Variant report

Variant	esv3325193
Chromosome Location	chr8:52425482-52432306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 245 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558046104	chr8:52425488-52425489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145249166	chr8:52425492-52425493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369833188	chr8:52425495-52425496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371080983	chr8:52425496-52425497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34056357	chr8:52425497-52425498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555120900	chr8:52425519-52425520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540101569	chr8:52425524-52425525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369762497	chr8:52425543-52425544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565214264	chr8:52425559-52425560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143383746	chr8:52425585-52425586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185672722	chr8:52425632-52425633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553041877	chr8:52425667-52425668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577520971	chr8:52425670-52425671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190766840	chr8:52425721-52425722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550768235	chr8:52425800-52425801	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs563359654	chr8:52425815-52425816	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs530641499	chr8:52425828-52425829	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs182952200	chr8:52425883-52425884	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs117847452	chr8:52425930-52425931	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs146715587	chr8:52425990-52425991	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs140427955	chr8:52426009-52426010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566244857	chr8:52426111-52426112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187300750	chr8:52426182-52426183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72638044	chr8:52426192-52426193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570060567	chr8:52426215-52426216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529735827	chr8:52426225-52426226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150369814	chr8:52426231-52426232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567124406	chr8:52426357-52426358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145211575	chr8:52426444-52426445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75442171	chr8:52426487-52426488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112144048	chr8:52426503-52426504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577874350	chr8:52426558-52426559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538598602	chr8:52426592-52426593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566115105	chr8:52426654-52426655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556659312	chr8:52426694-52426695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575343892	chr8:52426702-52426703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542735054	chr8:52426712-52426713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552132435	chr8:52426725-52426726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10097136	chr8:52426739-52426740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs370224491	chr8:52426770-52426771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574238084	chr8:52426794-52426795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541272851	chr8:52426856-52426857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149135506	chr8:52426885-52426886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370078052	chr8:52426947-52426948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533438333	chr8:52426968-52426969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552086324	chr8:52426975-52426976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531673983	chr8:52426995-52426996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78511079	chr8:52427018-52427019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2979125	chr8:52427020-52427021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538012081	chr8:52427057-52427058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Lung cancer	18438408	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
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52424000-52425800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr8:52424000-52427400	Weak transcription	Fetal Kidney	kidney
3	chr8:52424400-52425600	Weak transcription	Right Atrium	heart
4	chr8:52424800-52425800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:52425200-52426000	Enhancers	Right Ventricle	heart
6	chr8:52425400-52425800	Enhancers	Left Ventricle	heart
7	chr8:52425600-52426000	Enhancers	Right Atrium	heart
8	chr8:52425600-52426000	Enhancers	Spleen	Spleen
9	chr8:52425800-52426000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:52425800-52426000	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:52425800-52426000	Flanking Active TSS	Left Ventricle	heart
12	chr8:52426000-52427600	Weak transcription	Right Atrium	heart
13	chr8:52426000-52427600	Weak transcription	Spleen	Spleen
14	chr8:52426000-52429200	Weak transcription	Right Ventricle	heart
15	chr8:52426000-52433000	Weak transcription	Left Ventricle	heart
16	chr8:52427400-52428000	Enhancers	Fetal Kidney	kidney
17	chr8:52427600-52427800	Enhancers	Gastric	stomach
18	chr8:52427600-52428000	Enhancers	Spleen	Spleen
19	chr8:52427600-52428200	Enhancers	Right Atrium	heart
20	chr8:52428000-52437800	Weak transcription	Fetal Kidney	kidney
21	chr8:52428200-52432400	Weak transcription	Right Atrium	heart
22	chr8:52428800-52429400	Enhancers	Brain Germinal Matrix	brain
23	chr8:52429400-52430400	Weak transcription	Brain Germinal Matrix	brain
24	chr8:52430400-52430600	Enhancers	Brain Germinal Matrix	brain
25	chr8:52430400-52431400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:52430600-52437600	Weak transcription	Brain Germinal Matrix	brain
27	chr8:52430800-52431400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr8:52430800-52431800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr8:52431000-52431200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr8:52431000-52431200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr8:52431000-52431400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:52431200-52431400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr8:52431200-52431400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:52431200-52432200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:52431200-52433600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:52431400-52432600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:52431400-52432800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:52431400-52433000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr8:52431400-52433000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:52431800-52432400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr8:52432200-52433600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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