Variant report

Variant	esv11254
Chromosome Location	chr8:1797568-1798743
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	chr8:1792966..1795761-chr8:1797297..1800005,2	MCF-7	breast:

Extended variants
information (count: 114 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573689710	chr8:1797574-1797575	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372609670	chr8:1797577-1797578	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567177015	chr8:1797580-1797581	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542615038	chr8:1797592-1797593	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563167657	chr8:1797601-1797602	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs531926130	chr8:1797617-1797618	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs545716497	chr8:1797648-1797649	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs565312811	chr8:1797649-1797650	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs148058399	chr8:1797650-1797651	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs11775159	chr8:1797655-1797656	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs547504085	chr8:1797667-1797668	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs560971338	chr8:1797668-1797669	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs200383823	chr8:1797677-1797678	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs529670301	chr8:1797705-1797706	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs549536782	chr8:1797754-1797755	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs569900691	chr8:1797755-1797756	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs538542441	chr8:1797766-1797767	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs11775187	chr8:1797767-1797768	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565535546	chr8:1797780-1797781	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs534547020	chr8:1797782-1797783	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs553802415	chr8:1797784-1797785	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs573818139	chr8:1797786-1797787	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs536210138	chr8:1797788-1797789	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs556266503	chr8:1797796-1797797	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs576409977	chr8:1797811-1797812	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545373144	chr8:1797838-1797839	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565610364	chr8:1797841-1797842	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572627821	chr8:1797842-1797843	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117892095	chr8:1797874-1797875	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541650648	chr8:1797883-1797884	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73176769	chr8:1797887-1797888	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs529831967	chr8:1797924-1797925	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549883669	chr8:1797937-1797938	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113155510	chr8:1797938-1797939	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563116974	chr8:1797950-1797951	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184019347	chr8:1797974-1797975	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113789749	chr8:1797975-1797976	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201181671	chr8:1797982-1797983	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552179442	chr8:1798002-1798003	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77483399	chr8:1798004-1798005	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146041789	chr8:1798005-1798006	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs58689407	chr8:1798027-1798028	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60649723	chr8:1798028-1798029	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565647286	chr8:1798030-1798031	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374027800	chr8:1798047-1798048	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534482345	chr8:1798054-1798055	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367903414	chr8:1798068-1798069	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111552074	chr8:1798071-1798072	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs60698967	chr8:1798104-1798105	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs56095401	chr8:1798128-1798129	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
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
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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1774000-1845000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:1780600-1808800	Weak transcription	Hela-S3	cervix
3	chr8:1790000-1816400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:1791200-1806400	Weak transcription	HSMM	muscle
5	chr8:1791600-1802400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:1791600-1802400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:1791600-1802600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:1791600-1811400	Weak transcription	NHDF-Ad	bronchial
9	chr8:1792800-1806800	Weak transcription	Fetal Lung	lung
10	chr8:1794000-1797800	Weak transcription	Pancreas	Pancrea
11	chr8:1794200-1802600	Weak transcription	HUVEC	blood vessel
12	chr8:1794200-1806400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:1794200-1807200	Weak transcription	Fetal Intestine Small	intestine
14	chr8:1794200-1807800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:1794200-1808000	Weak transcription	NHEK	skin
16	chr8:1794200-1808400	Weak transcription	HSMMtube	muscle
17	chr8:1794400-1799000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:1794400-1801800	Weak transcription	Spleen	Spleen
19	chr8:1794400-1806600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:1794800-1800600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:1795600-1800800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:1795800-1797600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:1795800-1798400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:1795800-1798800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:1795800-1798800	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:1795800-1801600	Weak transcription	Brain Angular Gyrus	brain
27	chr8:1795800-1801800	Weak transcription	Right Atrium	heart
28	chr8:1795800-1806800	Weak transcription	Aorta	Aorta
29	chr8:1795800-1808200	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:1796000-1798600	Weak transcription	Osteobl	bone
31	chr8:1796000-1799000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:1796000-1801400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:1796000-1806000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:1796000-1806400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:1796000-1814200	Weak transcription	Colonic Mucosa	Colon
36	chr8:1796200-1799000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:1796200-1806400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:1796400-1799000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:1796400-1806200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:1796400-1806800	Weak transcription	Ovary	ovary
41	chr8:1796600-1797600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:1796600-1797600	Weak transcription	NHLF	lung
43	chr8:1796600-1798800	Weak transcription	Adipose Nuclei	Adipose
44	chr8:1796600-1801000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:1796600-1801400	Weak transcription	Brain Substantia Nigra	brain
46	chr8:1796600-1801400	Weak transcription	Left Ventricle	heart
47	chr8:1796600-1801600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:1796600-1806400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:1796600-1806800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr8:1796600-1807800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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