Variant report

Variant	esv1796657
Chromosome Location	chr8:103581213-103585093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103582117..103584689-chr8:103587053..103589133,2	K562	blood:
2	chr8:103583818..103585809-chr8:103666062..103667953,2	MCF-7	breast:
3	chr8:103559929..103561966-chr8:103584130..103585766,2	MCF-7	breast:
4	chr8:103580978..103581813-chr8:103597608..103598166,3	MCF-7	breast:
5	chr8:103568483..103570807-chr8:103581196..103582779,2	MCF-7	breast:
6	chr8:103581063..103582637-chr8:103818696..103820480,2	K562	blood:
7	chr8:103575313..103581780-chr8:103582663..103591933,12	MCF-7	breast:
8	chr8:103579195..103580787-chr8:103581193..103583855,2	K562	blood:
9	chr8:103583555..103586428-chr8:103613292..103614892,2	MCF-7	breast:
10	chr8:103579195..103580817-chr8:103582355..103586645,3	K562	blood:
11	chr8:103575313..103581780-chr8:103582663..103591933,12	MCF-7	breast:
12	chr8:103580000..103581988-chr8:103595356..103597962,2	K562	blood:
13	chr8:103584563..103586828-chr8:103587776..103589526,2	MCF-7	breast:
14	chr8:103422884..103425196-chr8:103583084..103585682,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104517	chromatin interactions
ENSG00000253669	chromatin interactions
ENSG00000155090	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs13263248	chr8:103581213-103581214	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146939199	chr8:103581218-103581219	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542613155	chr8:103581260-103581261	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189215545	chr8:103581296-103581297	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577231975	chr8:103581312-103581313	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10092130	chr8:103581316-103581317	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
7	rs138001068	chr8:103581325-103581326	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565210951	chr8:103581338-103581339	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533172175	chr8:103581356-103581357	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564881820	chr8:103581363-103581364	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs142112578	chr8:103581375-103581376	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569977163	chr8:103581378-103581379	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs530781782	chr8:103581386-103581387	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549297502	chr8:103581393-103581394	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567294875	chr8:103581421-103581422	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534307340	chr8:103581545-103581546	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs181577787	chr8:103581549-103581550	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571227086	chr8:103581553-103581554	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2436973	chr8:103581619-103581620	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs3018451	chr8:103581633-103581634	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575429133	chr8:103581650-103581651	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542954306	chr8:103581671-103581672	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs186597120	chr8:103581678-103581679	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529619417	chr8:103581682-103581683	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573213907	chr8:103581712-103581713	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs376572795	chr8:103581742-103581743	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs565397275	chr8:103581745-103581746	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2511738	chr8:103581748-103581749	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545230704	chr8:103581751-103581752	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563524199	chr8:103581757-103581758	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146660863	chr8:103581784-103581785	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2436972	chr8:103581839-103581840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs567427778	chr8:103581840-103581841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528111529	chr8:103581891-103581892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562480613	chr8:103581929-103581930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs190658879	chr8:103581959-103581960	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372254146	chr8:103581974-103581975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2511740	chr8:103581975-103581976	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556628945	chr8:103582056-103582057	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs117870177	chr8:103582057-103582058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536423694	chr8:103582083-103582084	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs13275932	chr8:103582090-103582091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs13276175	chr8:103582091-103582092	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs181948519	chr8:103582139-103582140	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573422448	chr8:103582203-103582204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11780165	chr8:103582256-103582257	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs186147869	chr8:103582265-103582266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs190675734	chr8:103582283-103582284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544760089	chr8:103582360-103582361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562955455	chr8:103582361-103582362	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103550800-103589000	Weak transcription	Right Atrium	heart
2	chr8:103557200-103582000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:103578800-103584600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:103579000-103581400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:103579600-103581400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:103579600-103581800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:103579800-103582200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr8:103580000-103581400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:103580000-103581400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:103580000-103581400	Enhancers	HUVEC	blood vessel
11	chr8:103580000-103581400	Enhancers	NH-A	brain
12	chr8:103580000-103581600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:103580000-103581600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:103580000-103581800	Enhancers	Spleen	Spleen
15	chr8:103580600-103581400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:103580600-103582200	Enhancers	K562	blood
17	chr8:103580800-103581800	Enhancers	GM12878-XiMat	blood
18	chr8:103580800-103584600	Weak transcription	Osteobl	bone
19	chr8:103581000-103581800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:103581000-103581800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:103581200-103581800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr8:103581200-103581800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:103581200-103581800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:103581200-103582000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr8:103581400-103581600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr8:103581400-103581600	Enhancers	Placenta	Placenta
27	chr8:103581400-103581800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:103581400-103581800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:103581400-103581800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:103581400-103581800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:103581400-103581800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:103581400-103581800	Enhancers	Adipose Nuclei	Adipose
33	chr8:103581400-103581800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr8:103581600-103582200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr8:103581600-103582200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:103581600-103585400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:103581800-103584600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:103581800-103584600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:103581800-103584600	Weak transcription	Spleen	Spleen
40	chr8:103581800-103586400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:103581800-103589200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:103582000-103582200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr8:103582000-103586400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:103582200-103591200	Weak transcription	K562	blood
45	chr8:103584200-103585000	Enhancers	GM12878-XiMat	blood
46	chr8:103584400-103584800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr8:103584600-103584800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr8:103584600-103584800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:103584600-103584800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:103584600-103584800	Enhancers	Gastric	stomach

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