Variant report

Variant	esv1949409
Chromosome Location	chr8:62477994-62478446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555415733	chr8:62478077-62478078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528912181	chr8:62478110-62478111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574031734	chr8:62478136-62478137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117884920	chr8:62478141-62478142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542741485	chr8:62478143-62478144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556868031	chr8:62478183-62478184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148152509	chr8:62478185-62478186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374765833	chr8:62478211-62478212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541570901	chr8:62478215-62478216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59707346	chr8:62478217-62478218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7462502	chr8:62478219-62478220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7462486	chr8:62478247-62478248	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs116760576	chr8:62478255-62478256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150149642	chr8:62478352-62478353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375309440	chr8:62478372-62478373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559532058	chr8:62478377-62478378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72659004	chr8:62478417-62478418	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561848905	chr8:62478435-62478436	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

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	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
4	chr8:62430400-62487400	Weak transcription	Colonic Mucosa	Colon
5	chr8:62430600-62479600	Weak transcription	Brain Substantia Nigra	brain
6	chr8:62442600-62493200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:62449800-62503600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:62453400-62480200	Weak transcription	Primary T cells from cord blood	blood
9	chr8:62453400-62480800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:62456000-62482800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:62456000-62482800	Strong transcription	Adipose Nuclei	Adipose
12	chr8:62456000-62491600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:62456600-62492800	Weak transcription	Small Intestine	intestine
14	chr8:62456600-62503800	Weak transcription	Stomach Mucosa	stomach
15	chr8:62456800-62479400	Weak transcription	Psoas Muscle	Psoas
16	chr8:62456800-62482200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:62457000-62479600	Weak transcription	NHEK	skin
18	chr8:62457000-62496600	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:62457000-62503000	Weak transcription	HSMMtube	muscle
20	chr8:62457800-62488400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:62458000-62497000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:62458200-62482000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:62458800-62491000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:62459000-62479400	Weak transcription	Aorta	Aorta
25	chr8:62460200-62495800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:62463800-62479200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:62463800-62481200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:62464000-62480400	Weak transcription	Lung	lung
29	chr8:62464000-62492400	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:62464000-62492600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:62464000-62494000	Weak transcription	HUVEC	blood vessel
32	chr8:62464200-62479000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr8:62464400-62492600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:62464600-62478200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:62465000-62479600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr8:62465000-62488400	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:62465000-62488600	Weak transcription	Brain Anterior Caudate	brain
38	chr8:62466600-62490200	Weak transcription	K562	blood
39	chr8:62466800-62479000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:62466800-62508600	Weak transcription	Pancreas	Pancrea
41	chr8:62467200-62487400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr8:62467600-62492600	Weak transcription	Spleen	Spleen
43	chr8:62468600-62479000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:62468600-62479200	Weak transcription	Ovary	ovary
45	chr8:62468600-62479400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
47	chr8:62469000-62479200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:62469000-62479200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:62469800-62478200	Weak transcription	Left Ventricle	heart
50	chr8:62470000-62484800	Weak transcription	Gastric	stomach

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