Variant report

Variant	esv3330268
Chromosome Location	chr5:80972245-81001669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:80996121..80997838-chr5:81001876..81003774,2	K562	blood:
2	chr5:80991735..80994087-chr5:80998688..81001325,2	K562	blood:
3	chr5:80991735..80993822-chr5:80998688..81000196,2	K562	blood:
4	chr5:80991735..80994087-chr5:80998688..81001325,2	K562	blood:
5	chr5:80987236..80988906-chr5:80991479..80993705,2	K562	blood:
6	chr5:80965614..80968004-chr5:80970828..80973570,3	K562	blood:
7	chr5:80971757..80974379-chr5:80975193..80977880,3	K562	blood:
8	chr5:80998159..81001011-chr5:81003180..81006000,3	K562	blood:
9	chr5:80970290..80973257-chr5:80975148..80979422,4	K562	blood:
10	chr5:80983475..80985751-chr5:80991739..80993703,2	MCF-7	breast:
11	chr5:80987236..80988906-chr5:80991479..80993705,2	K562	blood:
12	chr5:80983475..80985751-chr5:80991739..80993703,2	MCF-7	breast:
13	chr5:80991735..80993822-chr5:80998688..81000196,2	K562	blood:
14	chr5:80971757..80974379-chr5:80975193..80977880,3	K562	blood:
15	chr5:80997712..81001011-chr5:81003942..81006000,3	K562	blood:
16	chr5:80970290..80973257-chr5:80975148..80979422,4	K562	blood:

No data

Extended variants
information (count: 995 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:995 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576878989	chr5:80972254-80972255	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13360536	chr5:80972255-80972256	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376084183	chr5:80972272-80972273	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189000693	chr5:80972288-80972289	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112948224	chr5:80972305-80972306	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191618420	chr5:80972312-80972313	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141103798	chr5:80972323-80972324	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563143825	chr5:80972340-80972341	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552427775	chr5:80972356-80972357	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114263709	chr5:80972395-80972396	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529145524	chr5:80972413-80972414	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184093816	chr5:80972435-80972436	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369501885	chr5:80972475-80972476	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528437597	chr5:80972482-80972483	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144630158	chr5:80972511-80972512	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148194483	chr5:80972514-80972515	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535543064	chr5:80972549-80972550	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140052101	chr5:80972585-80972586	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569410144	chr5:80972592-80972593	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539665743	chr5:80972593-80972594	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551180566	chr5:80972594-80972595	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571557990	chr5:80972597-80972598	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189442144	chr5:80972609-80972610	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372710493	chr5:80972691-80972692	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573588161	chr5:80972694-80972695	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540981633	chr5:80972703-80972704	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531010708	chr5:80972844-80972845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181032980	chr5:80972859-80972860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574526191	chr5:80972913-80972914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150327944	chr5:80972932-80972933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186116574	chr5:80972947-80972948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115165143	chr5:80972963-80972964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375081916	chr5:80972983-80972984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112819084	chr5:80973047-80973048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs682481	chr5:80973152-80973153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564367403	chr5:80973206-80973207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528365049	chr5:80973210-80973211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375797821	chr5:80973215-80973216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6885312	chr5:80973257-80973258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs137969023	chr5:80973263-80973264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190192613	chr5:80973270-80973271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73137634	chr5:80973276-80973277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551024144	chr5:80973321-80973322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548903496	chr5:80973330-80973331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539982715	chr5:80973349-80973350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181981012	chr5:80973352-80973353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374617176	chr5:80973546-80973547	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs542299376	chr5:80973609-80973610	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567117504	chr5:80973673-80973674	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185949855	chr5:80973687-80973688	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Tetralogy of Fallot	22912587	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80921200-80983000	Weak transcription	Aorta	Aorta
2	chr5:80945600-80985400	Weak transcription	Fetal Kidney	kidney
3	chr5:80946200-80972800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:80950200-80975600	Weak transcription	Thymus	Thymus
5	chr5:80963400-80983200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:80963400-80983400	Weak transcription	Left Ventricle	heart
7	chr5:80963400-80983800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:80967400-80980000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:80967400-80991400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:80967800-80973600	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:80969400-80972600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:80969800-80973400	Weak transcription	Fetal Heart	heart
13	chr5:80970600-80972600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:80971000-80972600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:80971000-80972600	Strong transcription	Fetal Thymus	thymus
16	chr5:80971000-80972800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr5:80971200-80995800	Weak transcription	HSMMtube	muscle
18	chr5:80971800-80972400	Enhancers	Psoas Muscle	Psoas
19	chr5:80972000-80973800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:80972200-80972600	Enhancers	Ovary	ovary
21	chr5:80972200-80972600	Genic enhancers	Dnd41	blood
22	chr5:80972200-80974400	Weak transcription	Primary T cells from cord blood	blood
23	chr5:80972400-80972600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:80972400-80973200	Weak transcription	Psoas Muscle	Psoas
25	chr5:80972600-80973400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:80972600-80973400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr5:80972600-80973600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:80972600-80973800	Enhancers	Dnd41	blood
29	chr5:80972600-80977000	Weak transcription	Fetal Thymus	thymus
30	chr5:80972800-80973600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr5:80972800-80973800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:80973200-80973400	Enhancers	Psoas Muscle	Psoas
33	chr5:80973400-80973600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:80973400-80973800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr5:80973400-80974000	Enhancers	Fetal Heart	heart
36	chr5:80973400-80990000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:80973600-80973800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:80973600-80973800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:80973600-80974000	Enhancers	Colon Smooth Muscle	Colon
40	chr5:80973600-80976000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr5:80973800-80974000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr5:80973800-80978800	Weak transcription	Dnd41	blood
43	chr5:80973800-80980400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:80974000-80975600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:80974200-80974600	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr5:80974800-80984200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:80975400-80976000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr5:80975600-80976000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr5:80975600-80976000	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr5:80975600-80976000	Enhancers	Thymus	Thymus

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