Variant report

Variant	esv3431639
Chromosome Location	chr8:95882341-95882583
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	chr8:95879524..95883023-chr8:95907236..95910668,3	K562	blood:

Variant related genes	Relation type
ENSG00000156170	chromatin interactions
ENSG00000175305	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375658156	chr8:95882348-95882349	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs4734285	chr8:95882365-95882366	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs184818455	chr8:95882370-95882371	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs562792406	chr8:95882373-95882374	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374358078	chr8:95882394-95882395	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs570682723	chr8:95882395-95882396	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs539704348	chr8:95882412-95882413	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188896791	chr8:95882425-95882426	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs150375456	chr8:95882469-95882470	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535558962	chr8:95882481-95882482	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs555401270	chr8:95882489-95882490	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs138243064	chr8:95882498-95882499	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs193200928	chr8:95882517-95882518	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs558114447	chr8:95882544-95882545	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs2516352	chr8:95882552-95882553	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs540914876	chr8:95882567-95882568	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs142746627	chr8:95882569-95882570	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:95847400-95890800	Weak transcription	Stomach Mucosa	stomach
6	chr8:95863200-95883000	Weak transcription	Small Intestine	intestine
7	chr8:95864200-95884800	Strong transcription	Fetal Stomach	stomach
8	chr8:95870000-95885200	Weak transcription	Brain Substantia Nigra	brain
9	chr8:95870000-95889800	Weak transcription	Esophagus	oesophagus
10	chr8:95870200-95885000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:95870200-95885000	Weak transcription	Psoas Muscle	Psoas
12	chr8:95870200-95905200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:95870600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:95871000-95886200	Weak transcription	Fetal Brain Male	brain
15	chr8:95871400-95889600	Weak transcription	NHLF	lung
16	chr8:95871600-95882800	Weak transcription	Aorta	Aorta
17	chr8:95872400-95887400	Weak transcription	Fetal Heart	heart
18	chr8:95873000-95883400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr8:95873600-95891600	Strong transcription	Fetal Intestine Large	intestine
20	chr8:95873800-95892000	Strong transcription	Thymus	Thymus
21	chr8:95873800-95898800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:95874200-95883400	Strong transcription	Liver	Liver
23	chr8:95874200-95883600	Strong transcription	Fetal Muscle Leg	muscle
24	chr8:95874200-95893000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:95874200-95894800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr8:95874200-95895200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr8:95874200-95896600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr8:95874200-95897600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:95874200-95899000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:95874400-95896200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:95874400-95896400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:95874400-95902600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:95874400-95904600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:95874600-95884200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:95874600-95886000	Strong transcription	Left Ventricle	heart
36	chr8:95874600-95888000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr8:95874600-95896200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:95874800-95886600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:95875400-95887600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:95875600-95885400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr8:95875600-95893200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:95875600-95894400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr8:95875600-95904400	Strong transcription	Fetal Thymus	thymus
44	chr8:95875800-95883800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr8:95875800-95884800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:95875800-95885000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:95875800-95895000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:95876000-95896200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:95876200-95886400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:95876200-95899200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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