Variant report

Variant	esv3447710
Chromosome Location	chr8:95527257-95527653
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	chr8:95518061..95519974-chr8:95527304..95530203,2	MCF-7	breast:
2	chr8:95518541..95520743-chr8:95526847..95528713,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3098714	chr8:95527317-95527318	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541964390	chr8:95527319-95527320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561642498	chr8:95527345-95527346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139945987	chr8:95527346-95527347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377502968	chr8:95527362-95527363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75672221	chr8:95527374-95527375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540994283	chr8:95527385-95527386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376169104	chr8:95527393-95527394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190478149	chr8:95527394-95527395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183050576	chr8:95527449-95527450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529772007	chr8:95527478-95527479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376102911	chr8:95527483-95527484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145703554	chr8:95527488-95527489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549643235	chr8:95527489-95527490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566942643	chr8:95527508-95527509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185603676	chr8:95527509-95527510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191494373	chr8:95527525-95527526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3098715	chr8:95527526-95527527	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537858569	chr8:95527527-95527528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113461507	chr8:95527558-95527559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370241608	chr8:95527565-95527566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532218665	chr8:95527566-95527567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143699186	chr8:95527570-95527571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373863845	chr8:95527575-95527576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554103836	chr8:95527577-95527578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111923482	chr8:95527624-95527625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116390873	chr8:95527651-95527652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113191649	chr8:95527652-95527653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95493000-95549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95495200-95538400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:95495600-95541000	Weak transcription	Esophagus	oesophagus
4	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:95499400-95533400	Strong transcription	Placenta	Placenta
7	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:95501200-95541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:95511000-95527400	Weak transcription	Pancreas	Pancrea
10	chr8:95511200-95527400	Weak transcription	Gastric	stomach
11	chr8:95511200-95530600	Weak transcription	Aorta	Aorta
12	chr8:95512600-95527800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:95513600-95530000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:95515000-95527600	Weak transcription	Ovary	ovary
15	chr8:95515600-95534200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:95516200-95534000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:95516800-95554600	Strong transcription	Fetal Thymus	thymus
18	chr8:95517200-95530400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:95517400-95527600	Weak transcription	Spleen	Spleen
20	chr8:95517400-95528000	Weak transcription	Right Ventricle	heart
21	chr8:95517600-95538600	Weak transcription	Fetal Brain Male	brain
22	chr8:95517600-95540200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:95518000-95530600	Weak transcription	Small Intestine	intestine
24	chr8:95518000-95534000	Weak transcription	Psoas Muscle	Psoas
25	chr8:95518800-95534000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:95519000-95527600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:95519000-95530400	Weak transcription	Fetal Heart	heart
28	chr8:95520400-95529000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr8:95520400-95530400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:95520400-95532200	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:95520400-95532400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:95520400-95532800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:95520400-95532800	Strong transcription	Fetal Intestine Large	intestine
34	chr8:95520400-95534600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:95520400-95534800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:95520400-95534800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:95520400-95535000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:95520400-95535000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr8:95520400-95555200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr8:95520600-95527400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:95520600-95527800	Strong transcription	Primary T cells from cord blood	blood
42	chr8:95520600-95528400	Strong transcription	Adipose Nuclei	Adipose
43	chr8:95520600-95528400	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:95520600-95528800	Strong transcription	Fetal Lung	lung
45	chr8:95520600-95532200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr8:95520600-95534400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr8:95520600-95534600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:95520600-95536000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr8:95520600-95552400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:95520800-95527800	Strong transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links