Variant report

Variant	esv3366967
Chromosome Location	chr8:87299802-87300046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59545351	chr8:87299810-87299811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs58390265	chr8:87299816-87299817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376094113	chr8:87299826-87299827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370141372	chr8:87299830-87299831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10636758	chr8:87299831-87299832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144304356	chr8:87299838-87299839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs59019781	chr8:87299841-87299842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560019751	chr8:87299842-87299843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576699702	chr8:87299848-87299849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564748125	chr8:87299850-87299851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144220162	chr8:87299852-87299853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562569332	chr8:87299856-87299857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577076646	chr8:87299861-87299862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61511819	chr8:87299867-87299868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182675549	chr8:87299869-87299870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185400402	chr8:87299870-87299871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544512460	chr8:87299871-87299872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561781677	chr8:87299873-87299874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs58165132	chr8:87299877-87299878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148718793	chr8:87299878-87299879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368777092	chr8:87299884-87299885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10675615	chr8:87299888-87299889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71770797	chr8:87299889-87299890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547386167	chr8:87299897-87299898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs56081294	chr8:87299909-87299910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs58364091	chr8:87299915-87299916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139303163	chr8:87299918-87299919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71502653	chr8:87299919-87299920	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs530225404	chr8:87299924-87299925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548524870	chr8:87299928-87299929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7842828	chr8:87299930-87299931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182648712	chr8:87299932-87299933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187730025	chr8:87299936-87299937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376804478	chr8:87299944-87299945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7818144	chr8:87299945-87299946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7838559	chr8:87299951-87299952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191986231	chr8:87299952-87299953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201686063	chr8:87299957-87299958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs58571591	chr8:87299960-87299961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10589705	chr8:87299963-87299964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139490696	chr8:87299965-87299966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7831780	chr8:87299966-87299967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62509373	chr8:87299970-87299971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371598149	chr8:87299974-87299975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs202145390	chr8:87299976-87299977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200427081	chr8:87299977-87299978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201103575	chr8:87299978-87299979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374156696	chr8:87299979-87299980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56236447	chr8:87299983-87299984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61578632	chr8:87299987-87299988	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Schizophrenia	19805367	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87299200-87300600	Enhancers	Liver	Liver

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