Variant report

Variant	esv3414368
Chromosome Location	chr8:111985676-111987574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:111977359..111979519-chr8:111986099..111987901,2	K562	blood:
2	chr8:111986722..111988349-chr8:112001568..112003641,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73702291	chr8:111985740-111985741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572894242	chr8:111985777-111985778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7463637	chr8:111985792-111985793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs558316216	chr8:111985793-111985794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34537463	chr8:111985802-111985803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575124919	chr8:111985816-111985817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146137139	chr8:111985902-111985903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544930248	chr8:111985961-111985962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560815325	chr8:111985967-111985968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374959104	chr8:111985979-111985980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574402282	chr8:111985986-111985987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77486650	chr8:111986046-111986047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193006679	chr8:111986069-111986070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184566758	chr8:111986171-111986172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552541994	chr8:111986214-111986215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367619194	chr8:111986226-111986227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551617100	chr8:111986253-111986254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565455469	chr8:111986264-111986265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371268886	chr8:111986270-111986271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551208238	chr8:111986285-111986286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558167650	chr8:111986291-111986292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112556097	chr8:111986304-111986305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567914829	chr8:111986428-111986429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564521691	chr8:111986439-111986440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540949177	chr8:111986448-111986449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114509587	chr8:111986450-111986451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13264874	chr8:111986454-111986455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189032180	chr8:111986456-111986457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180824043	chr8:111986457-111986458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34427055	chr8:111986490-111986491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375900426	chr8:111986500-111986501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184087286	chr8:111986507-111986508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538708248	chr8:111986519-111986520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139247298	chr8:111986541-111986542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs118181284	chr8:111986580-111986581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537608917	chr8:111986592-111986593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554345537	chr8:111986644-111986645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574672205	chr8:111986654-111986655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188522638	chr8:111986674-111986675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559682112	chr8:111986695-111986696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115060260	chr8:111986700-111986701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200988526	chr8:111986727-111986728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs398009382	chr8:111986730-111986731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545405094	chr8:111986734-111986735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565340901	chr8:111986735-111986736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144016139	chr8:111986759-111986760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544818180	chr8:111986786-111986787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374794697	chr8:111986803-111986804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561507821	chr8:111986864-111986865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368261341	chr8:111986872-111986873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Glioblastoma multiforme	21080181	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
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
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111978200-111989400	Weak transcription	Brain Substantia Nigra	brain

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