Variant report

Variant	esv3329747
Chromosome Location	chr8:103994659-103996690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103984545..103986132-chr8:103993005..103995689,2	MCF-7	breast:
2	chr8:103987556..103990076-chr8:103994687..103996398,2	K562	blood:
3	chr8:103993083..103995018-chr8:103998506..104000574,2	MCF-7	breast:
4	chr8:103876107..103878038-chr8:103994980..103997604,2	MCF-7	breast:
5	chr8:103996495..103999134-chr8:104007444..104009301,2	MCF-7	breast:
6	chr8:103993356..103995449-chr8:103995905..103998523,2	MCF-7	breast:
7	chr8:103993356..103995449-chr8:103995905..103998523,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253320	chromatin interactions
ENSG00000155096	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35956387	chr8:103994706-103994707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572912136	chr8:103994723-103994724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142837042	chr8:103994732-103994733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72667278	chr8:103994740-103994741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs150650709	chr8:103994743-103994744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186424937	chr8:103994781-103994782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563357137	chr8:103994817-103994818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139794352	chr8:103994827-103994828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374634342	chr8:103994834-103994835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74790486	chr8:103994873-103994874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560816926	chr8:103994914-103994915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528093270	chr8:103994915-103994916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145002779	chr8:103994940-103994941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531719284	chr8:103994948-103994949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369940714	chr8:103995018-103995019	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs571894986	chr8:103995058-103995059	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs550197462	chr8:103995062-103995063	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs370596410	chr8:103995064-103995065	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs551126448	chr8:103995065-103995066	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs140569864	chr8:103995075-103995076	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs13267736	chr8:103995095-103995096	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536305890	chr8:103995117-103995118	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs554647844	chr8:103995144-103995145	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs566665013	chr8:103995188-103995189	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs190796363	chr8:103995205-103995206	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs369187695	chr8:103995272-103995273	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs181674480	chr8:103995327-103995328	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs35812210	chr8:103995336-103995337	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs13268157	chr8:103995381-103995382	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201899477	chr8:103995382-103995383	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs76907676	chr8:103995387-103995388	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200732520	chr8:103995393-103995394	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs570593102	chr8:103995399-103995400	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs573221202	chr8:103995414-103995415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs544989071	chr8:103995420-103995421	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs557074514	chr8:103995423-103995424	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs539528933	chr8:103995462-103995463	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs111663764	chr8:103995520-103995521	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs200756242	chr8:103995523-103995524	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs2513873	chr8:103995624-103995625	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560958897	chr8:103995625-103995626	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs141156051	chr8:103995638-103995639	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs146953086	chr8:103995646-103995647	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs564751809	chr8:103995734-103995735	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs150948278	chr8:103995748-103995749	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs386728373	chr8:103995749-103995750	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs562697270	chr8:103995751-103995752	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs573418347	chr8:103995753-103995754	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs530221359	chr8:103995818-103995819	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548407449	chr8:103995819-103995820	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
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
Bladder cancer	21909424	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103990400-104011400	Weak transcription	Placenta	Placenta
2	chr8:103991200-103995800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:103992800-103995800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:103993200-103995800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:103993400-104012400	Weak transcription	Spleen	Spleen
6	chr8:103993600-103994800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:103993600-103995200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr8:103993600-103995800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr8:103993800-103995600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:103993800-103995600	Weak transcription	Primary B cells from cord blood	blood
11	chr8:103994800-103999200	Enhancers	Primary B cells from peripheral blood	blood
12	chr8:103995200-103996400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:103995600-103996000	Enhancers	Primary B cells from cord blood	blood
14	chr8:103995600-103996400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:103995800-103996400	Enhancers	Primary hematopoietic stem cells	blood
16	chr8:103995800-103996400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:103995800-103996400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr8:103995800-103999400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:103996000-104001400	Weak transcription	Primary B cells from cord blood	blood
20	chr8:103996400-104001400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:103996400-104001800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:103996400-104003200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:103996400-104003200	Weak transcription	Monocytes-CD14+_RO01746	blood

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