Variant report

Variant	esv3469599
Chromosome Location	chr5:98089932-98098452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:57919045..57922016-chr5:98088755..98091248,2	MCF-7	breast:
2	chr5:98097815..98101035-chr5:98108800..98111033,3	MCF-7	breast:
3	chr5:98088672..98090405-chr5:98108104..98109838,2	MCF-7	breast:
4	chr20:49349783..49350401-chr5:98097256..98097858,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246763	chromatin interactions
ENSG00000174136	chromatin interactions

Extended variants
information (count: 291 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:291 , 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	rs7707936	chr5:98089954-98089955	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114795819	chr5:98090047-98090048	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs189187766	chr5:98090102-98090103	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs139122989	chr5:98090105-98090106	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs537020510	chr5:98090138-98090139	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545596111	chr5:98090162-98090163	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs181550810	chr5:98090223-98090224	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557616199	chr5:98090243-98090244	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs575948116	chr5:98090288-98090289	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs543225142	chr5:98090325-98090326	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557028322	chr5:98090356-98090357	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs529115146	chr5:98090365-98090366	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs557089053	chr5:98090366-98090367	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs541117129	chr5:98090442-98090443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559517858	chr5:98090463-98090464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374023265	chr5:98090509-98090510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375817589	chr5:98090557-98090558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545902401	chr5:98090559-98090560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17166350	chr5:98090590-98090591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs573818343	chr5:98090613-98090614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76751135	chr5:98090652-98090653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376894002	chr5:98090686-98090687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570334129	chr5:98090697-98090698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531237902	chr5:98090701-98090702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549267943	chr5:98090818-98090819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370066340	chr5:98090863-98090864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543073562	chr5:98090890-98090891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559523490	chr5:98090903-98090904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374036340	chr5:98090963-98090964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116514764	chr5:98090972-98090973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17166353	chr5:98090982-98090983	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs553031058	chr5:98091002-98091003	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545013890	chr5:98091016-98091017	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80021085	chr5:98091029-98091030	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538613934	chr5:98091060-98091061	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556958370	chr5:98091115-98091116	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115969097	chr5:98091123-98091124	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111437931	chr5:98091136-98091137	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7712638	chr5:98091143-98091144	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541261870	chr5:98091222-98091223	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559454271	chr5:98091249-98091250	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143980479	chr5:98091253-98091254	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544972241	chr5:98091262-98091263	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563280394	chr5:98091275-98091276	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186570890	chr5:98091289-98091290	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191034710	chr5:98091353-98091354	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561453985	chr5:98091404-98091405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376137606	chr5:98091406-98091407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562731158	chr5:98091453-98091454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546806575	chr5:98091472-98091473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98076800-98090600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:98085400-98091000	Weak transcription	HSMM	muscle
3	chr5:98088000-98090000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:98088000-98090200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:98088400-98090200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:98088600-98090000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:98088800-98090400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:98089000-98090200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:98089200-98090200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:98089600-98090200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:98089600-98094200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:98089600-98104000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:98089800-98090000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:98089800-98090000	Enhancers	Osteobl	bone
15	chr5:98089800-98090200	Enhancers	HSMMtube	muscle
16	chr5:98089800-98091200	Enhancers	NHDF-Ad	bronchial
17	chr5:98090000-98090800	Weak transcription	Osteobl	bone
18	chr5:98090000-98091000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:98090000-98091800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:98090200-98090600	Weak transcription	HSMMtube	muscle
21	chr5:98090200-98091000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:98090200-98099000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:98090400-98091000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:98090600-98091600	Enhancers	HSMMtube	muscle
25	chr5:98090600-98092000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:98090800-98091200	Enhancers	NHLF	lung
27	chr5:98090800-98091800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:98090800-98091800	Enhancers	Osteobl	bone
29	chr5:98091000-98091200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:98091000-98091200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:98091000-98091400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:98091000-98091800	Enhancers	HSMM	muscle
33	chr5:98091000-98092000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:98091200-98092800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:98091400-98092400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:98092400-98093600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:98093600-98094200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:98094200-98094600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:98094600-98095000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:98095000-98095200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:98097200-98097400	Enhancers	HSMMtube	muscle
42	chr5:98097400-98103200	Weak transcription	HSMMtube	muscle
43	chr5:98098200-98101000	Enhancers	NHDF-Ad	bronchial
44	chr5:98098400-98100400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:98098400-98100600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr5:98098400-98100600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:98098400-98100600	Enhancers	Muscle Satellite Cultured Cells	--

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