Variant report

Variant	esv3515684
Chromosome Location	chr8:63214098-63226396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577723266	chr8:63214135-63214136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74511855	chr8:63214147-63214148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532241098	chr8:63214179-63214180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377447960	chr8:63214238-63214239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140688197	chr8:63214262-63214263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564892527	chr8:63214295-63214296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371344202	chr8:63214360-63214361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145794167	chr8:63214383-63214384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529194832	chr8:63214439-63214440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550807123	chr8:63214451-63214452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11995175	chr8:63214453-63214454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181395084	chr8:63214461-63214462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139316612	chr8:63214464-63214465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141873852	chr8:63214468-63214469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533813298	chr8:63214486-63214487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554940162	chr8:63214510-63214511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556008244	chr8:63214522-63214523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs386726120	chr8:63214535-63214536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538107567	chr8:63214558-63214559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185634180	chr8:63214580-63214581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577786385	chr8:63214604-63214605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147077785	chr8:63214623-63214624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574278412	chr8:63214696-63214697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554272441	chr8:63214706-63214707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572446839	chr8:63214736-63214737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138273185	chr8:63214740-63214741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561228060	chr8:63214765-63214766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567629927	chr8:63214807-63214808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116374155	chr8:63214812-63214813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376243383	chr8:63214832-63214833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189170792	chr8:63214848-63214849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57369766	chr8:63214884-63214885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs56108587	chr8:63214917-63214918	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149626523	chr8:63214926-63214927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560240847	chr8:63214931-63214932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527384374	chr8:63214935-63214936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548577714	chr8:63215031-63215032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557850523	chr8:63215137-63215138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566873790	chr8:63215150-63215151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576054949	chr8:63215154-63215155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543438911	chr8:63215175-63215176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559302252	chr8:63215225-63215226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561707633	chr8:63215229-63215230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538167342	chr8:63215311-63215312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550024814	chr8:63215314-63215315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182055079	chr8:63215319-63215320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113922714	chr8:63215332-63215333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192342223	chr8:63215393-63215394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73256771	chr8:63215406-63215407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144282052	chr8:63215411-63215412	Enhancers	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
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63209600-63214400	Weak transcription	Fetal Brain Female	brain
2	chr8:63209600-63214600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:63212400-63216200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:63214000-63214600	Enhancers	Fetal Brain Male	brain
5	chr8:63214000-63215000	Enhancers	Brain Germinal Matrix	brain
6	chr8:63214400-63216200	Enhancers	Fetal Brain Female	brain
7	chr8:63214600-63215800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:63215000-63216000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:63215200-63215800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:63215200-63216000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:63215200-63216000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:63215400-63215800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:63215400-63216000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:63215600-63216000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr8:63216000-63217200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:63217400-63217600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:63219200-63219600	Enhancers	HSMM	muscle
18	chr8:63225200-63225600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:63225200-63227000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:63225600-63234400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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