Variant report

Variant	esv3395290
Chromosome Location	chr8:48674299-48678697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48649995..48651833-chr8:48673119..48675757,2	K562	blood:
2	chr8:48676909..48680225-chr8:48682804..48685612,3	K562	blood:
3	chr8:48674421..48677276-chr8:48679644..48681662,2	K562	blood:

Variant related genes	Relation type
ENSG00000221869	chromatin interactions

Extended variants
information (count: 189 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577771014	chr8:48674386-48674387	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545509493	chr8:48674394-48674395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185003674	chr8:48674413-48674414	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146308009	chr8:48674420-48674421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543080524	chr8:48674431-48674432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561143088	chr8:48674465-48674466	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528756781	chr8:48674472-48674473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs546984030	chr8:48674559-48674560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201483913	chr8:48674563-48674564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs202053331	chr8:48674568-48674569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565433775	chr8:48674571-48674572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371418311	chr8:48674572-48674573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs202191116	chr8:48674575-48674576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs188672216	chr8:48674596-48674597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569438501	chr8:48674597-48674598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139063459	chr8:48674601-48674602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141576176	chr8:48674602-48674603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191594090	chr8:48674612-48674613	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534872171	chr8:48674622-48674623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs34012427	chr8:48674704-48674705	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35337893	chr8:48674706-48674707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs553033635	chr8:48674728-48674729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577910558	chr8:48674729-48674730	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150425544	chr8:48674745-48674746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557477238	chr8:48674758-48674759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs564995970	chr8:48674873-48674874	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201961468	chr8:48674936-48674937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374520930	chr8:48674942-48674943	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575776667	chr8:48674943-48674944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542779356	chr8:48674951-48674952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561292456	chr8:48674952-48674953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs573162224	chr8:48675021-48675022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540908961	chr8:48675030-48675031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs565484724	chr8:48675031-48675032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532545052	chr8:48675035-48675036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543187025	chr8:48675069-48675070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544436609	chr8:48675085-48675086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562757948	chr8:48675095-48675096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs530493181	chr8:48675105-48675106	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs367975565	chr8:48675127-48675128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs114507183	chr8:48675150-48675151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567243856	chr8:48675213-48675214	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs35696974	chr8:48675250-48675251	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs397755053	chr8:48675252-48675253	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540643405	chr8:48675356-48675357	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs528121209	chr8:48675382-48675383	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546852582	chr8:48675438-48675439	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571603993	chr8:48675451-48675452	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs538951737	chr8:48675458-48675459	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs2725287	chr8:48675485-48675486	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	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
Breast cancer	17142309	CNVD
22q11 deletion syndrome	20357662	CNVD
Autism	20531469	CNVD

Chromatin state (count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48665200-48676000	Weak transcription	A549	lung
2	chr8:48665400-48675800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:48672600-48675400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:48672600-48676200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:48673000-48675400	Weak transcription	Esophagus	oesophagus
6	chr8:48673000-48676000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:48673000-48676200	Weak transcription	K562	blood
8	chr8:48673200-48675400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:48673400-48676200	Weak transcription	HSMM	muscle
10	chr8:48673400-48676400	Weak transcription	HepG2	liver
11	chr8:48674000-48675600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:48674000-48684400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:48674600-48677400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:48674800-48677800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:48674800-48684400	Weak transcription	Dnd41	blood
16	chr8:48674800-48686200	Weak transcription	Brain Substantia Nigra	brain
17	chr8:48674800-48686400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:48675000-48686600	Weak transcription	HSMMtube	muscle
19	chr8:48675200-48675400	Enhancers	Adipose Nuclei	Adipose
20	chr8:48675200-48675800	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr8:48675200-48676000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:48675200-48676000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:48675200-48676000	Enhancers	Placenta	Placenta
24	chr8:48675200-48676000	Weak transcription	Gastric	stomach
25	chr8:48675200-48676000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr8:48675200-48676400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr8:48675200-48678200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:48675200-48684200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:48675200-48686600	Weak transcription	Brain Angular Gyrus	brain
30	chr8:48675400-48675600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:48675400-48675600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:48675400-48675600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:48675400-48675600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:48675400-48675600	Active TSS	Esophagus	oesophagus
35	chr8:48675400-48675600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr8:48675400-48675800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:48675400-48675800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr8:48675400-48675800	Active TSS	NHEK	skin
39	chr8:48675400-48676000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr8:48675400-48676000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:48675400-48676000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr8:48675400-48676000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
43	chr8:48675400-48676400	Enhancers	Spleen	Spleen
44	chr8:48675400-48677400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:48675600-48675800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:48675600-48675800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:48675600-48675800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:48675600-48675800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:48675600-48675800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:48675600-48675800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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