Variant report

Variant	esv3430482
Chromosome Location	chr8:1806251-1806464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZEB1	chr8:1806112-1806555	GM12878	blood:	n/a	chr8:1806338-1806347 chr8:1806326-1806335 chr8:1806314-1806323 chr8:1806302-1806311 chr8:1806374-1806383 chr8:1806362-1806371
2	ZEB1	chr8:1806181-1806521	GM12878	blood:	n/a	chr8:1806338-1806347 chr8:1806326-1806335 chr8:1806314-1806323 chr8:1806302-1806311 chr8:1806374-1806383 chr8:1806362-1806371

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1804701..1806345-chr8:1808982..1810841,2	MCF-7	breast:
2	chr8:1711323..1713781-chr8:1804428..1806395,2	MCF-7	breast:

Variant related genes	Relation type
ARHGEF10	TF binding region
ENSG00000253982	chromatin interactions
ENSG00000182372	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138043149	chr8:1806251-1806252	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs111294316	chr8:1806268-1806269	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs537190053	chr8:1806270-1806271	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs76522101	chr8:1806288-1806289	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs75038583	chr8:1806289-1806290	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs76916066	chr8:1806295-1806296	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs77453867	chr8:1806297-1806298	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs71528657	chr8:1806309-1806310	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs558780378	chr8:1806319-1806320	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs147897258	chr8:1806320-1806321	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs375251991	chr8:1806326-1806327	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs28512172	chr8:1806329-1806330	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs71211518	chr8:1806332-1806333	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs56203106	chr8:1806333-1806334	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs55847035	chr8:1806334-1806335	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs68161747	chr8:1806345-1806346	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs534718210	chr8:1806349-1806350	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs386720694	chr8:1806353-1806354	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs147384188	chr8:1806361-1806362	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs542129880	chr8:1806365-1806366	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs376516046	chr8:1806369-1806370	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs9801821	chr8:1806372-1806373	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs118016818	chr8:1806381-1806382	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs559487739	chr8:1806388-1806389	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs11331147	chr8:1806393-1806394	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs56122964	chr8:1806405-1806406	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs188978848	chr8:1806406-1806407	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs547819707	chr8:1806408-1806409	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs56179568	chr8:1806417-1806418	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs561245022	chr8:1806418-1806419	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs545934959	chr8:1806424-1806425	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs564034014	chr8:1806427-1806428	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs528155960	chr8:1806432-1806433	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs541605308	chr8:1806439-1806440	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs4875949	chr8:1806446-1806447	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs550183399	chr8:1806448-1806449	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs62477517	chr8:1806459-1806460	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:113 , 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	chr8:1791600-1811400	Weak transcription	NHDF-Ad	bronchial
6	chr8:1792800-1806800	Weak transcription	Fetal Lung	lung
7	chr8:1794200-1806400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:1794200-1807200	Weak transcription	Fetal Intestine Small	intestine
9	chr8:1794200-1807800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:1794200-1808000	Weak transcription	NHEK	skin
11	chr8:1794200-1808400	Weak transcription	HSMMtube	muscle
12	chr8:1794400-1806600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:1795800-1806800	Weak transcription	Aorta	Aorta
14	chr8:1795800-1808200	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:1796000-1806400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:1796000-1814200	Weak transcription	Colonic Mucosa	Colon
17	chr8:1796200-1806400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:1796400-1806800	Weak transcription	Ovary	ovary
19	chr8:1796600-1806400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:1796600-1806800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:1796600-1807800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:1796600-1812200	Weak transcription	Brain Germinal Matrix	brain
23	chr8:1796800-1806400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:1796800-1806400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:1796800-1806400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:1796800-1806600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:1796800-1806800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:1796800-1807200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr8:1796800-1807800	Weak transcription	HMEC	breast
30	chr8:1796800-1808000	Weak transcription	NH-A	brain
31	chr8:1797200-1815600	Weak transcription	Fetal Kidney	kidney
32	chr8:1798000-1807600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:1798800-1806800	Weak transcription	Esophagus	oesophagus
34	chr8:1798800-1806800	Weak transcription	Pancreas	Pancrea
35	chr8:1799200-1806400	Weak transcription	Osteobl	bone
36	chr8:1799600-1806400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:1799600-1807800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:1801400-1806400	Weak transcription	NHLF	lung
39	chr8:1801800-1807200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:1802000-1806800	Weak transcription	Lung	lung
41	chr8:1802000-1807000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:1802200-1806400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:1802200-1806800	Weak transcription	Gastric	stomach
44	chr8:1802200-1845000	Weak transcription	Right Atrium	heart
45	chr8:1802400-1806600	Weak transcription	Brain Angular Gyrus	brain
46	chr8:1802400-1811600	Weak transcription	Psoas Muscle	Psoas
47	chr8:1802600-1806400	Weak transcription	Brain Substantia Nigra	brain
48	chr8:1802600-1806800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:1802600-1807600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:1802600-1811200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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