Variant report

Variant	esv3383502
Chromosome Location	chr8:49991448-50020707
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:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 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	chr8:49991750..49994604-chr8:49995400..49997837,2	K562	blood:
4	chr8:49990025..49992623-chr8:49996686..49998822,3	K562	blood:
5	chr8:50019288..50021191-chr8:50037884..50039646,2	K562	blood:
6	chr8:49990906..49993749-chr8:49994694..49997206,2	MCF-7	breast:
7	chr8:50003812..50005388-chr8:50034210..50037111,2	K562	blood:
8	chr8:50006800..50008317-chr8:50008393..50010023,2	K562	blood:
9	chr8:49990906..49993749-chr8:49994694..49997206,2	MCF-7	breast:
10	chr8:49984428..49986126-chr8:49991060..49993581,2	K562	blood:
11	chr8:49990025..49992623-chr8:49996686..49998822,3	K562	blood:
12	chr8:50006800..50008317-chr8:50008393..50010023,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 1159 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1159 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116952962	chr8:49991456-49991457	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs190224839	chr8:49991497-49991498	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs76255570	chr8:49991517-49991518	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565932111	chr8:49991540-49991541	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs341804	chr8:49991553-49991554	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs534575856	chr8:49991565-49991566	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75751197	chr8:49991566-49991567	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569460882	chr8:49991609-49991610	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570056456	chr8:49991646-49991647	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536742711	chr8:49991650-49991651	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555007140	chr8:49991653-49991654	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7835618	chr8:49991719-49991720	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs16939404	chr8:49991724-49991725	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553404286	chr8:49991726-49991727	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs10504071	chr8:49991733-49991734	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs146876724	chr8:49991740-49991741	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563670112	chr8:49991791-49991792	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531066911	chr8:49991794-49991795	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543147480	chr8:49991798-49991799	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368586140	chr8:49991799-49991800	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561340166	chr8:49991838-49991839	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs16939405	chr8:49991888-49991889	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547555057	chr8:49991916-49991917	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs144528078	chr8:49991919-49991920	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546884235	chr8:49991968-49991969	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185224658	chr8:49991970-49991971	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs146657234	chr8:49991982-49991983	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs11990854	chr8:49992048-49992049	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs569322006	chr8:49992108-49992109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs189693621	chr8:49992123-49992124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375119383	chr8:49992180-49992181	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533975343	chr8:49992197-49992198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557850001	chr8:49992227-49992228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571225035	chr8:49992278-49992279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553936771	chr8:49992290-49992291	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553249691	chr8:49992333-49992334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577023694	chr8:49992351-49992352	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534938636	chr8:49992360-49992361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553509017	chr8:49992488-49992489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs578220281	chr8:49992532-49992533	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539310251	chr8:49992596-49992597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs557646588	chr8:49992622-49992623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs575732167	chr8:49992623-49992624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs546002071	chr8:49992695-49992696	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs140250760	chr8:49992727-49992728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537127715	chr8:49992735-49992736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568236887	chr8:49992796-49992797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540917507	chr8:49992818-49992819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs559491874	chr8:49992821-49992822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182348388	chr8:49992899-49992900	Weak transcription	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
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22014070	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49987200-49998800	Weak transcription	Psoas Muscle	Psoas
2	chr8:49990400-49992000	Enhancers	Stomach Mucosa	stomach
3	chr8:49990800-49991600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr8:49991000-49991800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:49991400-49991600	Enhancers	K562	blood
6	chr8:49991400-49991800	Enhancers	Gastric	stomach
7	chr8:49991400-49992000	Enhancers	Fetal Intestine Large	intestine
8	chr8:49991600-49994200	Weak transcription	K562	blood
9	chr8:49991600-49994600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:49992000-49994800	Weak transcription	Stomach Mucosa	stomach
11	chr8:49994200-49994600	Enhancers	K562	blood
12	chr8:49994600-49995000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:49994800-49995000	Enhancers	Fetal Brain Male	brain
14	chr8:49994800-49995000	Enhancers	Stomach Mucosa	stomach
15	chr8:49995000-49996800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:49995200-49995600	Weak transcription	Fetal Brain Male	brain
17	chr8:49995600-49996200	Enhancers	Fetal Brain Male	brain
18	chr8:49996800-49998800	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:49998800-50004000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:50002200-50002600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:50002800-50007800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:50003800-50004600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr8:50004000-50004200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr8:50004200-50004400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr8:50004200-50006000	Enhancers	K562	blood
26	chr8:50004200-50006200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:50004200-50006400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:50004200-50006600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:50004200-50006800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:50004400-50004600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr8:50004400-50005000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:50004400-50006400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr8:50004600-50004800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:50004600-50005000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr8:50004600-50006000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr8:50004800-50006000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:50004800-50006200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr8:50005000-50005200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr8:50005000-50005200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr8:50005000-50005600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr8:50005200-50007600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr8:50005200-50009200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:50005600-50006000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:50005600-50006000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr8:50006000-50007600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:50006000-50008200	Weak transcription	K562	blood
47	chr8:50006200-50006800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:50006800-50007000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr8:50007600-50008200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:50007600-50008200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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