Variant report

Variant	esv3444219
Chromosome Location	chr8:108049825-108069307
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	chr8:108046046..108048588-chr8:108049288..108050905,2	K562	blood:

Extended variants
information (count: 166 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:166 , 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	rs549609589	chr8:108058209-108058210	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs376801159	chr8:108058228-108058229	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs528632377	chr8:108058237-108058238	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546767682	chr8:108058240-108058241	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs3019909	chr8:108058251-108058252	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs3019910	chr8:108058286-108058287	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557122758	chr8:108058327-108058328	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs148594595	chr8:108058334-108058335	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs77252376	chr8:108058342-108058343	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs138625622	chr8:108058366-108058367	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs199977326	chr8:108058376-108058377	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs35721261	chr8:108058378-108058379	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs71562129	chr8:108058379-108058380	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs398096027	chr8:108058380-108058381	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs199652683	chr8:108058381-108058382	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs554814364	chr8:108058388-108058389	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs573096836	chr8:108058433-108058434	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs3019911	chr8:108058461-108058462	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs200732912	chr8:108058464-108058465	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs577054988	chr8:108058471-108058472	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs562799503	chr8:108058503-108058504	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs2920097	chr8:108058541-108058542	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs562350776	chr8:108058542-108058543	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs529655415	chr8:108058543-108058544	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs141519529	chr8:108058544-108058545	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs2584362	chr8:108058552-108058553	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs115160370	chr8:108058564-108058565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs2615085	chr8:108058574-108058575	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190856127	chr8:108058606-108058607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571503757	chr8:108058615-108058616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532471878	chr8:108058632-108058633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2615086	chr8:108058665-108058666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs6988709	chr8:108058685-108058686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs554645180	chr8:108058827-108058828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78982214	chr8:108058894-108058895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60909099	chr8:108058914-108058915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs3019912	chr8:108059027-108059028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs2584365	chr8:108059036-108059037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549355795	chr8:108059111-108059112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2346906	chr8:108059149-108059150	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556204267	chr8:108059164-108059165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74594978	chr8:108059242-108059243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531941304	chr8:108059243-108059244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117594576	chr8:108059251-108059252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386728606	chr8:108059255-108059256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116837081	chr8:108059257-108059258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60857656	chr8:108059280-108059281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532551087	chr8:108059295-108059296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183672602	chr8:108059342-108059343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3019913	chr8:108059368-108059369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	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
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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108058200-108058600	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr8:108058600-108062000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:108060800-108061400	Enhancers	Fetal Intestine Large	intestine
4	chr8:108060800-108061800	Enhancers	Fetal Intestine Small	intestine
5	chr8:108062000-108062200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:108069200-108069600	Enhancers	Fetal Intestine Small	intestine

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