Variant report

Variant	esv3418272
Chromosome Location	chr8:62453156-62455091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540723875	chr8:62453176-62453177	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs61052776	chr8:62453215-62453216	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs72657089	chr8:62453223-62453224	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10094667	chr8:62453229-62453230	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189309826	chr8:62453230-62453231	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs527975671	chr8:62453236-62453237	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs530824324	chr8:62453239-62453240	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs552639847	chr8:62453264-62453265	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs570839270	chr8:62453269-62453270	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs532835128	chr8:62453273-62453274	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs149866583	chr8:62453276-62453277	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs373503959	chr8:62453349-62453350	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs78215314	chr8:62453378-62453379	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs536400705	chr8:62453400-62453401	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs554590372	chr8:62453416-62453417	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs58595833	chr8:62453417-62453418	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181006392	chr8:62453421-62453422	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs576418556	chr8:62453478-62453479	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs554609666	chr8:62453504-62453505	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs199630253	chr8:62453508-62453509	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs555743228	chr8:62453522-62453523	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs185886738	chr8:62453537-62453538	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs559353673	chr8:62453546-62453547	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs189914167	chr8:62453585-62453586	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs541152791	chr8:62453617-62453618	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs542373829	chr8:62453646-62453647	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs563716731	chr8:62453677-62453678	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs150146910	chr8:62453764-62453765	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs76945096	chr8:62453773-62453774	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs78586331	chr8:62453775-62453776	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs144957446	chr8:62453779-62453780	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs577447265	chr8:62453780-62453781	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs570899739	chr8:62453798-62453799	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs369782653	chr8:62453800-62453801	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs10098174	chr8:62453806-62453807	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs143358885	chr8:62453817-62453818	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs568515252	chr8:62453839-62453840	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs536075555	chr8:62453849-62453850	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs528869746	chr8:62453854-62453855	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs569745513	chr8:62453859-62453860	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs536986473	chr8:62453866-62453867	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs548660176	chr8:62453879-62453880	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs373980308	chr8:62453883-62453884	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs370332637	chr8:62453904-62453905	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs374106525	chr8:62453921-62453922	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs4394391	chr8:62454024-62454025	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs551516113	chr8:62454101-62454102	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs377559542	chr8:62454163-62454164	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs147923749	chr8:62454244-62454245	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181181982	chr8:62454281-62454282	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:62412000-62455600	Strong transcription	A549	lung
4	chr8:62414200-62455400	Weak transcription	Fetal Lung	lung
5	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
6	chr8:62417000-62454000	Weak transcription	NHEK	skin
7	chr8:62421200-62456400	Weak transcription	Psoas Muscle	Psoas
8	chr8:62422600-62455400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:62423200-62456200	Weak transcription	Stomach Mucosa	stomach
10	chr8:62427000-62468600	Weak transcription	Fetal Thymus	thymus
11	chr8:62428000-62458600	Weak transcription	Fetal Intestine Small	intestine
12	chr8:62428000-62463800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:62429600-62463000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:62430000-62464400	Weak transcription	Brain Anterior Caudate	brain
15	chr8:62430000-62467200	Weak transcription	Right Ventricle	heart
16	chr8:62430400-62487400	Weak transcription	Colonic Mucosa	Colon
17	chr8:62430600-62454200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:62430600-62479600	Weak transcription	Brain Substantia Nigra	brain
19	chr8:62431600-62455600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:62431600-62455600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:62431600-62456000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:62432400-62455000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:62434200-62463400	Weak transcription	Spleen	Spleen
24	chr8:62434400-62455600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:62438400-62458200	Weak transcription	HepG2	liver
26	chr8:62439400-62455000	Weak transcription	Fetal Intestine Large	intestine
27	chr8:62440600-62462800	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:62440800-62455200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:62440800-62457400	Weak transcription	NHLF	lung
30	chr8:62440800-62457600	Weak transcription	Esophagus	oesophagus
31	chr8:62440800-62463000	Weak transcription	Pancreas	Pancrea
32	chr8:62441800-62455200	Weak transcription	HSMMtube	muscle
33	chr8:62442600-62493200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:62443400-62455000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:62444400-62455200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:62445600-62455400	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:62446000-62461600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:62447200-62453200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:62447400-62453600	Strong transcription	Osteobl	bone
40	chr8:62447600-62456000	Weak transcription	Hela-S3	cervix
41	chr8:62447800-62457600	Weak transcription	Left Ventricle	heart
42	chr8:62448000-62454800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr8:62448400-62456000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:62448800-62455400	Strong transcription	Adipose Nuclei	Adipose
45	chr8:62449400-62453800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr8:62449400-62461600	Strong transcription	NH-A	brain
47	chr8:62449800-62454200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:62449800-62463000	Weak transcription	Lung	lung
49	chr8:62449800-62463200	Weak transcription	HUVEC	blood vessel
50	chr8:62449800-62503600	Weak transcription	Rectal Smooth Muscle	rectum

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