Variant report

Variant	esv12554
Chromosome Location	chr8:99314189-99315584
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	chr8:99219998..99222653-chr8:99315063..99317794,2	MCF-7	breast:
2	chr8:99312344..99314652-chr8:99343314..99345193,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4735549	chr8:99314190-99314191	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576873254	chr8:99314210-99314211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190585364	chr8:99314244-99314245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558948385	chr8:99314253-99314254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572535824	chr8:99314256-99314257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4735550	chr8:99314335-99314336	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs554637597	chr8:99314365-99314366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72664848	chr8:99314411-99314412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530831414	chr8:99314417-99314418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550506277	chr8:99314484-99314485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183142980	chr8:99314489-99314490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371821439	chr8:99314525-99314526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4735551	chr8:99314591-99314592	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552731759	chr8:99314611-99314612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73701156	chr8:99314692-99314693	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs189051961	chr8:99314693-99314694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16896860	chr8:99314768-99314769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559725128	chr8:99314770-99314771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568770660	chr8:99314885-99314886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386728113	chr8:99314921-99314922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79559043	chr8:99314922-99314923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373397285	chr8:99314941-99314942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79202103	chr8:99314947-99314948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577342061	chr8:99314962-99314963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539626170	chr8:99314973-99314974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138581388	chr8:99315050-99315051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193143685	chr8:99315090-99315091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182638304	chr8:99315135-99315136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11787135	chr8:99315160-99315161	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs529715257	chr8:99315212-99315213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544462330	chr8:99315229-99315230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72664850	chr8:99315270-99315271	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs57276342	chr8:99315302-99315303	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs546807240	chr8:99315340-99315341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532336534	chr8:99315350-99315351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17288751	chr8:99315476-99315477	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs528545676	chr8:99315492-99315493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149308939	chr8:99315496-99315497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565779643	chr8:99315533-99315534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556785482	chr8:99315537-99315538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537367988	chr8:99315538-99315539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17360790	chr8:99315540-99315541	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs574978197	chr8:99315542-99315543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571043448	chr8:99315543-99315544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554648142	chr8:99315574-99315575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7812348	chr8:99315582-99315583	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:109)

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
head and neck squamous cell carcinoma	19451471	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
Breast cancer	21611746	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99306800-99317000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:99306800-99317200	Weak transcription	Esophagus	oesophagus
3	chr8:99309800-99315000	Weak transcription	Right Atrium	heart
4	chr8:99310000-99316800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:99310200-99324200	Weak transcription	Fetal Heart	heart
6	chr8:99310400-99315200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:99310400-99317200	Weak transcription	Osteobl	bone
8	chr8:99310800-99317200	Weak transcription	HepG2	liver
9	chr8:99311400-99316000	Enhancers	Fetal Intestine Small	intestine
10	chr8:99311600-99314200	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:99311800-99316000	Enhancers	Fetal Intestine Large	intestine
12	chr8:99312400-99316200	Enhancers	K562	blood
13	chr8:99313000-99314800	Weak transcription	Ovary	ovary
14	chr8:99313000-99318200	Weak transcription	Stomach Mucosa	stomach
15	chr8:99313400-99314400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:99313800-99317000	Weak transcription	GM12878-XiMat	blood
17	chr8:99313800-99318000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:99314400-99315200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr8:99314800-99315400	Enhancers	Ovary	ovary
20	chr8:99315000-99315400	Enhancers	Right Atrium	heart
21	chr8:99315200-99315400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:99315200-99315600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:99315200-99318000	Weak transcription	Rectal Mucosa Donor 31	rectum

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