Variant report

Variant	esv3478821
Chromosome Location	chr8:8384142-8388440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8384527..8386241-chr8:8388279..8389863,2	MCF-7	breast:
2	chr8:8384527..8386241-chr8:8388279..8389863,2	MCF-7	breast:
3	chr8:8373770..8375997-chr8:8384938..8387829,2	MCF-7	breast:

Extended variants
information (count: 240 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76436686	chr8:8384158-8384159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76185941	chr8:8384159-8384160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540826620	chr8:8384174-8384175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145232773	chr8:8384223-8384224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116129071	chr8:8384259-8384260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115191595	chr8:8384272-8384273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368686932	chr8:8384301-8384302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530723144	chr8:8384320-8384321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550892989	chr8:8384358-8384359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567445887	chr8:8384363-8384364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73504823	chr8:8384384-8384385	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs546371805	chr8:8384419-8384420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190466278	chr8:8384437-8384438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147598689	chr8:8384441-8384442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369637831	chr8:8384470-8384471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11777086	chr8:8384479-8384480	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs114950251	chr8:8384481-8384482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537436446	chr8:8384484-8384485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555293402	chr8:8384488-8384489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11781973	chr8:8384497-8384498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs536690840	chr8:8384577-8384578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556928352	chr8:8384588-8384589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560635861	chr8:8384607-8384608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6995407	chr8:8384647-8384648	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs116533601	chr8:8384661-8384662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534926122	chr8:8384669-8384670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546542103	chr8:8384675-8384676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553670374	chr8:8384692-8384693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112250136	chr8:8384693-8384694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184091888	chr8:8384709-8384710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188641154	chr8:8384713-8384714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529901394	chr8:8384728-8384729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139492600	chr8:8384730-8384731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566286332	chr8:8384732-8384733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192761244	chr8:8384742-8384743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573640077	chr8:8384786-8384787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542419586	chr8:8384800-8384801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184235414	chr8:8384810-8384811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568859442	chr8:8384817-8384818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537874714	chr8:8384848-8384849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554252996	chr8:8384850-8384851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575093598	chr8:8384860-8384861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534469023	chr8:8384880-8384881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199995114	chr8:8384906-8384907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76310740	chr8:8384922-8384923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375668887	chr8:8384926-8384927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201089776	chr8:8384927-8384928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs55885467	chr8:8384929-8384930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6601704	chr8:8384930-8384931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552958483	chr8:8384939-8384940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
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
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
low-grade B-cell lymphoma tumor	18367492	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
Colorectal cancer	16774939	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
Bladder cancer	21909424	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
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8374600-8385000	Weak transcription	Brain Germinal Matrix	brain
2	chr8:8374600-8387400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:8375600-8384400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:8376000-8388000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:8376200-8384600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:8378000-8384600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:8380000-8385200	Weak transcription	Placenta	Placenta
8	chr8:8380600-8384600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:8380600-8384600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:8380600-8384600	Weak transcription	HMEC	breast
11	chr8:8380600-8387200	Weak transcription	Fetal Heart	heart
12	chr8:8381000-8384400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:8382000-8386400	Weak transcription	HepG2	liver
14	chr8:8382400-8384600	Weak transcription	HSMMtube	muscle
15	chr8:8382400-8385000	Weak transcription	Fetal Intestine Small	intestine
16	chr8:8382400-8385200	Weak transcription	Fetal Intestine Large	intestine
17	chr8:8382400-8388000	Weak transcription	Fetal Lung	lung
18	chr8:8382600-8384200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:8382600-8384800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:8382600-8388000	Weak transcription	Liver	Liver
21	chr8:8382800-8384200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:8382800-8384400	Weak transcription	Osteobl	bone
23	chr8:8382800-8384600	Weak transcription	NH-A	brain
24	chr8:8382800-8387800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:8382800-8388000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:8383000-8384400	Weak transcription	A549	lung
27	chr8:8383000-8384600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:8383000-8384600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:8384200-8385600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:8384200-8385600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:8384400-8384800	Enhancers	A549	lung
32	chr8:8384400-8385400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:8384400-8385400	Enhancers	Osteobl	bone
34	chr8:8384400-8385600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:8384600-8384800	Enhancers	NH-A	brain
36	chr8:8384600-8385200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:8384600-8385200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:8384600-8385400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:8384600-8385400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:8384600-8385400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr8:8384600-8385400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:8384600-8385600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:8384600-8385600	Enhancers	HMEC	breast
44	chr8:8384600-8385600	Enhancers	HSMMtube	muscle
45	chr8:8384600-8385800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr8:8384800-8385200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:8384800-8385200	Weak transcription	NH-A	brain
48	chr8:8384800-8388000	Weak transcription	A549	lung
49	chr8:8385000-8385600	Enhancers	Brain Germinal Matrix	brain
50	chr8:8385200-8385400	Enhancers	Fetal Intestine Large	intestine

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