Variant report

Variant	esv3374067
Chromosome Location	chr8:1782595-1785393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1770355..1772056-chr8:1783670..1785482,2	MCF-7	breast:
2	chr8:1710415..1713375-chr8:1784468..1786850,2	MCF-7	breast:
3	chr8:1784051..1785744-chr8:1790168..1791878,2	MCF-7	breast:
4	chr8:1778222..1780570-chr8:1782075..1784994,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253982	chromatin interactions
ENSG00000182372	chromatin interactions

Extended variants
information (count: 183 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375644170	chr8:1782604-1782605	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556348401	chr8:1782629-1782630	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576039682	chr8:1782630-1782631	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139561151	chr8:1782647-1782648	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578040082	chr8:1782722-1782723	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564862322	chr8:1782734-1782735	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539842271	chr8:1782752-1782753	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11786539	chr8:1782760-1782761	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs372513872	chr8:1782773-1782774	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193144373	chr8:1782780-1782781	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530029026	chr8:1782811-1782812	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549957662	chr8:1782834-1782835	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73538746	chr8:1782851-1782852	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531798704	chr8:1782864-1782865	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7387547	chr8:1782876-1782877	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs564969029	chr8:1782887-1782888	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571742009	chr8:1782896-1782897	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369316984	chr8:1782916-1782917	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147572335	chr8:1782938-1782939	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148685640	chr8:1782943-1782944	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368592117	chr8:1782987-1782988	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572349141	chr8:1782992-1782993	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540504998	chr8:1782994-1782995	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536550168	chr8:1783014-1783015	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs6558554	chr8:1783021-1783022	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576576346	chr8:1783046-1783047	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs142206574	chr8:1783047-1783048	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs558345275	chr8:1783062-1783063	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs377099122	chr8:1783084-1783085	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs141126487	chr8:1783087-1783088	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs560822653	chr8:1783099-1783100	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs78085261	chr8:1783119-1783120	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs369154296	chr8:1783174-1783175	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs56180055	chr8:1783179-1783180	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs4389987	chr8:1783202-1783203	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562447013	chr8:1783203-1783204	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs4376530	chr8:1783212-1783213	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs546026371	chr8:1783214-1783215	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs565224824	chr8:1783221-1783222	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs116341345	chr8:1783233-1783234	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs386720686	chr8:1783261-1783262	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs567343392	chr8:1783267-1783268	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs1807247	chr8:1783272-1783273	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs371068575	chr8:1783285-1783286	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs1807246	chr8:1783288-1783289	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546963812	chr8:1783298-1783299	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs570352763	chr8:1783315-1783316	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs538851229	chr8:1783346-1783347	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs185593711	chr8:1783374-1783375	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs190448253	chr8:1783388-1783389	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1772800-1789400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:1772800-1790800	Weak transcription	HSMMtube	muscle
3	chr8:1772800-1791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:1774000-1789200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:1774000-1845000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:1774600-1790200	Weak transcription	Colonic Mucosa	Colon
7	chr8:1774800-1783400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:1774800-1786000	Weak transcription	NHDF-Ad	bronchial
9	chr8:1775000-1788800	Weak transcription	Fetal Brain Female	brain
10	chr8:1775000-1790400	Weak transcription	Brain Germinal Matrix	brain
11	chr8:1775200-1792400	Weak transcription	Fetal Lung	lung
12	chr8:1778000-1786200	Weak transcription	Fetal Heart	heart
13	chr8:1778200-1786400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:1778400-1783400	Weak transcription	Aorta	Aorta
15	chr8:1778400-1790400	Weak transcription	Osteobl	bone
16	chr8:1778600-1790400	Weak transcription	HUVEC	blood vessel
17	chr8:1779200-1788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:1779200-1790400	Weak transcription	NH-A	brain
19	chr8:1780200-1786600	Weak transcription	Right Atrium	heart
20	chr8:1780200-1790800	Weak transcription	HSMM	muscle
21	chr8:1780400-1786400	Weak transcription	Left Ventricle	heart
22	chr8:1780400-1790400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:1780400-1790400	Weak transcription	NHEK	skin
24	chr8:1780600-1783000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:1780600-1783200	Weak transcription	HMEC	breast
26	chr8:1780600-1790400	Weak transcription	Esophagus	oesophagus
27	chr8:1780600-1792600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:1780600-1808800	Weak transcription	Hela-S3	cervix
29	chr8:1780800-1784000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:1781200-1782600	Enhancers	Brain Angular Gyrus	brain
31	chr8:1781200-1782600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr8:1781200-1783200	Weak transcription	A549	lung
33	chr8:1781200-1783600	Enhancers	Brain Cingulate Gyrus	brain
34	chr8:1781200-1785600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:1781400-1782600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:1781400-1782600	Weak transcription	Spleen	Spleen
37	chr8:1781400-1783600	Enhancers	Brain Hippocampus Middle	brain
38	chr8:1781600-1782600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr8:1781600-1783200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:1781600-1783400	Weak transcription	Brain Anterior Caudate	brain
41	chr8:1781600-1783600	Strong transcription	Fetal Intestine Small	intestine
42	chr8:1781600-1783600	Genic enhancers	Right Ventricle	heart
43	chr8:1781800-1782600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:1781800-1783400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:1781800-1783400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:1781800-1784800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:1781800-1785400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:1782000-1783000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:1782000-1783000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:1782000-1783400	Strong transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links