Variant report

Variant	esv3420511
Chromosome Location	chr8:122211271-122216069
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	chr8:122208844..122212408-chr8:122215420..122219626,5	MCF-7	breast:
2	chr8:122208844..122212408-chr8:122215420..122219626,5	MCF-7	breast:

Extended variants
information (count: 283 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79618078	chr8:122211297-122211298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560493515	chr8:122211317-122211318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529325141	chr8:122211330-122211331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376168481	chr8:122211370-122211371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190232350	chr8:122211384-122211385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs16894892	chr8:122211411-122211412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs531918929	chr8:122211417-122211418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16894895	chr8:122211433-122211434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11427419	chr8:122211505-122211506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200558262	chr8:122211507-122211508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113769278	chr8:122211508-122211509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571604789	chr8:122211530-122211531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542928749	chr8:122211533-122211534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534262470	chr8:122211534-122211535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140922259	chr8:122211546-122211547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150201301	chr8:122211609-122211610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535173105	chr8:122211649-122211650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139336947	chr8:122211671-122211672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141905678	chr8:122211685-122211686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180975064	chr8:122211750-122211751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544370509	chr8:122211793-122211794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372378837	chr8:122211802-122211803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558029093	chr8:122211839-122211840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528871066	chr8:122211859-122211860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75021248	chr8:122211907-122211908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147114517	chr8:122211942-122211943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561488111	chr8:122211979-122211980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560483941	chr8:122211986-122211987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529305920	chr8:122211987-122211988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542691662	chr8:122212002-122212003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59990004	chr8:122212066-122212067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112400502	chr8:122212076-122212077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531759742	chr8:122212090-122212091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551551655	chr8:122212116-122212117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73324907	chr8:122212161-122212162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs115623967	chr8:122212187-122212188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185853944	chr8:122212204-122212205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10087156	chr8:122212242-122212243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541166173	chr8:122212268-122212269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373097633	chr8:122212296-122212297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77850016	chr8:122212330-122212331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375833004	chr8:122212341-122212342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568927644	chr8:122212352-122212353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143935308	chr8:122212363-122212364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7815968	chr8:122212386-122212387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs577937175	chr8:122212397-122212398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534048893	chr8:122212406-122212407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7815980	chr8:122212416-122212417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573882472	chr8:122212437-122212438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372199921	chr8:122212440-122212441	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
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	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
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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	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
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122203800-122213400	Weak transcription	Fetal Lung	lung
2	chr8:122208800-122213400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:122213400-122213600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:122213400-122213800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:122213400-122213800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:122213400-122213800	Enhancers	Esophagus	oesophagus
7	chr8:122213400-122213800	Active TSS	Fetal Heart	heart
8	chr8:122213400-122213800	ZNF genes & repeats	Fetal Kidney	kidney
9	chr8:122213400-122213800	ZNF genes & repeats	Fetal Lung	lung
10	chr8:122213400-122213800	ZNF genes & repeats	Pancreas	Pancrea
11	chr8:122213400-122213800	ZNF genes & repeats	Dnd41	blood
12	chr8:122213400-122214000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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