Variant report

Variant	esv3344694
Chromosome Location	chr8:52737249-52739247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538594698	chr8:52737362-52737363	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs181287735	chr8:52737364-52737365	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs151324224	chr8:52737425-52737426	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs537653803	chr8:52737429-52737430	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs556039118	chr8:52737454-52737455	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs184709593	chr8:52737480-52737481	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs140638912	chr8:52737495-52737496	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs559978008	chr8:52737536-52737537	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs200145019	chr8:52737622-52737623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577971471	chr8:52737747-52737748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545357000	chr8:52737749-52737750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563633358	chr8:52737931-52737932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374475403	chr8:52737974-52737975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200685416	chr8:52737993-52737994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530871932	chr8:52738021-52738022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549056578	chr8:52738110-52738111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560776983	chr8:52738111-52738112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201444222	chr8:52738116-52738117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528255512	chr8:52738122-52738123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546593904	chr8:52738123-52738124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557381025	chr8:52738146-52738147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62506085	chr8:52738185-52738186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538259993	chr8:52738223-52738224	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs550511618	chr8:52738255-52738256	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs557166326	chr8:52738256-52738257	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs376067766	chr8:52738279-52738280	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs72639731	chr8:52738284-52738285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs147082946	chr8:52738336-52738337	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs188498520	chr8:52738341-52738342	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs13265029	chr8:52738380-52738381	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs574315570	chr8:52738437-52738438	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535183414	chr8:52738440-52738441	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138492968	chr8:52738444-52738445	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368531200	chr8:52738478-52738479	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181689152	chr8:52738532-52738533	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572985522	chr8:52738566-52738567	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545126195	chr8:52738621-52738622	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185773824	chr8:52738622-52738623	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563383471	chr8:52738691-52738692	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575212719	chr8:52738727-52738728	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542747903	chr8:52738734-52738735	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190961983	chr8:52738745-52738746	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562517182	chr8:52738746-52738747	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141194292	chr8:52738798-52738799	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201694846	chr8:52738860-52738861	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13272467	chr8:52738872-52738873	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs139604668	chr8:52738931-52738932	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565045217	chr8:52738937-52738938	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532481159	chr8:52738938-52738939	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550600547	chr8:52738955-52738956	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52717600-52741800	Weak transcription	Aorta	Aorta
2	chr8:52719400-52741800	Weak transcription	Esophagus	oesophagus
3	chr8:52721000-52741000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:52722000-52771400	Weak transcription	Gastric	stomach
5	chr8:52722200-52752000	Weak transcription	Pancreas	Pancrea
6	chr8:52722400-52741800	Weak transcription	Right Ventricle	heart
7	chr8:52722800-52741000	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:52722800-52741800	Weak transcription	HSMMtube	muscle
9	chr8:52723000-52741600	Weak transcription	Fetal Heart	heart
10	chr8:52726000-52741800	Weak transcription	Brain Substantia Nigra	brain
11	chr8:52727600-52756800	Weak transcription	Brain Angular Gyrus	brain
12	chr8:52728200-52759200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:52729800-52741600	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:52731200-52763400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:52731200-52771000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:52731400-52753400	Weak transcription	NHDF-Ad	bronchial
17	chr8:52731800-52741800	Weak transcription	Psoas Muscle	Psoas
18	chr8:52731800-52745600	Weak transcription	NHEK	skin
19	chr8:52732200-52743600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:52732200-52746000	Weak transcription	Fetal Brain Male	brain
21	chr8:52732200-52746400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr8:52732800-52753600	Weak transcription	Osteobl	bone
23	chr8:52733200-52741000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:52733200-52742600	Weak transcription	HepG2	liver
25	chr8:52733200-52758800	Weak transcription	Small Intestine	intestine
26	chr8:52733200-52763600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:52733200-52783800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:52733400-52739800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:52733400-52741800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:52733400-52757200	Weak transcription	Colonic Mucosa	Colon
31	chr8:52733600-52745200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr8:52733800-52742000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:52733800-52776400	Weak transcription	GM12878-XiMat	blood
34	chr8:52734000-52742600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:52734200-52761600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:52734400-52745200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:52735400-52741800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:52735400-52741800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:52735400-52741800	Weak transcription	Lung	lung
40	chr8:52735400-52744600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:52735400-52753400	Weak transcription	HUVEC	blood vessel
42	chr8:52735600-52740000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:52735600-52741200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:52735600-52741400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:52735600-52741800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:52735600-52741800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:52735600-52753800	Weak transcription	HSMM	muscle
48	chr8:52735600-52763600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:52735600-52773400	Weak transcription	Brain Germinal Matrix	brain
50	chr8:52735800-52738200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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