Variant report

Variant	esv3469592
Chromosome Location	chr5:97933039-97939910
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	chr5:97927782..97929943-chr5:97931809..97933564,2	K562	blood:
2	chr5:97927404..97929282-chr5:97932064..97934664,2	K562	blood:

Extended variants
information (count: 270 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112886836	chr5:97933118-97933119	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578206107	chr5:97933137-97933138	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564753635	chr5:97933171-97933172	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545697486	chr5:97933185-97933186	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61574472	chr5:97933188-97933189	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572830881	chr5:97933190-97933191	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145840664	chr5:97933204-97933205	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543183654	chr5:97933328-97933329	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561444790	chr5:97933329-97933330	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528531700	chr5:97933330-97933331	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547592500	chr5:97933349-97933350	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182602256	chr5:97933431-97933432	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187106347	chr5:97933468-97933469	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138424880	chr5:97933477-97933478	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375927119	chr5:97933513-97933514	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369024559	chr5:97933668-97933669	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs251535	chr5:97933671-97933672	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs558248501	chr5:97933733-97933734	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149606708	chr5:97933766-97933767	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567374903	chr5:97933771-97933772	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79996769	chr5:97933850-97933851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs553562229	chr5:97933856-97933857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs467627	chr5:97933888-97933889	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs251534	chr5:97933925-97933926	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575967414	chr5:97933931-97933932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs117398794	chr5:97933957-97933958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs561099758	chr5:97933959-97933960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs573303613	chr5:97934012-97934013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs540356283	chr5:97934014-97934015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs465312	chr5:97934026-97934027	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs191613735	chr5:97934046-97934047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200109988	chr5:97934092-97934093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs536287708	chr5:97934122-97934123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs251533	chr5:97934125-97934126	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185449599	chr5:97934126-97934127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs35054473	chr5:97934138-97934139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs189804669	chr5:97934144-97934145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs530686257	chr5:97934172-97934173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs144502764	chr5:97934181-97934182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs567134092	chr5:97934193-97934194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs193263403	chr5:97934216-97934217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs535323443	chr5:97934323-97934324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs76797249	chr5:97934327-97934328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs62369100	chr5:97934400-97934401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs185423763	chr5:97934454-97934455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs188376516	chr5:97934457-97934458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs370779257	chr5:97934468-97934469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs148424640	chr5:97934483-97934484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs199788443	chr5:97934528-97934529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs11354212	chr5:97934541-97934542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97932400-97933800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97933800-97939600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:97937800-97938600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:97938000-97938400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:97938400-97940000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:97938600-97940000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:97939600-97940000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:97939800-97940800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:97939800-97941000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:97939800-97941200	Enhancers	NHDF-Ad	bronchial
11	chr5:97939800-97942000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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