Variant report

Variant	esv3417547
Chromosome Location	chr8:67162648-67164946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546539163	chr8:67162653-67162654	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs556857898	chr8:67162733-67162734	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs35632247	chr8:67162767-67162768	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs377419298	chr8:67162768-67162769	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs59602598	chr8:67162786-67162787	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs12335081	chr8:67162849-67162850	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs184024213	chr8:67162870-67162871	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs373081795	chr8:67162894-67162895	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs563211307	chr8:67162950-67162951	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs530511592	chr8:67162977-67162978	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs186871456	chr8:67163023-67163024	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs550644583	chr8:67163037-67163038	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs147881820	chr8:67163067-67163068	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs115334565	chr8:67163113-67163114	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs546740842	chr8:67163203-67163204	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs72650583	chr8:67163272-67163273	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs369672973	chr8:67163274-67163275	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs200901830	chr8:67163323-67163324	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs13282495	chr8:67163373-67163374	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs555232916	chr8:67163385-67163386	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs191232287	chr8:67163389-67163390	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs185713681	chr8:67163453-67163454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201338495	chr8:67163470-67163471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376545163	chr8:67163705-67163706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190535817	chr8:67163726-67163727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578018608	chr8:67163814-67163815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2469255	chr8:67163816-67163817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7836590	chr8:67163818-67163819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141504323	chr8:67163820-67163821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575333981	chr8:67163822-67163823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563175081	chr8:67163876-67163877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532050418	chr8:67163968-67163969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117613037	chr8:67163982-67163983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150168313	chr8:67164037-67164038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138643296	chr8:67164061-67164062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75790481	chr8:67164062-67164063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544182197	chr8:67164095-67164096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563982483	chr8:67164127-67164128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182396146	chr8:67164215-67164216	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs529073673	chr8:67164216-67164217	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs2446444	chr8:67164217-67164218	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs115393716	chr8:67164234-67164235	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs372492913	chr8:67164244-67164245	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs557700206	chr8:67164277-67164278	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs571527725	chr8:67164284-67164285	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs534231866	chr8:67164285-67164286	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs188885330	chr8:67164296-67164297	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs181254226	chr8:67164320-67164321	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs574126861	chr8:67164350-67164351	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs376054485	chr8:67164398-67164399	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67161200-67163000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:67162200-67163200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr8:67162200-67163400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr8:67162400-67162800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
5	chr8:67162600-67163000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:67162600-67164200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:67162600-67164600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:67162800-67164000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:67163200-67164000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:67163400-67164000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:67163800-67164400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:67164000-67164200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:67164000-67164600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:67164000-67164800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:67164000-67165200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:67164000-67166200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:67164200-67164400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:67164200-67164600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:67164200-67165400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr8:67164200-67165400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:67164400-67165200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr8:67164600-67165000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:67164600-67165600	Enhancers	HepG2	liver
24	chr8:67164800-67165200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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