Variant report

Variant	esv3377498
Chromosome Location	chr8:48553227-48553817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201004712	chr8:48553240-48553241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148773111	chr8:48553241-48553242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs60369030	chr8:48553254-48553255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202126742	chr8:48553255-48553256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535308892	chr8:48553262-48553263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373113079	chr8:48553271-48553272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566164703	chr8:48553276-48553277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555886442	chr8:48553279-48553280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28568374	chr8:48553306-48553307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7463108	chr8:48553309-48553310	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs28572097	chr8:48553313-48553314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28667649	chr8:48553315-48553316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543637021	chr8:48553335-48553336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370768332	chr8:48553339-48553340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544107333	chr8:48553341-48553342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556130905	chr8:48553342-48553343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28688784	chr8:48553347-48553348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556249629	chr8:48553362-48553363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199596001	chr8:48553375-48553376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386725048	chr8:48553376-48553377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71225691	chr8:48553445-48553446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57405701	chr8:48553447-48553448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576075756	chr8:48553450-48553451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574274785	chr8:48553474-48553475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541615647	chr8:48553495-48553496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559950387	chr8:48553540-48553541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527396302	chr8:48553567-48553568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28674171	chr8:48553577-48553578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575865843	chr8:48553596-48553597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187111887	chr8:48553627-48553628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531237839	chr8:48553633-48553634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549652946	chr8:48553659-48553660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191669881	chr8:48553707-48553708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182230556	chr8:48553712-48553713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186469646	chr8:48553727-48553728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192586682	chr8:48553731-48553732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539946015	chr8:48553798-48553799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551613531	chr8:48553806-48553807	Weak transcription Enhancers Strong transcription	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
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	17142309	CNVD
22q11 deletion syndrome	20357662	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48512200-48556600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
3	chr8:48523800-48572200	Weak transcription	Primary B cells from cord blood	blood
4	chr8:48525800-48556200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:48535600-48554200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:48535800-48554000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:48540600-48556600	Weak transcription	Right Ventricle	heart
8	chr8:48540800-48556000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:48541000-48554400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:48541200-48556400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:48541600-48556600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:48543600-48556000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:48543800-48554200	Weak transcription	Aorta	Aorta
14	chr8:48543800-48556600	Weak transcription	Liver	Liver
15	chr8:48543800-48556600	Weak transcription	Gastric	stomach
16	chr8:48543800-48559400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:48544000-48554200	Weak transcription	Fetal Intestine Large	intestine
18	chr8:48545600-48554000	Weak transcription	Fetal Stomach	stomach
19	chr8:48546000-48554200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:48546000-48556400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:48546000-48557600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:48546200-48554200	Weak transcription	Spleen	Spleen
23	chr8:48546200-48556000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr8:48546200-48556600	Weak transcription	A549	lung
25	chr8:48546200-48562000	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:48546400-48553800	Weak transcription	Fetal Lung	lung
27	chr8:48546400-48554600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:48546400-48556400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:48546400-48556600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:48546400-48562800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:48546600-48554200	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:48546600-48556000	Weak transcription	Esophagus	oesophagus
33	chr8:48546600-48556400	Weak transcription	HepG2	liver
34	chr8:48547000-48556600	Weak transcription	Pancreas	Pancrea
35	chr8:48547400-48554200	Weak transcription	Lung	lung
36	chr8:48547400-48554200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:48547400-48554400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:48547400-48556400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:48547400-48556600	Weak transcription	Left Ventricle	heart
40	chr8:48547600-48556600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:48549000-48554000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr8:48549200-48554200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr8:48549200-48556600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:48549600-48556200	Weak transcription	Dnd41	blood
45	chr8:48551200-48556600	Weak transcription	Right Atrium	heart
46	chr8:48551400-48554000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:48551600-48554200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:48551600-48556600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:48551800-48556400	Weak transcription	Colon Smooth Muscle	Colon
50	chr8:48551800-48556400	Weak transcription	Fetal Heart	heart

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