Variant report

Variant	esv3383905
Chromosome Location	chr5:97589090-97618236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:97593547..97596828-chr5:97596937..97599291,3	K562	blood:
2	chr5:97593547..97596828-chr5:97596937..97599291,3	K562	blood:
3	chr5:97615949..97618290-chr5:97620124..97621957,2	MCF-7	breast:

Extended variants
information (count: 1053 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1053 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113402964	chr5:97589116-97589117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142338310	chr5:97589147-97589148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549878536	chr5:97589286-97589287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372757603	chr5:97589338-97589339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112527540	chr5:97589340-97589341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150953570	chr5:97589344-97589345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572489693	chr5:97589356-97589357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189226856	chr5:97589409-97589410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114073537	chr5:97589412-97589413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192391271	chr5:97589440-97589441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533876739	chr5:97589481-97589482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35648909	chr5:97589496-97589497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs398084317	chr5:97589505-97589506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373068193	chr5:97589506-97589507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558869437	chr5:97589633-97589634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570481375	chr5:97589650-97589651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377024548	chr5:97589653-97589654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143419235	chr5:97589731-97589732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183778371	chr5:97589828-97589829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75722010	chr5:97589872-97589873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186672177	chr5:97589926-97589927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200752065	chr5:97589949-97589950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572581378	chr5:97589998-97589999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148371763	chr5:97590006-97590007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142600201	chr5:97590085-97590086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564404659	chr5:97590119-97590120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547875121	chr5:97590135-97590136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543366628	chr5:97590144-97590145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567949713	chr5:97590149-97590150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73155388	chr5:97590153-97590154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs13170032	chr5:97590173-97590174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7727459	chr5:97590178-97590179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs80167114	chr5:97590185-97590186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79469259	chr5:97590195-97590196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570716533	chr5:97590246-97590247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537841381	chr5:97590264-97590265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556236794	chr5:97590328-97590329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191827165	chr5:97590365-97590366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535228354	chr5:97590521-97590522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185019495	chr5:97590548-97590549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7705608	chr5:97590598-97590599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs62366845	chr5:97590692-97590693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs138372131	chr5:97590697-97590698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576376496	chr5:97590698-97590699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141645388	chr5:97590707-97590708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114879374	chr5:97590715-97590716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573955706	chr5:97590747-97590748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146210244	chr5:97590762-97590763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62366846	chr5:97590766-97590767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189483409	chr5:97590780-97590781	Weak transcription	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
Breast cancer	21611746	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97582200-97602400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97596600-97597000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:97597400-97597800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:97597400-97600000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:97598000-97598200	Enhancers	Brain Germinal Matrix	brain
6	chr5:97598000-97599000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:97598200-97599000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:97598200-97599200	Weak transcription	Brain Germinal Matrix	brain
9	chr5:97598800-97599400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:97599200-97599800	Enhancers	Brain Germinal Matrix	brain
11	chr5:97599400-97600800	Enhancers	HUVEC	blood vessel
12	chr5:97602400-97602800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:97602800-97603000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:97603000-97603200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:97603200-97634200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:97603600-97604600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:97608200-97609000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:97608400-97609000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:97608600-97609200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:97608800-97609400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:97612000-97613200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:97612200-97612600	Enhancers	Stomach Mucosa	stomach
23	chr5:97612200-97612800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:97612200-97612800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:97612200-97613000	Enhancers	NHDF-Ad	bronchial
26	chr5:97612400-97613000	Enhancers	Osteobl	bone
27	chr5:97613000-97622800	Weak transcription	NHDF-Ad	bronchial
28	chr5:97616800-97617000	Enhancers	Brain Germinal Matrix	brain
29	chr5:97617200-97618400	Weak transcription	Brain Germinal Matrix	brain

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