Variant report

Variant	esv3347240
Chromosome Location	chr8:114439876-114443074
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	chr8:114441726..114443315-chr8:114445051..114447307,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2927871	chr8:114439884-114439885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368755473	chr8:114439949-114439950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142054175	chr8:114439989-114439990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554649454	chr8:114439990-114439991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2942850	chr8:114440017-114440018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs556207463	chr8:114440020-114440021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553256397	chr8:114440069-114440070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567272997	chr8:114440110-114440111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573405673	chr8:114440113-114440114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190352730	chr8:114440140-114440141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs16884651	chr8:114440178-114440179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs530959429	chr8:114440232-114440233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2927870	chr8:114440236-114440237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs182555074	chr8:114440243-114440244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529905425	chr8:114440270-114440271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61706132	chr8:114440288-114440289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560572740	chr8:114440303-114440304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566502738	chr8:114440327-114440328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532348464	chr8:114440372-114440373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151151251	chr8:114440403-114440404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188034201	chr8:114440411-114440412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537964131	chr8:114440415-114440416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191825160	chr8:114440417-114440418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184064142	chr8:114440421-114440422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72207176	chr8:114440434-114440435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199515395	chr8:114440435-114440436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11998360	chr8:114440439-114440440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs536515713	chr8:114440471-114440472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs67265782	chr8:114440479-114440480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145980653	chr8:114440482-114440483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56081001	chr8:114440483-114440484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs33921458	chr8:114440486-114440487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75565071	chr8:114440490-114440491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553631220	chr8:114440491-114440492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11995017	chr8:114440514-114440515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs545573438	chr8:114440544-114440545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558754464	chr8:114440574-114440575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371412821	chr8:114440581-114440582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386728911	chr8:114440730-114440731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1513528	chr8:114440732-114440733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs55861700	chr8:114440733-114440734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187285186	chr8:114440749-114440750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557720643	chr8:114440767-114440768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192169351	chr8:114440787-114440788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560389673	chr8:114440832-114440833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532347772	chr8:114440843-114440844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550020681	chr8:114440848-114440849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs16884657	chr8:114440872-114440873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs562705788	chr8:114440876-114440877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184463703	chr8:114440897-114440898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
Glioblastoma multiforme	21080181	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
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114436200-114442200	Weak transcription	Brain Anterior Caudate	brain
2	chr8:114442200-114442400	Enhancers	Brain Germinal Matrix	brain
3	chr8:114442200-114442600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:114442200-114442600	Bivalent Enhancer	Fetal Lung	lung
5	chr8:114442200-114443600	Enhancers	Brain Anterior Caudate	brain
6	chr8:114442400-114442800	Active TSS	Brain Cingulate Gyrus	brain
7	chr8:114442400-114443200	Weak transcription	Brain Germinal Matrix	brain
8	chr8:114442600-114442800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr8:114442600-114443800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:114442800-114443000	Enhancers	Brain Angular Gyrus	brain
11	chr8:114442800-114443200	Enhancers	Brain Substantia Nigra	brain
12	chr8:114442800-114443800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:114442800-114444200	Weak transcription	Brain Cingulate Gyrus	brain

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