Variant report

Variant	esv20833
Chromosome Location	chr8:51555987-51558277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530700756	chr8:51556020-51556021	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs13262678	chr8:51556065-51556066	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs13252069	chr8:51556084-51556085	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs201006772	chr8:51556103-51556104	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs13252090	chr8:51556107-51556108	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569687582	chr8:51556131-51556132	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs139003695	chr8:51556139-51556140	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs373542635	chr8:51556142-51556143	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs13255182	chr8:51556143-51556144	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145035941	chr8:51556148-51556149	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs13255431	chr8:51556169-51556170	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs373274348	chr8:51556208-51556209	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs189470732	chr8:51556250-51556251	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs13254671	chr8:51556262-51556263	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537321550	chr8:51556284-51556285	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs555657733	chr8:51556305-51556306	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs567479925	chr8:51556324-51556325	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs144867960	chr8:51556361-51556362	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs368635340	chr8:51556368-51556369	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs553200714	chr8:51556376-51556377	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs149071570	chr8:51556392-51556393	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs192544044	chr8:51556409-51556410	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs184501859	chr8:51556413-51556414	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs142109294	chr8:51556486-51556487	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs537509156	chr8:51556570-51556571	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs6990703	chr8:51556585-51556586	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561173020	chr8:51556586-51556587	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs77740873	chr8:51556636-51556637	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs376644903	chr8:51556647-51556648	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs558459629	chr8:51556667-51556668	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs565127630	chr8:51556668-51556669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs568021943	chr8:51556674-51556675	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs199911933	chr8:51556678-51556679	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs578244024	chr8:51556679-51556680	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs151203891	chr8:51556738-51556739	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs189771098	chr8:51556753-51556754	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs140328115	chr8:51556760-51556761	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs57894733	chr8:51556773-51556774	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549218357	chr8:51556825-51556826	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs117214622	chr8:51556890-51556891	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs145419649	chr8:51556921-51556922	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs114143028	chr8:51556961-51556962	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs138140643	chr8:51556971-51556972	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs141067517	chr8:51557003-51557004	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs574096887	chr8:51557007-51557008	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs557032824	chr8:51557092-51557093	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs150205872	chr8:51557121-51557122	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs543060996	chr8:51557132-51557133	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs542645184	chr8:51557155-51557156	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs554649632	chr8:51557158-51557159	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51552400-51556000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:51554800-51556800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:51555200-51556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:51555200-51556600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:51555400-51556200	Weak transcription	Fetal Brain Female	brain
6	chr8:51555600-51556200	Enhancers	NH-A	brain
7	chr8:51555600-51556400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:51555600-51556600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:51555600-51556600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:51555600-51556600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:51555600-51556600	Flanking Active TSS	HUVEC	blood vessel
12	chr8:51555800-51556000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:51555800-51556000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:51555800-51556400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:51555800-51556600	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr8:51555800-51556800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:51556000-51556400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr8:51556000-51556400	Enhancers	Fetal Lung	lung
19	chr8:51556000-51556800	Enhancers	Brain Cingulate Gyrus	brain
20	chr8:51556200-51556600	Enhancers	Fetal Brain Female	brain
21	chr8:51556400-51556800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:51556400-51556800	Enhancers	Fetal Muscle Leg	muscle
23	chr8:51556400-51556800	Enhancers	Spleen	Spleen
24	chr8:51556400-51557200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:51556400-51559000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr8:51556600-51556800	Enhancers	Fetal Brain Male	brain
27	chr8:51556600-51557000	Enhancers	Brain Germinal Matrix	brain
28	chr8:51556600-51558400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:51556600-51558800	Enhancers	HUVEC	blood vessel
30	chr8:51556800-51558200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:51557000-51558000	Weak transcription	Brain Germinal Matrix	brain
32	chr8:51557200-51557400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:51557400-51558000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:51558000-51558800	Enhancers	Brain Germinal Matrix	brain
35	chr8:51558000-51559000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:51558200-51559200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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