Variant report

Variant	esv3327619
Chromosome Location	chr8:114698979-114741570
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:114728056..114730786-chr8:114735490..114737141,2	MCF-7	breast:
2	chr8:114726767..114728382-chr8:114731029..114732643,2	K562	blood:
3	chr8:114726767..114728382-chr8:114731029..114732643,2	K562	blood:
4	chr8:114728056..114730786-chr8:114735490..114737141,2	MCF-7	breast:

Extended variants
information (count: 280 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:280 , 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	rs551338190	chr8:114698993-114698994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571353508	chr8:114698994-114698995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537341090	chr8:114699003-114699004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184255035	chr8:114699040-114699041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147700274	chr8:114699091-114699092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536026248	chr8:114699100-114699101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553238663	chr8:114699112-114699113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189066740	chr8:114699163-114699164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545171694	chr8:114699238-114699239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181240103	chr8:114699308-114699309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536091553	chr8:114699324-114699325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544201527	chr8:114699363-114699364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550954161	chr8:114699373-114699374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17692270	chr8:114699383-114699384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs80162762	chr8:114699394-114699395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549148608	chr8:114699403-114699404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559547405	chr8:114699438-114699439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528560926	chr8:114699443-114699444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551500045	chr8:114699462-114699463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7816794	chr8:114699486-114699487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536998108	chr8:114699504-114699505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553221783	chr8:114699523-114699524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550968873	chr8:114699531-114699532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572980796	chr8:114699544-114699545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144863656	chr8:114699549-114699550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7833423	chr8:114699562-114699563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs558423359	chr8:114699583-114699584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116699929	chr8:114699587-114699588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573118019	chr8:114699648-114699649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575147202	chr8:114699663-114699664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556232203	chr8:114699672-114699673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544107760	chr8:114699685-114699686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186739831	chr8:114699731-114699732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575322920	chr8:114699741-114699742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145844200	chr8:114699871-114699872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149007637	chr8:114699893-114699894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563728029	chr8:114699911-114699912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10505206	chr8:114699938-114699939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10505207	chr8:114700007-114700008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs75964615	chr8:114700021-114700022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576438274	chr8:114700045-114700046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565206606	chr8:114700053-114700054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11985454	chr8:114700064-114700065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532698681	chr8:114700072-114700073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188974774	chr8:114700112-114700113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143430776	chr8:114700128-114700129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530008518	chr8:114700198-114700199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200041015	chr8:114700201-114700202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35101308	chr8:114700212-114700213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74790441	chr8:114700213-114700214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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
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
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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	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
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114698200-114703400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr8:114698200-114703600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:114703400-114704800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:114703600-114704800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr8:114703600-114705000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr8:114704200-114704600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:114706600-114706800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:114706600-114706800	ZNF genes & repeats	Esophagus	oesophagus
9	chr8:114706600-114706800	ZNF genes & repeats	Pancreas	Pancrea
10	chr8:114724200-114724400	Enhancers	Lung	lung
11	chr8:114739400-114739800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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