Variant report

Variant	esv994118
Chromosome Location	chr8:59402404-59410029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59408597..59411150-chr8:59411451..59413564,2	K562	blood:
2	chr8:59401980..59404100-chr8:59465890..59467513,2	K562	blood:
3	chr8:59378738..59380930-chr8:59402744..59404251,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CYP7A1	hsa-miR-335-5p	chr8:59402872-59402896

Variant related genes	Relation type
ENSG00000167910	chromatin interactions

Extended variants
information (count: 357 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544055338	chr8:59402407-59402408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560729993	chr8:59402433-59402434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529655781	chr8:59402453-59402454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564234367	chr8:59402454-59402455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566541464	chr8:59402468-59402469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528730699	chr8:59402469-59402470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551994884	chr8:59402494-59402495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373121662	chr8:59402505-59402506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572020495	chr8:59402539-59402540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7018333	chr8:59402570-59402571	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540810597	chr8:59402586-59402587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374270850	chr8:59402596-59402597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557594798	chr8:59402653-59402654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567569956	chr8:59402658-59402659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536625229	chr8:59402671-59402672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144261067	chr8:59402702-59402703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374556274	chr8:59402703-59402704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553223766	chr8:59402787-59402788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573275244	chr8:59402828-59402829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146855239	chr8:59402875-59402876	Weak transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
21	rs558334185	chr8:59402877-59402878	Weak transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
22	rs544650578	chr8:59402890-59402891	Weak transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
23	rs193237767	chr8:59402925-59402926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544115148	chr8:59402935-59402936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184686288	chr8:59402971-59402972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574379542	chr8:59402978-59402979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572623842	chr8:59403016-59403017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567109509	chr8:59403033-59403034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560031004	chr8:59403090-59403091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189057253	chr8:59403108-59403109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552258414	chr8:59403120-59403121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181448815	chr8:59403174-59403175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185745374	chr8:59403181-59403182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551014467	chr8:59403226-59403227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567930133	chr8:59403330-59403331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536288411	chr8:59403333-59403334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546967036	chr8:59403394-59403395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189709089	chr8:59403426-59403427	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368181476	chr8:59403427-59403428	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180955836	chr8:59403429-59403430	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558591940	chr8:59403469-59403470	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561226849	chr8:59403495-59403496	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538023814	chr8:59403525-59403526	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139749104	chr8:59403543-59403544	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs8192879	chr8:59403576-59403577	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs539896835	chr8:59403580-59403581	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560099891	chr8:59403582-59403583	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117214002	chr8:59403583-59403584	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545931947	chr8:59403682-59403683	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186006436	chr8:59403685-59403686	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Multiple myeloma	16461302	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59401000-59403400	Weak transcription	Liver	Liver
2	chr8:59402000-59404000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:59402400-59402600	Enhancers	Fetal Intestine Large	intestine
4	chr8:59402600-59403600	Weak transcription	Fetal Intestine Large	intestine
5	chr8:59403400-59407400	Strong transcription	Liver	Liver
6	chr8:59403600-59404600	Enhancers	Fetal Intestine Large	intestine
7	chr8:59403800-59404200	Enhancers	Small Intestine	intestine
8	chr8:59404000-59404600	Active TSS	Duodenum Mucosa	Duodenum
9	chr8:59404200-59405200	Weak transcription	Small Intestine	intestine
10	chr8:59405200-59405400	Enhancers	Small Intestine	intestine
11	chr8:59405400-59405600	Enhancers	Duodenum Mucosa	Duodenum
12	chr8:59407400-59408800	Weak transcription	Liver	Liver
13	chr8:59408800-59409400	Genic enhancers	Liver	Liver
14	chr8:59408800-59410000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:59409400-59411400	Flanking Active TSS	Liver	Liver
16	chr8:59410000-59415200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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