Variant report

Variant	esv20619
Chromosome Location	chr8:111891496-111908496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:111905363..111907255-chr8:112045592..112048412,2	K562	blood:
2	chr8:111907063..111908580-chr8:111914627..111917279,2	K562	blood:
3	chr8:111906809..111908563-chr8:111915252..111917279,2	K562	blood:
4	chr1:225202258..225204234-chr8:111898982..111900583,2	MCF-7	breast:
5	chr7:142211038..142211658-chr8:111907767..111908287,2	MCF-7	breast:
6	chr8:111905656..111907856-chr8:111909688..111913737,4	K562	blood:

Extended variants
information (count: 421 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:421 , 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	rs530283775	chr8:111892816-111892817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140591319	chr8:111892839-111892840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546912921	chr8:111892890-111892891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566098633	chr8:111892899-111892900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531967440	chr8:111892927-111892928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187280340	chr8:111892934-111892935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547493833	chr8:111892946-111892947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191411230	chr8:111892959-111892960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537581136	chr8:111893000-111893001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554705865	chr8:111893039-111893040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369485220	chr8:111893099-111893100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60631997	chr8:111893100-111893101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541969022	chr8:111893102-111893103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367561639	chr8:111893103-111893104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367566672	chr8:111893113-111893114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61527902	chr8:111893129-111893130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536232512	chr8:111893160-111893161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557542594	chr8:111893274-111893275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35830164	chr8:111893275-111893276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397893139	chr8:111893288-111893289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568263388	chr8:111893312-111893313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376479252	chr8:111893389-111893390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554123553	chr8:111893460-111893461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577244739	chr8:111893499-111893500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117906780	chr8:111893572-111893573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539001636	chr8:111893586-111893587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558729238	chr8:111893606-111893607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183612381	chr8:111893616-111893617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544384098	chr8:111893627-111893628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111653639	chr8:111893644-111893645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62520664	chr8:111893647-111893648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184606465	chr8:111893683-111893684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540460890	chr8:111893726-111893727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560394134	chr8:111893736-111893737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115378281	chr8:111893754-111893755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552143793	chr8:111893794-111893795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550403339	chr8:111893800-111893801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562350909	chr8:111893813-111893814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186700439	chr8:111893815-111893816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369726463	chr8:111893826-111893827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532913307	chr8:111893841-111893842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548000364	chr8:111893856-111893857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568224935	chr8:111893870-111893871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533958386	chr8:111893892-111893893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191410619	chr8:111893916-111893917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183543021	chr8:111893983-111893984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145656432	chr8:111894002-111894003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11988928	chr8:111894007-111894008	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs138203482	chr8:111894008-111894009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140409096	chr8:111894021-111894022	Enhancers	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111892800-111893000	Enhancers	Fetal Intestine Large	intestine
2	chr8:111893000-111893800	Weak transcription	Fetal Intestine Large	intestine
3	chr8:111893800-111894000	Enhancers	K562	blood
4	chr8:111893800-111894400	Enhancers	Fetal Intestine Large	intestine
5	chr8:111894200-111895400	Weak transcription	K562	blood
6	chr8:111895400-111897400	Enhancers	K562	blood
7	chr8:111901000-111901200	Enhancers	Fetal Muscle Trunk	muscle
8	chr8:111901400-111902400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:111902200-111905800	Enhancers	Fetal Muscle Leg	muscle
10	chr8:111902400-111902800	Enhancers	Fetal Muscle Trunk	muscle
11	chr8:111902600-111902800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:111902600-111902800	ZNF genes & repeats	Brain Angular Gyrus	brain
13	chr8:111902600-111902800	Enhancers	Pancreas	Pancrea
14	chr8:111902800-111903800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:111902800-111905200	Weak transcription	Brain Angular Gyrus	brain
16	chr8:111903800-111904000	Enhancers	Fetal Muscle Trunk	muscle
17	chr8:111904000-111904400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:111904400-111905600	Enhancers	Fetal Muscle Trunk	muscle
19	chr8:111904600-111906600	Enhancers	Adipose Nuclei	Adipose
20	chr8:111904800-111905000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:111904800-111905600	Enhancers	HSMMtube	muscle
22	chr8:111905200-111905400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:111905200-111905400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr8:111905200-111905600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:111905200-111905600	Enhancers	Brain Angular Gyrus	brain
26	chr8:111905200-111905600	Enhancers	Brain Hippocampus Middle	brain
27	chr8:111905200-111905800	Enhancers	HSMM	muscle
28	chr8:111905200-111906800	Active TSS	Brain Cingulate Gyrus	brain
29	chr8:111905400-111906000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:111905400-111906000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr8:111905400-111906600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:111905400-111907000	Active TSS	Brain Anterior Caudate	brain
33	chr8:111905400-111907000	Active TSS	Brain Substantia Nigra	brain
34	chr8:111905400-111907200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr8:111905600-111905800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:111905600-111905800	Flanking Active TSS	Fetal Muscle Trunk	muscle
37	chr8:111905600-111906000	Enhancers	Fetal Lung	lung
38	chr8:111905600-111906000	Enhancers	NHLF	lung
39	chr8:111905600-111906400	Enhancers	Fetal Stomach	stomach
40	chr8:111905600-111906400	Flanking Active TSS	HSMMtube	muscle
41	chr8:111905600-111906600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr8:111905600-111907000	Active TSS	Brain Angular Gyrus	brain
43	chr8:111905600-111907000	Active TSS	Brain Hippocampus Middle	brain
44	chr8:111905600-111907000	Enhancers	Ovary	ovary
45	chr8:111905600-111907200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:111905800-111906000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:111905800-111906000	Enhancers	Fetal Muscle Trunk	muscle
48	chr8:111905800-111906200	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr8:111905800-111906400	Enhancers	NH-A	brain
50	chr8:111905800-111906600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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