Variant report

Variant	esv1804561
Chromosome Location	chr8:65246972-65257491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 402 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537075948	chr8:65247009-65247010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186954865	chr8:65247026-65247027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190510344	chr8:65247044-65247045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545237304	chr8:65247092-65247093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182415823	chr8:65247144-65247145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187091614	chr8:65247167-65247168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115168318	chr8:65247168-65247169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561281041	chr8:65247329-65247330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576008309	chr8:65247351-65247352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35864490	chr8:65247362-65247363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543821223	chr8:65247369-65247370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10091651	chr8:65247500-65247501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532650632	chr8:65247514-65247515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547231871	chr8:65247571-65247572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35421686	chr8:65247607-65247608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559497978	chr8:65247613-65247614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529958566	chr8:65247636-65247637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544721918	chr8:65247684-65247685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548486150	chr8:65247696-65247697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569992792	chr8:65247759-65247760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191805971	chr8:65247779-65247780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552165927	chr8:65247828-65247829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147294851	chr8:65247866-65247867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534718565	chr8:65247876-65247877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552839472	chr8:65247908-65247909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572290421	chr8:65247945-65247946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554664203	chr8:65247999-65248000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536477707	chr8:65248095-65248096	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140948240	chr8:65248109-65248110	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143104949	chr8:65248129-65248130	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182152319	chr8:65248144-65248145	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187752823	chr8:65248194-65248195	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376482074	chr8:65248217-65248218	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7824601	chr8:65248253-65248254	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs532483549	chr8:65248269-65248270	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541509015	chr8:65248274-65248275	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559918091	chr8:65248275-65248276	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs193252098	chr8:65248315-65248316	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529890185	chr8:65248340-65248341	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545669791	chr8:65248367-65248368	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548424311	chr8:65248378-65248379	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563538390	chr8:65248379-65248380	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371589822	chr8:65248387-65248388	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530834047	chr8:65248402-65248403	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551838713	chr8:65248407-65248408	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78682780	chr8:65248408-65248409	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534361193	chr8:65248418-65248419	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546653486	chr8:65248424-65248425	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147493232	chr8:65248438-65248439	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536415464	chr8:65248466-65248467	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65236400-65248000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:65248000-65249600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:65248200-65248800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:65248200-65249000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:65249600-65260000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:65251400-65253800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:65253800-65254600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:65254200-65255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:65254400-65255600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:65254600-65255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:65254600-65257200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:65255200-65255400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:65257200-65257800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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