Variant report

Variant	esv3437816
Chromosome Location	chr8:54858949-54862897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 211 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537995870	chr8:54858978-54858979	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs17301329	chr8:54858981-54858982	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574807716	chr8:54859011-54859012	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs543590851	chr8:54859012-54859013	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs540703115	chr8:54859027-54859028	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs16919699	chr8:54859029-54859030	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576820828	chr8:54859043-54859044	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs370814589	chr8:54859110-54859111	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs186695963	chr8:54859181-54859182	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs562796375	chr8:54859193-54859194	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs542589579	chr8:54859212-54859213	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143598129	chr8:54859252-54859253	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531892691	chr8:54859273-54859274	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150995697	chr8:54859282-54859283	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542024515	chr8:54859300-54859301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140668088	chr8:54859321-54859322	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562330006	chr8:54859412-54859413	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193003318	chr8:54859446-54859447	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546663873	chr8:54859495-54859496	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566617437	chr8:54859502-54859503	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146998651	chr8:54859507-54859508	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552209424	chr8:54859544-54859545	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569135642	chr8:54859599-54859600	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185663260	chr8:54859618-54859619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554594200	chr8:54859629-54859630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572947079	chr8:54859647-54859648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111329694	chr8:54859653-54859654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568232111	chr8:54859673-54859674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540318657	chr8:54859681-54859682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533789126	chr8:54859695-54859696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565046725	chr8:54859703-54859704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553849099	chr8:54859727-54859728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10092079	chr8:54859728-54859729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34229139	chr8:54859753-54859754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12544036	chr8:54859754-54859755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184638241	chr8:54859756-54859757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576300795	chr8:54859762-54859763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188562130	chr8:54859776-54859777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12547037	chr8:54859811-54859812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13255096	chr8:54859839-54859840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191020385	chr8:54859844-54859845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532520296	chr8:54859847-54859848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541268390	chr8:54859853-54859854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10092283	chr8:54859872-54859873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200433734	chr8:54859890-54859891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201757238	chr8:54859912-54859913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13264028	chr8:54859940-54859941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74502135	chr8:54859944-54859945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13256708	chr8:54859960-54859961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370265150	chr8:54859968-54859969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54851200-54872600	Weak transcription	Brain Germinal Matrix	brain
2	chr8:54852200-54872600	Weak transcription	Fetal Brain Female	brain
3	chr8:54852400-54872600	Weak transcription	Esophagus	oesophagus
4	chr8:54853800-54869000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:54854600-54859200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:54856400-54889400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:54857400-54859600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:54857600-54859000	Active TSS	A549	lung
9	chr8:54857800-54859000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:54858000-54859000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:54858000-54859000	Enhancers	Placenta	Placenta
12	chr8:54858000-54859200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:54858000-54863600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:54858000-54867800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:54858000-54870800	Weak transcription	Brain Anterior Caudate	brain
16	chr8:54858000-54870800	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:54858000-54871400	Weak transcription	Primary B cells from cord blood	blood
18	chr8:54858000-54872000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:54858200-54859000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:54858200-54859400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr8:54858200-54859400	Enhancers	HUVEC	blood vessel
22	chr8:54858200-54859600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:54858200-54868400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:54858200-54872200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr8:54858200-54872600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:54858200-54872600	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:54858200-54879000	Weak transcription	Right Atrium	heart
28	chr8:54858400-54859000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:54858400-54859000	Enhancers	NHDF-Ad	bronchial
30	chr8:54858400-54859200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:54858400-54859200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:54858400-54859200	Weak transcription	Adipose Nuclei	Adipose
33	chr8:54858400-54859200	Weak transcription	NH-A	brain
34	chr8:54858400-54859400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:54858400-54859400	Enhancers	GM12878-XiMat	blood
36	chr8:54858400-54859400	Enhancers	HSMMtube	muscle
37	chr8:54858400-54859600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:54858400-54859600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:54858400-54859600	Enhancers	HSMM	muscle
40	chr8:54858400-54859600	Enhancers	K562	blood
41	chr8:54858400-54871400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:54858400-54872600	Weak transcription	Lung	lung
43	chr8:54858600-54859400	Enhancers	HepG2	liver
44	chr8:54858600-54859600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:54858600-54859600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr8:54858600-54859600	Enhancers	Hela-S3	cervix
47	chr8:54858600-54859600	Enhancers	NHEK	skin
48	chr8:54858600-54859600	Enhancers	Osteobl	bone
49	chr8:54858600-54865400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:54858800-54859000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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