Variant report

Variant	esv3419789
Chromosome Location	chr8:102941226-102942474
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	chr8:102942428..102944500-chr8:102955135..102957986,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77722307	chr8:102941258-102941259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567745948	chr8:102941268-102941269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534750106	chr8:102941310-102941311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533173703	chr8:102941354-102941355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553387597	chr8:102941361-102941362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145675689	chr8:102941374-102941375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189839846	chr8:102941390-102941391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181848885	chr8:102941416-102941417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575922325	chr8:102941428-102941429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372903829	chr8:102941456-102941457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535190220	chr8:102941457-102941458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572241823	chr8:102941462-102941463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543162775	chr8:102941473-102941474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558045467	chr8:102941533-102941534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561682383	chr8:102941578-102941579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528963847	chr8:102941590-102941591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540695692	chr8:102941622-102941623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544642344	chr8:102941623-102941624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574913798	chr8:102941625-102941626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558942705	chr8:102941626-102941627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75657921	chr8:102941635-102941636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532730792	chr8:102941651-102941652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551270820	chr8:102941655-102941656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560332581	chr8:102941666-102941667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569567531	chr8:102941669-102941670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372735580	chr8:102941730-102941731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113587504	chr8:102941796-102941797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530663259	chr8:102941871-102941872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58912743	chr8:102941919-102941920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567689180	chr8:102941940-102941941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535096324	chr8:102941954-102941955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7010398	chr8:102942022-102942023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571684524	chr8:102942069-102942070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60240355	chr8:102942071-102942072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs549445997	chr8:102942072-102942073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557693350	chr8:102942078-102942079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190376209	chr8:102942097-102942098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149138455	chr8:102942103-102942104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60942694	chr8:102942113-102942114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181952557	chr8:102942155-102942156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369649662	chr8:102942271-102942272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558981292	chr8:102942278-102942279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7839949	chr8:102942317-102942318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544600442	chr8:102942340-102942341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186077103	chr8:102942365-102942366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542266898	chr8:102942374-102942375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112823473	chr8:102942390-102942391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375625572	chr8:102942462-102942463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189754537	chr8:102942467-102942468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102916200-102942600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:102920600-102956600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:102937600-102943000	Weak transcription	Fetal Brain Female	brain
4	chr8:102937800-102942600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:102937800-102943000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:102939000-102942600	Weak transcription	Psoas Muscle	Psoas
7	chr8:102939000-102944200	Weak transcription	Esophagus	oesophagus
8	chr8:102939600-102942800	Weak transcription	Right Atrium	heart
9	chr8:102939800-102942800	Weak transcription	Right Ventricle	heart
10	chr8:102939800-102944200	Weak transcription	Lung	lung
11	chr8:102940000-102942400	Weak transcription	HSMMtube	muscle
12	chr8:102940000-102942600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:102940000-102942800	Weak transcription	Left Ventricle	heart
14	chr8:102940200-102942600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:102940200-102942600	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:102940200-102942800	Weak transcription	Aorta	Aorta
17	chr8:102940400-102942800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:102940600-102942600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:102940800-102942600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:102940800-102942600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:102941000-102941400	Enhancers	Ovary	ovary
22	chr8:102941200-102942800	Weak transcription	Fetal Heart	heart
23	chr8:102941400-102942600	Weak transcription	Ovary	ovary

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