:117823515-117823516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58631269	chr8:117823524-117823525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397891449	chr8:117823525-117823526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs33966714	chr8:117823526-117823527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370085928	chr8:117823532-117823533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540257596	chr8:117823570-117823571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554222643	chr8:117823577-117823578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561504582	chr8:117823583-117823584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140006463	chr8:117823637-117823638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375813523	chr8:117823641-117823642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2317587	chr8:117823709-117823710	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533353081	chr8:117823729-117823730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551534820	chr8:117823730-117823731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566842134	chr8:117823746-117823747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12548242	chr8:117823763-117823764	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549388833	chr8:117823785-117823786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114953435	chr8:117823788-117823789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563108592	chr8:117823815-117823816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115552461	chr8:117823821-117823822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556382885	chr8:117823840-117823841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114482857	chr8:117823849-117823850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539659841	chr8:117823850-117823851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11784677	chr8:117823912-117823913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115353562	chr8:117823952-117823953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529694362	chr8:117823972-117823973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116830051	chr8:117823976-117823977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562566172	chr8:117823983-117823984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78104820	chr8:117824030-117824031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544148704	chr8:117824036-117824037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562267493	chr8:117824043-117824044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149190397	chr8:117824117-117824118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545234392	chr8:117824118-117824119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370489896	chr8:117824147-117824148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560293760	chr8:117824149-117824150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75627631	chr8:117824155-117824156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146868295	chr8:117824159-117824160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111971797	chr8:117824166-117824167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531628041	chr8:117824172-117824173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376649436	chr8:117824173-117824174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571802336	chr8:117824193-117824194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199561195	chr8:117824229-117824230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs66767003	chr8:117824240-117824241	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190511400	chr8:117824242-117824243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55772098	chr8:117824256-117824257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539113595	chr8:117824259-117824260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181723359	chr8:117824269-117824270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199574290	chr8:117824272-117824273	Enhancers 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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117780400-117830200	Weak transcription	Aorta	Aorta
2	chr8:117819000-117823800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:117819000-117824600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:117819200-117824600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:117821600-117824000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:117821800-117824200	Enhancers	Fetal Muscle Leg	muscle
7	chr8:117822200-117826400	Weak transcription	Psoas Muscle	Psoas
8	chr8:117823000-117825000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:117823400-117824600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:117823800-117824600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:117824000-117824200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:117824000-117825000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:117824600-117824800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr8:117824600-117824800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:117824600-117824800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:117824600-117825000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:117825600-117827800	Enhancers	Pancreatic Islets	Pancreatic Islet

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