Variant report

Variant	esv3514415
Chromosome Location	chr8:8384842-8388090
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	chr8:8384527..8386241-chr8:8388279..8389863,2	MCF-7	breast:
2	chr8:8373770..8375997-chr8:8384938..8387829,2	MCF-7	breast:

Extended variants
information (count: 183 )
Associated
traits (count: 137 )

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	rs537874714	chr8:8384848-8384849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554252996	chr8:8384850-8384851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575093598	chr8:8384860-8384861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534469023	chr8:8384880-8384881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199995114	chr8:8384906-8384907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76310740	chr8:8384922-8384923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375668887	chr8:8384926-8384927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201089776	chr8:8384927-8384928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs55885467	chr8:8384929-8384930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6601704	chr8:8384930-8384931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552958483	chr8:8384939-8384940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71537841	chr8:8384949-8384950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201935960	chr8:8384950-8384951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554414148	chr8:8384974-8384975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371544863	chr8:8384994-8384995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138073898	chr8:8385005-8385006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546415435	chr8:8385010-8385011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563027241	chr8:8385024-8385025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187143287	chr8:8385037-8385038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562085878	chr8:8385051-8385052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78566330	chr8:8385074-8385075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115820780	chr8:8385099-8385100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529940059	chr8:8385161-8385162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574485062	chr8:8385184-8385185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76039896	chr8:8385219-8385220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564506264	chr8:8385239-8385240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74890576	chr8:8385295-8385296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73504829	chr8:8385302-8385303	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552067191	chr8:8385325-8385326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7000407	chr8:8385336-8385337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs531275336	chr8:8385337-8385338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552067825	chr8:8385339-8385340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548191837	chr8:8385344-8385345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568014332	chr8:8385350-8385351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375191451	chr8:8385356-8385357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114284069	chr8:8385362-8385363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114824551	chr8:8385370-8385371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565621215	chr8:8385373-8385374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528318427	chr8:8385396-8385397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556443322	chr8:8385398-8385399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377540915	chr8:8385404-8385405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576501290	chr8:8385435-8385436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149667015	chr8:8385466-8385467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116754208	chr8:8385520-8385521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11776995	chr8:8385547-8385548	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs541026309	chr8:8385594-8385595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375269026	chr8:8385602-8385603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560046371	chr8:8385675-8385676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532259403	chr8:8385700-8385701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145446762	chr8:8385717-8385718	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:105 , 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	chr8:8376000-8388000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:8380000-8385200	Weak transcription	Placenta	Placenta
5	chr8:8380600-8387200	Weak transcription	Fetal Heart	heart
6	chr8:8382000-8386400	Weak transcription	HepG2	liver
7	chr8:8382400-8385000	Weak transcription	Fetal Intestine Small	intestine
8	chr8:8382400-8385200	Weak transcription	Fetal Intestine Large	intestine
9	chr8:8382400-8388000	Weak transcription	Fetal Lung	lung
10	chr8:8382600-8388000	Weak transcription	Liver	Liver
11	chr8:8382800-8387800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:8382800-8388000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:8384200-8385600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:8384200-8385600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:8384400-8385400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:8384400-8385400	Enhancers	Osteobl	bone
17	chr8:8384400-8385600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:8384600-8385200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:8384600-8385200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr8:8384600-8385400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:8384600-8385400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:8384600-8385400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:8384600-8385400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:8384600-8385600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:8384600-8385600	Enhancers	HMEC	breast
26	chr8:8384600-8385600	Enhancers	HSMMtube	muscle
27	chr8:8384600-8385800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr8:8384800-8385200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:8384800-8385200	Weak transcription	NH-A	brain
30	chr8:8384800-8388000	Weak transcription	A549	lung
31	chr8:8385000-8385600	Enhancers	Brain Germinal Matrix	brain
32	chr8:8385200-8385400	Enhancers	Fetal Intestine Large	intestine
33	chr8:8385200-8385400	Enhancers	HSMM	muscle
34	chr8:8385200-8385400	Enhancers	NH-A	brain
35	chr8:8385200-8386000	Enhancers	Placenta	Placenta
36	chr8:8385200-8387200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:8385200-8388000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:8385200-8388600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:8385400-8387200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:8385400-8387800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:8385400-8388000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:8385400-8388000	Weak transcription	HSMM	muscle
43	chr8:8385400-8388000	Weak transcription	NH-A	brain
44	chr8:8385400-8388000	Weak transcription	Osteobl	bone
45	chr8:8385400-8388200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:8385600-8387400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:8385600-8387400	Weak transcription	HSMMtube	muscle
48	chr8:8385600-8387600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:8385600-8387600	Weak transcription	Brain Germinal Matrix	brain
50	chr8:8385600-8389000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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