Variant report

Variant	esv3427025
Chromosome Location	chr8:57843674-57845453
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	chr8:57844913..57847717-chr8:57870990..57872662,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184881391	chr8:57843710-57843711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386725737	chr8:57843745-57843746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112994719	chr8:57843746-57843747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7830225	chr8:57843747-57843748	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547039326	chr8:57843763-57843764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34317701	chr8:57843767-57843768	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7813476	chr8:57843768-57843769	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141758433	chr8:57843800-57843801	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs114698885	chr8:57843804-57843805	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs555469541	chr8:57843846-57843847	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs372594753	chr8:57843849-57843850	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs7817368	chr8:57843906-57843907	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577056239	chr8:57843934-57843935	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs558121245	chr8:57843944-57843945	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs188306119	chr8:57843952-57843953	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs180698229	chr8:57843966-57843967	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569895962	chr8:57844001-57844002	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs184708416	chr8:57844011-57844012	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs7830753	chr8:57844065-57844066	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541973011	chr8:57844081-57844082	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs189208925	chr8:57844084-57844085	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs527906658	chr8:57844102-57844103	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs541209982	chr8:57844133-57844134	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs564481172	chr8:57844138-57844139	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs533452952	chr8:57844160-57844161	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs550402521	chr8:57844208-57844209	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs555659934	chr8:57844246-57844247	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs576329105	chr8:57844331-57844332	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs115240108	chr8:57844333-57844334	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs906538	chr8:57844348-57844349	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs182038418	chr8:57844368-57844369	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs565765103	chr8:57844537-57844538	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs534857962	chr8:57844541-57844542	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs10504213	chr8:57844655-57844656	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11778868	chr8:57844660-57844661	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs571376427	chr8:57844721-57844722	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs186915594	chr8:57844725-57844726	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs35128371	chr8:57844730-57844731	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs557184638	chr8:57844731-57844732	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs115043863	chr8:57844755-57844756	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs541797890	chr8:57844777-57844778	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs34824364	chr8:57844791-57844792	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs555475190	chr8:57844794-57844795	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs541147848	chr8:57844805-57844806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531041387	chr8:57844870-57844871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541273815	chr8:57844873-57844874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564527589	chr8:57844893-57844894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374860509	chr8:57844910-57844911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190149676	chr8:57844946-57844947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543782042	chr8:57844973-57844974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Bipolar disorder	19114987	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57831000-57849600	Weak transcription	Pancreas	Pancrea
2	chr8:57841800-57843800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:57841800-57843800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:57841800-57843800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:57841800-57843800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:57841800-57844000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:57841800-57844000	Weak transcription	NHLF	lung
8	chr8:57841800-57844200	Weak transcription	Brain Anterior Caudate	brain
9	chr8:57842800-57844800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:57843000-57844200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:57843200-57844000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:57843200-57844600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:57843200-57844600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:57843200-57844600	Enhancers	Fetal Muscle Leg	muscle
15	chr8:57843200-57844600	Enhancers	Fetal Stomach	stomach
16	chr8:57843400-57843800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:57843400-57844000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:57843400-57844000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:57843400-57844200	Enhancers	Colon Smooth Muscle	Colon
20	chr8:57843400-57844600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:57843400-57844600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr8:57843600-57843800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr8:57843600-57843800	Enhancers	Stomach Smooth Muscle	stomach
24	chr8:57843600-57844000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:57843600-57844000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:57843600-57844000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:57843600-57844000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:57843600-57844200	Enhancers	Osteobl	bone
29	chr8:57843600-57844600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr8:57843600-57844600	Enhancers	Adipose Nuclei	Adipose
31	chr8:57843600-57852800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:57843800-57844000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr8:57843800-57844000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:57843800-57844200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:57843800-57844200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr8:57843800-57844400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:57843800-57844400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:57843800-57844600	Enhancers	H9 Cell Line	embryonic stem cell
39	chr8:57843800-57844600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:57843800-57844800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:57844000-57844400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:57844000-57844400	Flanking Active TSS	NHLF	lung
43	chr8:57844000-57844600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:57844000-57844600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:57844000-57844600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:57844000-57844600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr8:57844000-57844600	Enhancers	Brain Cingulate Gyrus	brain
48	chr8:57844000-57844800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr8:57844000-57844800	Enhancers	Fetal Lung	lung
50	chr8:57844000-57850000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links