Variant report

Variant	esv3435656
Chromosome Location	chr8:100508576-100510674
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	chr8:100508680..100510316-chr8:100523382..100526217,2	MCF-7	breast:
2	chr8:100506206..100508940-chr8:100515378..100517666,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553697434	chr8:100508582-100508583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371231120	chr8:100508653-100508654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573748296	chr8:100508675-100508676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542538832	chr8:100508706-100508707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556021911	chr8:100508715-100508716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555556716	chr8:100508735-100508736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571711826	chr8:100508760-100508761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544600003	chr8:100508770-100508771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186562117	chr8:100508785-100508786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527402257	chr8:100508796-100508797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374178777	chr8:100508803-100508804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560541820	chr8:100508835-100508836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535922129	chr8:100508863-100508864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192384103	chr8:100508940-100508941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549732997	chr8:100508951-100508952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115145954	chr8:100508956-100508957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145333355	chr8:100508960-100508961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148857801	chr8:100509024-100509025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184821197	chr8:100509025-100509026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189703797	chr8:100509035-100509036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs193142455	chr8:100509117-100509118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112727569	chr8:100509193-100509194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537287264	chr8:100509198-100509199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556083019	chr8:100509239-100509240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113502519	chr8:100509338-100509339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113326810	chr8:100509339-100509340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60373317	chr8:100509357-100509358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544861853	chr8:100509373-100509374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189103626	chr8:100509407-100509408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376545655	chr8:100509419-100509420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371007322	chr8:100509422-100509423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71273184	chr8:100509443-100509444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540797062	chr8:100509444-100509445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13266871	chr8:100509495-100509496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13265304	chr8:100509496-100509497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13264604	chr8:100509500-100509501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537425456	chr8:100509519-100509520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549426527	chr8:100509524-100509525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181763882	chr8:100509533-100509534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529553857	chr8:100509591-100509592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543241118	chr8:100509663-100509664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186499094	chr8:100509674-100509675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76284983	chr8:100509676-100509677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552020332	chr8:100509680-100509681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188236057	chr8:100509688-100509689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73702021	chr8:100509694-100509695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs547612676	chr8:100509750-100509751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567416843	chr8:100509787-100509788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536297553	chr8:100509803-100509804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs3105175	chr8:100509872-100509873	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:110)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Cohen syndrome	20461111	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100473200-100510400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:100473400-100526000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:100474000-100510800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:100474400-100515400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:100487000-100512800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:100491200-100537000	Weak transcription	Placenta	Placenta
7	chr8:100493200-100510600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:100493400-100511000	Weak transcription	HSMMtube	muscle
9	chr8:100494000-100516600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:100494400-100511000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:100494400-100511200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:100494600-100511800	Weak transcription	Brain Substantia Nigra	brain
13	chr8:100495200-100511000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:100495200-100532600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:100495400-100510400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:100495400-100511000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr8:100495600-100511200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:100496000-100511000	Weak transcription	Dnd41	blood
19	chr8:100496200-100510400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:100496200-100510800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr8:100496400-100537200	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:100497400-100510800	Weak transcription	HSMM	muscle
23	chr8:100499000-100511000	Weak transcription	Thymus	Thymus
24	chr8:100499000-100511000	Weak transcription	HepG2	liver
25	chr8:100499200-100511000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:100499400-100510800	Weak transcription	Ovary	ovary
27	chr8:100499400-100535200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:100500000-100510800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr8:100500000-100511200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:100500200-100511000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:100500200-100511000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:100500400-100511000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:100503800-100536600	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:100505000-100510600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:100505000-100510800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:100505000-100534800	Weak transcription	Fetal Intestine Large	intestine
37	chr8:100505200-100509800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr8:100505200-100510600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr8:100505200-100510600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:100505200-100510800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:100505200-100510800	Weak transcription	Primary T cells from cord blood	blood
42	chr8:100505200-100510800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:100505200-100510800	Weak transcription	GM12878-XiMat	blood
44	chr8:100505200-100511000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:100505200-100511000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:100505200-100511000	Weak transcription	Liver	Liver
47	chr8:100505200-100511000	Weak transcription	Fetal Intestine Small	intestine
48	chr8:100505200-100511000	Weak transcription	Fetal Lung	lung
49	chr8:100505200-100511400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:100505200-100515800	Weak transcription	Primary T cells fromperipheralblood	blood

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