Variant report

Variant	esv1807392
Chromosome Location	chr8:113074557-113088154
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4876276	chr8:113074557-113074558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34755550	chr8:113074558-113074559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192225992	chr8:113074619-113074620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10098184	chr8:113074667-113074668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184251429	chr8:113074685-113074686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548837956	chr8:113074721-113074722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529712765	chr8:113074765-113074766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546241940	chr8:113074773-113074774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560467314	chr8:113074779-113074780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7813171	chr8:113074791-113074792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141859764	chr8:113075942-113075943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530180521	chr8:113075956-113075957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532421197	chr8:113077615-113077616	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs375960549	chr8:113077640-113077641	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs115478268	chr8:113077642-113077643	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs187255264	chr8:113077699-113077700	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs375207726	chr8:113077717-113077718	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs146936932	chr8:113077819-113077820	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs369336999	chr8:113077820-113077821	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs371681991	chr8:113077881-113077882	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs550848972	chr8:113077891-113077892	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs548626738	chr8:113077965-113077966	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs190095482	chr8:113084411-113084412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79375567	chr8:113084518-113084519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28441203	chr8:113084558-113084559	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs35667073	chr8:113084561-113084562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183605279	chr8:113084650-113084651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375789955	chr8:113084654-113084655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541716217	chr8:113084699-113084700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187002623	chr8:113084708-113084709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571892014	chr8:113084743-113084744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540355818	chr8:113084778-113084779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540793172	chr8:113086005-113086006	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs567011869	chr8:113086042-113086043	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs187751179	chr8:113086068-113086069	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs13260037	chr8:113086092-113086093	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs142217044	chr8:113086095-113086096	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs145810630	chr8:113086145-113086146	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs34773793	chr8:113086259-113086260	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs562789674	chr8:113086269-113086270	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs73335206	chr8:113086274-113086275	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs562936448	chr8:113086326-113086327	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs531715612	chr8:113086338-113086339	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs201351626	chr8:113086345-113086346	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs575537062	chr8:113086346-113086347	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs544564230	chr8:113086367-113086368	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs138401319	chr8:113086414-113086415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558054198	chr8:113086478-113086479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562337457	chr8:113086486-113086487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371592527	chr8:113086504-113086505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113074200-113074800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:113075800-113076000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:113077600-113078000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:113077600-113078000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:113084400-113084800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:113086000-113086200	Enhancers	Gastric	stomach
7	chr8:113086000-113086400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:113086000-113086400	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr8:113086400-113095200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:113086600-113087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:113087400-113087600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:113087600-113087800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:113087800-113088000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:113088000-113089600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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