Variant report

Variant	esv3398124
Chromosome Location	chr8:112902576-112909574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 247 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:247 , 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	rs540021026	chr8:112902583-112902584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12235049	chr8:112902585-112902586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146466061	chr8:112902610-112902611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189081753	chr8:112902641-112902642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs320503	chr8:112902645-112902646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs534656526	chr8:112902652-112902653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530926111	chr8:112902660-112902661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551023703	chr8:112902671-112902672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574312189	chr8:112902691-112902692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192978214	chr8:112902695-112902696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543705302	chr8:112902707-112902708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139200360	chr8:112902727-112902728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73704947	chr8:112902778-112902779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563573112	chr8:112902835-112902836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547339686	chr8:112902903-112902904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77435266	chr8:112902944-112902945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140915401	chr8:112902954-112902955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143220678	chr8:112902958-112902959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552239696	chr8:112902994-112902995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554582399	chr8:112903048-112903049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373856733	chr8:112903058-112903059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537424501	chr8:112903071-112903072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554175941	chr8:112903115-112903116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574108286	chr8:112903127-112903128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184831507	chr8:112903129-112903130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs36056354	chr8:112903154-112903155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533805507	chr8:112903159-112903160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565408331	chr8:112903193-112903194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527810635	chr8:112903221-112903222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569841315	chr8:112903222-112903223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536798526	chr8:112903225-112903226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112481798	chr8:112903242-112903243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113201027	chr8:112903243-112903244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140371942	chr8:112903244-112903245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149853194	chr8:112903245-112903246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397737103	chr8:112903259-112903260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567657208	chr8:112903284-112903285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79921360	chr8:112903285-112903286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545728998	chr8:112903294-112903295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565360516	chr8:112903306-112903307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371641348	chr8:112903309-112903310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376693278	chr8:112903315-112903316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181555715	chr8:112903334-112903335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574791255	chr8:112903342-112903343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185694457	chr8:112903352-112903353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547231465	chr8:112903359-112903360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529993477	chr8:112903363-112903364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560662454	chr8:112903394-112903395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550495193	chr8:112903395-112903396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552523387	chr8:112903399-112903400	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112901600-112906600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:112901800-112907200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:112905800-112907800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:112906200-112907000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:112906600-112907600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:112906600-112907600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:112906600-112907600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:112907200-112909200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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