Variant report

Variant	esv3450746
Chromosome Location	chr8:85532265-85538309
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:85533470..85536280-chr8:85567297..85568905,2	K562	blood:
2	chr8:85538196..85539101-chr8:85944207..85944819,2	MCF-7	breast:
3	chr8:85534205..85536062-chr8:85543701..85545825,2	MCF-7	breast:
4	chr8:85538123..85539046-chr8:85966580..85967573,4	MCF-7	breast:
5	chr8:85532892..85534737-chr8:85962083..85963895,2	K562	blood:
6	chr8:85538135..85538922-chr8:86202235..86203001,3	MCF-7	breast:
7	chr8:85538159..85539035-chr8:85943804..85944923,5	MCF-7	breast:

Extended variants
information (count: 95 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544061850	chr8:85533203-85533204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560764841	chr8:85533204-85533205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527253674	chr8:85533284-85533285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372386392	chr8:85533285-85533286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529821974	chr8:85533313-85533314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145224304	chr8:85533376-85533377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183964482	chr8:85533391-85533392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571618848	chr8:85533396-85533397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186806024	chr8:85533403-85533404	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs371033025	chr8:85533417-85533418	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs547255483	chr8:85533426-85533427	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs28695582	chr8:85533458-85533459	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536400582	chr8:85533459-85533460	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs554457607	chr8:85533488-85533489	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs78191906	chr8:85533492-85533493	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs192384822	chr8:85533515-85533516	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs567793631	chr8:85533522-85533523	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs185748225	chr8:85533523-85533524	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs538681682	chr8:85533530-85533531	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs558138417	chr8:85533549-85533550	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs574860297	chr8:85533552-85533553	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs544123273	chr8:85533555-85533556	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs143312082	chr8:85533556-85533557	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs574608160	chr8:85533559-85533560	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs112775786	chr8:85533572-85533573	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs141565979	chr8:85533573-85533574	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs28446816	chr8:85533583-85533584	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs545474679	chr8:85533602-85533603	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs368635941	chr8:85533604-85533605	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs565293719	chr8:85533606-85533607	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs530896375	chr8:85533653-85533654	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs189875403	chr8:85533658-85533659	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs567855480	chr8:85533659-85533660	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs530368072	chr8:85533664-85533665	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs546883959	chr8:85533677-85533678	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs567013439	chr8:85533686-85533687	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs538363522	chr8:85533687-85533688	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs552965664	chr8:85533693-85533694	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs370853365	chr8:85533720-85533721	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs568374899	chr8:85533721-85533722	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs537430145	chr8:85533747-85533748	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs112175251	chr8:85533751-85533752	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs574641291	chr8:85533790-85533791	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs386727366	chr8:85533793-85533794	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs553691407	chr8:85533795-85533796	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs182086375	chr8:85533798-85533799	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs143580851	chr8:85533799-85533800	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs545736132	chr8:85533804-85533805	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs147494356	chr8:85533820-85533821	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs565365148	chr8:85533821-85533822	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
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
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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85533200-85533400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:85533400-85533600	Enhancers	Pancreas	Pancrea
3	chr8:85533400-85533800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr8:85533400-85533800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:85533400-85533800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr8:85533400-85533800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr8:85533400-85533800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr8:85533400-85533800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr8:85533400-85533800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:85533400-85533800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:85533400-85534000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:85536800-85537200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:85537200-85537600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:85537600-85538200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:85537600-85538400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr8:85537800-85538600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:85538000-85538200	Enhancers	Primary hematopoietic stem cells	blood
18	chr8:85538000-85538800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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