Variant report

Variant	esv3364859
Chromosome Location	chr8:63352398-63356896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63349340..63351905-chr8:63356599..63358880,2	K562	blood:
2	chr8:63355392..63357928-chr8:63359748..63362199,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537763263	chr8:63352453-63352454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578062031	chr8:63352468-63352469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150478930	chr8:63352488-63352489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564201760	chr8:63352495-63352496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs16928919	chr8:63352500-63352501	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs147750031	chr8:63352537-63352538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561882638	chr8:63352553-63352554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142510820	chr8:63352583-63352584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199664176	chr8:63352607-63352608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550258271	chr8:63352609-63352610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115944754	chr8:63352641-63352642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371925089	chr8:63352645-63352646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116189782	chr8:63352670-63352671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552082131	chr8:63352684-63352685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs16928922	chr8:63352713-63352714	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs534462881	chr8:63352748-63352749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146777008	chr8:63352792-63352793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190002005	chr8:63352879-63352880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538379558	chr8:63352936-63352937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139097723	chr8:63352952-63352953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs578090964	chr8:63352957-63352958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149374185	chr8:63352963-63352964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554100862	chr8:63352964-63352965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192694826	chr8:63352989-63352990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs59643136	chr8:63352990-63352991	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573492241	chr8:63353053-63353054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143734024	chr8:63353146-63353147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148080472	chr8:63353156-63353157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10957223	chr8:63353181-63353182	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs544686368	chr8:63353184-63353185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184633906	chr8:63353215-63353216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370441553	chr8:63353229-63353230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549640353	chr8:63353230-63353231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567892226	chr8:63353240-63353241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574493044	chr8:63353261-63353262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35092616	chr8:63353262-63353263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531919041	chr8:63353263-63353264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543375263	chr8:63353290-63353291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77295305	chr8:63353291-63353292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570847014	chr8:63353307-63353308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559367328	chr8:63353316-63353317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377274680	chr8:63353318-63353319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528132313	chr8:63353354-63353355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189004638	chr8:63353360-63353361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553883521	chr8:63353396-63353397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141857791	chr8:63353434-63353435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146262216	chr8:63353435-63353436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368719424	chr8:63353450-63353451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571330788	chr8:63353494-63353495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181483769	chr8:63353522-63353523	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
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63351400-63353600	Enhancers	Fetal Brain Male	brain
2	chr8:63351600-63352400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:63351600-63353200	Enhancers	Fetal Brain Female	brain
4	chr8:63352200-63352400	Enhancers	Fetal Kidney	kidney
5	chr8:63352200-63353000	Enhancers	Brain Substantia Nigra	brain
6	chr8:63352400-63352800	Weak transcription	Fetal Kidney	kidney
7	chr8:63352400-63353000	Enhancers	Brain Germinal Matrix	brain
8	chr8:63352800-63353600	Enhancers	Fetal Kidney	kidney

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