Variant report

Variant	esv3401785
Chromosome Location	chr8:49986448-50018640
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:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:49986949..49989384-chr8:49993295..49995590,2	K562	blood:
2	chr8:49991750..49994604-chr8:49995400..49997837,2	K562	blood:
3	chr8:50003812..50005388-chr8:50034210..50037111,2	K562	blood:
4	chr8:49990025..49992623-chr8:49996686..49998822,3	K562	blood:
5	chr8:49991750..49994604-chr8:49995400..49997837,2	K562	blood:
6	chr8:49977011..49978877-chr8:49988078..49990673,2	K562	blood:
7	chr8:50006800..50008317-chr8:50008393..50010023,2	K562	blood:
8	chr8:49986949..49989384-chr8:49993295..49995590,2	K562	blood:
9	chr8:49990906..49993749-chr8:49994694..49997206,2	MCF-7	breast:
10	chr8:49990025..49992623-chr8:49996686..49998822,3	K562	blood:
11	chr8:50006800..50008317-chr8:50008393..50010023,2	K562	blood:
12	chr8:49990906..49993749-chr8:49994694..49997206,2	MCF-7	breast:
13	chr8:49984428..49986126-chr8:49991060..49993581,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf22-1	chr8:50013387-50013639	XLOC_006792
2	lnc-C8orf22-1	chr8:49998879-49999091	XLOC_006792

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	C8orf22	hsa-miR-124-3p	chr8:49988178-49988197
2	C8orf22	hsa-miR-124-3p	chr8:49988031-49988050

Variant related genes	Relation type
ENSG00000168333	chromatin interactions
C7orf60	miRNA target sites

Extended variants
information (count: 1289 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1289 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140788322	chr8:49986519-49986520	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs568367108	chr8:49986555-49986556	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs77929422	chr8:49986559-49986560	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs571740366	chr8:49986566-49986567	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs187828352	chr8:49986592-49986593	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs369545134	chr8:49986593-49986594	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs373243618	chr8:49986598-49986599	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs192394501	chr8:49986604-49986605	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs375078790	chr8:49986624-49986625	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs534230950	chr8:49986625-49986626	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs552652962	chr8:49986626-49986627	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs376615339	chr8:49986638-49986639	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs369149187	chr8:49986660-49986661	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs372682115	chr8:49986678-49986679	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs377716224	chr8:49986679-49986680	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs184442562	chr8:49986690-49986691	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs538898821	chr8:49986695-49986696	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs376197239	chr8:49986712-49986713	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs557509687	chr8:49986723-49986724	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs188592189	chr8:49986734-49986735	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs543334863	chr8:49986742-49986743	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs555263510	chr8:49986822-49986823	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377607585	chr8:49986824-49986825	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573279701	chr8:49986849-49986850	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144567681	chr8:49986858-49986859	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370825990	chr8:49986878-49986879	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565253124	chr8:49986925-49986926	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577250675	chr8:49986969-49986970	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111811921	chr8:49986982-49986983	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201836550	chr8:49986987-49986988	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563492382	chr8:49987002-49987003	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530751664	chr8:49987005-49987006	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375049537	chr8:49987020-49987021	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548874243	chr8:49987023-49987024	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140271227	chr8:49987027-49987028	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528096043	chr8:49987071-49987072	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192781367	chr8:49987096-49987097	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539126370	chr8:49987116-49987117	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376597217	chr8:49987117-49987118	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548245406	chr8:49987118-49987119	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571283618	chr8:49987161-49987162	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150329964	chr8:49987163-49987164	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550934468	chr8:49987197-49987198	Enhancers Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2292399	chr8:49987230-49987231	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs536798685	chr8:49987280-49987281	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs969066	chr8:49987334-49987335	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs555326580	chr8:49987338-49987339	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs184862385	chr8:49987379-49987380	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs569840667	chr8:49987432-49987433	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs35402871	chr8:49987445-49987446	Weak transcription Transcr. at gene 5' and 3'	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
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22014070	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49984600-49991400	Weak transcription	K562	blood
2	chr8:49985600-49986800	Weak transcription	Psoas Muscle	Psoas
3	chr8:49985600-49988000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
4	chr8:49986400-49988000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
5	chr8:49986800-49987200	Enhancers	Psoas Muscle	Psoas
6	chr8:49987000-49987200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:49987200-49998800	Weak transcription	Psoas Muscle	Psoas
8	chr8:49988000-49988600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
9	chr8:49988000-49989400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:49988600-49989000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
11	chr8:49988800-49989000	Enhancers	Gastric	stomach
12	chr8:49989000-49990800	Weak transcription	Gastric	stomach
13	chr8:49989000-49990800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:49990400-49992000	Enhancers	Stomach Mucosa	stomach
15	chr8:49990800-49991000	Enhancers	Gastric	stomach
16	chr8:49990800-49991600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr8:49991000-49991400	Weak transcription	Gastric	stomach
18	chr8:49991000-49991800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:49991400-49991600	Enhancers	K562	blood
20	chr8:49991400-49991800	Enhancers	Gastric	stomach
21	chr8:49991400-49992000	Enhancers	Fetal Intestine Large	intestine
22	chr8:49991600-49994200	Weak transcription	K562	blood
23	chr8:49991600-49994600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:49992000-49994800	Weak transcription	Stomach Mucosa	stomach
25	chr8:49994200-49994600	Enhancers	K562	blood
26	chr8:49994600-49995000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr8:49994800-49995000	Enhancers	Fetal Brain Male	brain
28	chr8:49994800-49995000	Enhancers	Stomach Mucosa	stomach
29	chr8:49995000-49996800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:49995200-49995600	Weak transcription	Fetal Brain Male	brain
31	chr8:49995600-49996200	Enhancers	Fetal Brain Male	brain
32	chr8:49996800-49998800	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:49998800-50004000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:50002200-50002600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr8:50002800-50007800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:50003800-50004600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr8:50004000-50004200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr8:50004200-50004400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr8:50004200-50006000	Enhancers	K562	blood
40	chr8:50004200-50006200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:50004200-50006400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr8:50004200-50006600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:50004200-50006800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr8:50004400-50004600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr8:50004400-50005000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:50004400-50006400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr8:50004600-50004800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:50004600-50005000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr8:50004600-50006000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr8:50004800-50006000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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