Variant report

Variant	esv3446800
Chromosome Location	chr8:95794623-95795076
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	chr8:95794630..95797325-chr8:95807437..95809002,2	K562	blood:
2	chr8:95789722..95791429-chr8:95793074..95795753,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156162	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146815326	chr8:95794652-95794653	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571034730	chr8:95794692-95794693	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532292055	chr8:95794713-95794714	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs75526510	chr8:95794754-95794755	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs4548145	chr8:95794762-95794763	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs189936067	chr8:95794778-95794779	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554586283	chr8:95794860-95794861	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377066089	chr8:95794879-95794880	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs550096183	chr8:95794892-95794893	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149828183	chr8:95794894-95794895	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6471492	chr8:95794975-95794976	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536929113	chr8:95794984-95794985	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558376235	chr8:95794994-95794995	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140680420	chr8:95795030-95795031	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576620528	chr8:95795043-95795044	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Acute lymphoblastic leukemia	18458336	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
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95733000-95803800	Weak transcription	Psoas Muscle	Psoas
2	chr8:95733000-95805200	Weak transcription	Colonic Mucosa	Colon
3	chr8:95733200-95805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:95733600-95809400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:95733800-95806400	Weak transcription	Fetal Brain Male	brain
6	chr8:95740800-95799000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:95752400-95809200	Weak transcription	NHLF	lung
8	chr8:95752600-95805600	Weak transcription	NHEK	skin
9	chr8:95761800-95803600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:95767600-95795000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:95773200-95804800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:95773600-95809400	Weak transcription	HSMMtube	muscle
13	chr8:95773800-95802600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:95774000-95798000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:95774800-95799800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:95774800-95803200	Weak transcription	Fetal Heart	heart
17	chr8:95776200-95797800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:95776200-95803800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:95777400-95804000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:95778600-95802600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:95780800-95808000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:95781200-95800800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:95783400-95798000	Strong transcription	Osteobl	bone
24	chr8:95784200-95801200	Weak transcription	Brain Germinal Matrix	brain
25	chr8:95785000-95796200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:95785000-95799400	Weak transcription	Brain Substantia Nigra	brain
27	chr8:95785000-95802400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:95785000-95803800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:95785000-95804600	Weak transcription	Right Ventricle	heart
30	chr8:95785000-95809800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:95785200-95803200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:95785200-95805000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr8:95785800-95809200	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:95786200-95803800	Weak transcription	Small Intestine	intestine
35	chr8:95786200-95811600	Weak transcription	Spleen	Spleen
36	chr8:95786200-95812800	Weak transcription	Gastric	stomach
37	chr8:95786400-95809600	Weak transcription	Lung	lung
38	chr8:95786600-95802400	Weak transcription	Esophagus	oesophagus
39	chr8:95786600-95807800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:95786800-95796600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:95789200-95804400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:95789400-95796000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:95789400-95799200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr8:95789600-95794800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:95789600-95796400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:95789600-95797800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:95789600-95797800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:95789600-95798000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:95789600-95798000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:95789600-95804400	Strong transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links