Variant report

Variant	esv275517
Chromosome Location	chr8:11009873-11016516
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	chr8:11011361..11013679-chr8:11086642..11088741,2	MCF-7	breast:

Extended variants
information (count: 325 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139129934	chr8:11009875-11009876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201085057	chr8:11009890-11009891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541811335	chr8:11009905-11009906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188610166	chr8:11009922-11009923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558390361	chr8:11009950-11009951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76024174	chr8:11009956-11009957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150095856	chr8:11009989-11009990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193177920	chr8:11010011-11010012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562290959	chr8:11010060-11010061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564295499	chr8:11010088-11010089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572908773	chr8:11010113-11010114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2409714	chr8:11010118-11010119	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs561617401	chr8:11010121-11010122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529187487	chr8:11010134-11010135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2409715	chr8:11010136-11010137	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs562590834	chr8:11010171-11010172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566055378	chr8:11010339-11010340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533457829	chr8:11010368-11010369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551545145	chr8:11010442-11010443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566958811	chr8:11010445-11010446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534104583	chr8:11010469-11010470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73530522	chr8:11010477-11010478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs145087717	chr8:11010485-11010486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538563439	chr8:11010558-11010559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532722564	chr8:11010586-11010587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371916409	chr8:11010605-11010606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546211268	chr8:11010619-11010620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575349694	chr8:11010642-11010643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539426387	chr8:11010653-11010654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557541441	chr8:11010659-11010660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572913018	chr8:11010695-11010696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371800709	chr8:11010697-11010698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140652297	chr8:11010698-11010699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566614890	chr8:11010720-11010721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13248014	chr8:11010730-11010731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs573595375	chr8:11010745-11010746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2409716	chr8:11010748-11010749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs376525209	chr8:11010754-11010755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144527225	chr8:11010766-11010767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17152930	chr8:11010826-11010827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs79580392	chr8:11010835-11010836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560348413	chr8:11010901-11010902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553173295	chr8:11010906-11010907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74410294	chr8:11010910-11010911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2409717	chr8:11010974-11010975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs147863593	chr8:11011020-11011021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111590770	chr8:11011053-11011054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184440790	chr8:11011107-11011108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141564145	chr8:11011123-11011124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17152933	chr8:11011177-11011178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21390130	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10966400-11026200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:10989600-11014200	Weak transcription	Pancreas	Pancrea
3	chr8:10991800-11011800	Weak transcription	Left Ventricle	heart
4	chr8:10997200-11021000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:10997400-11011200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:10997400-11017400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:10999400-11021000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:11001600-11021000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr8:11002800-11022000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:11003000-11010000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:11005000-11015800	Weak transcription	GM12878-XiMat	blood
12	chr8:11006800-11012600	Weak transcription	HSMMtube	muscle
13	chr8:11006800-11026200	Weak transcription	HSMM	muscle
14	chr8:11009200-11010200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:11009200-11021000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:11009200-11024800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:11009800-11010200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:11009800-11021400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:11010000-11010200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr8:11010200-11014400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:11011200-11012000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr8:11011800-11012000	Enhancers	Gastric	stomach
23	chr8:11011800-11012000	Bivalent Enhancer	Left Ventricle	heart
24	chr8:11012000-11021400	Weak transcription	Gastric	stomach
25	chr8:11012000-11022400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:11012600-11013400	Enhancers	HSMMtube	muscle
27	chr8:11013200-11013400	Enhancers	Esophagus	oesophagus
28	chr8:11013200-11021000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:11013400-11016000	Weak transcription	HSMMtube	muscle
30	chr8:11013400-11026400	Weak transcription	Esophagus	oesophagus
31	chr8:11013600-11028800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:11014200-11014600	Enhancers	Pancreas	Pancrea
33	chr8:11014400-11014800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:11014600-11014800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr8:11014600-11014800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:11014600-11016800	Weak transcription	Pancreas	Pancrea
37	chr8:11014800-11016200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:11014800-11017000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:11014800-11017400	Weak transcription	Fetal Intestine Large	intestine
40	chr8:11014800-11021400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:11015400-11015600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr8:11015400-11015600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr8:11015400-11021600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:11015600-11021200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:11015600-11022400	Enhancers	Primary B cells from peripheral blood	blood
46	chr8:11015800-11016400	Genic enhancers	GM12878-XiMat	blood
47	chr8:11016000-11016400	Enhancers	HSMMtube	muscle
48	chr8:11016000-11021800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:11016200-11016600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr8:11016400-11016600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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