Variant report

Variant	esv3344263
Chromosome Location	chr8:66811573-66813646
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	chr8:66813325..66814889-chr8:66819143..66821210,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560445992	chr8:66811594-66811595	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs527485191	chr8:66811648-66811649	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs34580043	chr8:66811660-66811661	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs549197116	chr8:66811668-66811669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs117135079	chr8:66811684-66811685	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569450506	chr8:66811688-66811689	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs530283860	chr8:66811805-66811806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537530423	chr8:66811834-66811835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535531343	chr8:66811890-66811891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549777235	chr8:66811941-66811942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548703068	chr8:66812043-66812044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538214387	chr8:66812061-66812062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558042144	chr8:66812087-66812088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147276971	chr8:66812111-66812112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534241898	chr8:66812122-66812123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534161049	chr8:66812212-66812213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140853415	chr8:66812241-66812242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375436489	chr8:66812253-66812254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577593473	chr8:66812350-66812351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574105461	chr8:66812381-66812382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187275424	chr8:66812382-66812383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113372881	chr8:66812426-66812427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192733783	chr8:66812438-66812439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367575877	chr8:66812470-66812471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143088013	chr8:66812481-66812482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556785778	chr8:66812485-66812486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144705249	chr8:66812495-66812496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113057267	chr8:66812506-66812507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115042448	chr8:66812510-66812511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553325208	chr8:66812518-66812519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199753066	chr8:66812519-66812520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7815078	chr8:66812530-66812531	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7833489	chr8:66812534-66812535	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs541044320	chr8:66812541-66812542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199616552	chr8:66812542-66812543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564073815	chr8:66812546-66812547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9801952	chr8:66812558-66812559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139319482	chr8:66812565-66812566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199884881	chr8:66812578-66812579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144114417	chr8:66812582-66812583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200066669	chr8:66812591-66812592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531506387	chr8:66812594-66812595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184715549	chr8:66812610-66812611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115494446	chr8:66812615-66812616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116366060	chr8:66812631-66812632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189563194	chr8:66812632-66812633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546988671	chr8:66812768-66812769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566856163	chr8:66812801-66812802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534196922	chr8:66812820-66812821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192798854	chr8:66812885-66812886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	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
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66810600-66813400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:66810800-66811600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr8:66810800-66811600	Enhancers	Stomach Mucosa	stomach
4	chr8:66810800-66813200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:66810800-66813400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:66811000-66811600	Enhancers	Duodenum Mucosa	Duodenum
7	chr8:66811000-66813200	Enhancers	HMEC	breast
8	chr8:66811200-66811600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr8:66811200-66811600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:66811200-66811600	Enhancers	Esophagus	oesophagus
11	chr8:66811200-66811600	Enhancers	Fetal Intestine Small	intestine
12	chr8:66811200-66811800	Enhancers	Small Intestine	intestine
13	chr8:66811400-66811800	Flanking Active TSS	NHEK	skin
14	chr8:66811600-66813800	Weak transcription	Fetal Intestine Small	intestine
15	chr8:66811800-66813600	Enhancers	NHEK	skin
16	chr8:66812800-66813800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:66813600-66814000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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