Variant report

Variant	esv3480488
Chromosome Location	chr8:63961087-63965898
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 187 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10094071	chr8:63961105-63961106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536059909	chr8:63961131-63961132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34169986	chr8:63961147-63961148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs564245163	chr8:63961266-63961267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180814086	chr8:63961310-63961311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546524864	chr8:63961311-63961312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564605008	chr8:63961320-63961321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374621718	chr8:63961343-63961344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139720578	chr8:63961382-63961383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34904396	chr8:63961447-63961448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75691327	chr8:63961449-63961450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561465964	chr8:63961452-63961453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78105862	chr8:63961471-63961472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528907280	chr8:63961495-63961496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550368331	chr8:63961580-63961581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368402115	chr8:63961657-63961658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562743364	chr8:63961659-63961660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532979083	chr8:63961679-63961680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191423460	chr8:63961735-63961736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182797999	chr8:63961751-63961752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188721537	chr8:63961812-63961813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535040121	chr8:63961824-63961825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55875425	chr8:63961882-63961883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550939897	chr8:63961892-63961893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190524069	chr8:63961905-63961906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183500215	chr8:63961944-63961945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75250789	chr8:63961948-63961949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560908041	chr8:63961955-63961956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72658399	chr8:63961963-63961964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs145098195	chr8:63962036-63962037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374279889	chr8:63962042-63962043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4449783	chr8:63962093-63962094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372184112	chr8:63962111-63962112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144433264	chr8:63962114-63962115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573428744	chr8:63962115-63962116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147831025	chr8:63962229-63962230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187827824	chr8:63962236-63962237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560312928	chr8:63962251-63962252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141221648	chr8:63962270-63962271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543950039	chr8:63962305-63962306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562420527	chr8:63962306-63962307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191610230	chr8:63962316-63962317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563384318	chr8:63962342-63962343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72658400	chr8:63962373-63962374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs560400057	chr8:63962458-63962459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184492710	chr8:63962478-63962479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551977650	chr8:63962497-63962498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114639076	chr8:63962537-63962538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116445694	chr8:63962620-63962621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187463898	chr8:63962676-63962677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63960400-63967200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:63960400-63972400	Weak transcription	Liver	Liver
3	chr8:63963400-63964000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr8:63963400-63964000	Enhancers	HepG2	liver
5	chr8:63964000-63965200	Weak transcription	HepG2	liver
6	chr8:63964000-63967200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:63965200-63965600	Flanking Active TSS	HepG2	liver
8	chr8:63965600-63966400	Enhancers	HepG2	liver

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