Variant report

Variant	esv999317
Chromosome Location	chr8:132277222-132283036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555905683	chr8:132281812-132281813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs564921449	chr8:132281826-132281827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs201459853	chr8:132281878-132281879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs116370577	chr8:132281881-132281882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs141246256	chr8:132281888-132281889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs144958101	chr8:132281971-132281972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs368219647	chr8:132282022-132282023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs201954416	chr8:132282060-132282061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs548377808	chr8:132282089-132282090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs566505863	chr8:132282120-132282121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs184698115	chr8:132282138-132282139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs552047535	chr8:132282145-132282146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs375890707	chr8:132282156-132282157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs571343621	chr8:132282166-132282167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs61335607	chr8:132282181-132282182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs189022412	chr8:132282188-132282189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs9693699	chr8:132282277-132282278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541671963	chr8:132282318-132282319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575351576	chr8:132282337-132282338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182018866	chr8:132282358-132282359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555150101	chr8:132282366-132282367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560010359	chr8:132282376-132282377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540962108	chr8:132282387-132282388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527622908	chr8:132282398-132282399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565562419	chr8:132282427-132282428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573701348	chr8:132282450-132282451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187439418	chr8:132282451-132282452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544246225	chr8:132282475-132282476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190213890	chr8:132282539-132282540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529804505	chr8:132282548-132282549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141802439	chr8:132282575-132282576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150375804	chr8:132282576-132282577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10956585	chr8:132282591-132282592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570437655	chr8:132282593-132282594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531469289	chr8:132282638-132282639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138056550	chr8:132282662-132282663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569111793	chr8:132282664-132282665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80353031	chr8:132282669-132282670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554757261	chr8:132282759-132282760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558403444	chr8:132282776-132282777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371031337	chr8:132282777-132282778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534109863	chr8:132282804-132282805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559164402	chr8:132282807-132282808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577627516	chr8:132282812-132282813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544877144	chr8:132282841-132282842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149506635	chr8:132282870-132282871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180900682	chr8:132282876-132282877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185934715	chr8:132282877-132282878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143968264	chr8:132282896-132282897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527354707	chr8:132282989-132282990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:132281800-132282200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:132282200-132284000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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