Variant report

Variant	esv3378115
Chromosome Location	chr5:80590421-80592969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr5:80592935-80592944	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:80592700-80593062	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr5:80591222-80591228	MCF10A-Er-Src	breast:	n/a	n/a
4	ZNF274	chr5:80591588-80592008	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:80562714..80564322-chr5:80589942..80591670,2	K562	blood:
2	chr5:80590488..80592952-chr5:80595910..80597883,2	MCF-7	breast:
3	chr5:80592174..80595605-chr5:80595635..80599173,5	MCF-7	breast:

Variant related genes	Relation type
ZCCHC9	TF binding region
ENSG00000131732	chromatin interactions
ENSG00000247572	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564373397	chr5:80590436-80590437	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140676935	chr5:80590480-80590481	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549973573	chr5:80590485-80590486	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569510384	chr5:80590512-80590513	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs185880039	chr5:80590532-80590533	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs533888192	chr5:80590565-80590566	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs191132041	chr5:80590578-80590579	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs565339680	chr5:80590598-80590599	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs558025373	chr5:80590610-80590611	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs182270500	chr5:80590666-80590667	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs143145150	chr5:80590691-80590692	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs577494978	chr5:80590775-80590776	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs62365035	chr5:80590921-80590922	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs543384753	chr5:80590949-80590950	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs113758355	chr5:80590990-80590991	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs13362314	chr5:80591030-80591031	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs186121897	chr5:80591154-80591155	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542348388	chr5:80591247-80591248	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs190923216	chr5:80591248-80591249	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs144721007	chr5:80591273-80591274	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs77998604	chr5:80591274-80591275	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs76377870	chr5:80591281-80591282	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs533302448	chr5:80591321-80591322	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs199750131	chr5:80591355-80591356	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs200811006	chr5:80591356-80591357	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs182719934	chr5:80591366-80591367	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs34833489	chr5:80591372-80591373	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs35461320	chr5:80591395-80591396	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs563150028	chr5:80591427-80591428	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs188849690	chr5:80591483-80591484	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs368151589	chr5:80591492-80591493	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs148467627	chr5:80591521-80591522	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs536377489	chr5:80591535-80591536	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs4703832	chr5:80591555-80591556	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs201407921	chr5:80591559-80591560	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs76547942	chr5:80591564-80591565	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs534404537	chr5:80591601-80591602	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs200169918	chr5:80591602-80591603	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs372049529	chr5:80591605-80591606	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs377674617	chr5:80591609-80591610	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs78137788	chr5:80591610-80591611	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs398064956	chr5:80591612-80591613	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs534209089	chr5:80591624-80591625	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs551403295	chr5:80591629-80591630	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs191150617	chr5:80591637-80591638	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs183407245	chr5:80591677-80591678	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs4703833	chr5:80591701-80591702	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs111217536	chr5:80591730-80591731	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs552946062	chr5:80591743-80591744	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs10663968	chr5:80591758-80591759	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80572000-80595200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:80578800-80595200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:80581600-80595800	Weak transcription	Small Intestine	intestine
4	chr5:80584200-80595000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:80584400-80595000	Weak transcription	NH-A	brain
6	chr5:80586400-80595000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:80586400-80595000	Weak transcription	Hela-S3	cervix
8	chr5:80586800-80595200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:80587000-80595000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:80587000-80595000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:80587600-80591400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:80588000-80595000	Weak transcription	Osteobl	bone
13	chr5:80588000-80595200	Weak transcription	A549	lung
14	chr5:80588200-80594600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr5:80588200-80594600	Weak transcription	Ovary	ovary
16	chr5:80588200-80595000	Weak transcription	NHLF	lung
17	chr5:80588200-80595200	Weak transcription	Right Atrium	heart
18	chr5:80588200-80596400	Weak transcription	Right Ventricle	heart
19	chr5:80588400-80593000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:80588400-80593800	Weak transcription	HSMMtube	muscle
21	chr5:80588400-80595000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:80588400-80595200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:80588400-80595200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr5:80588400-80595200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:80588400-80595200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:80588400-80595800	Weak transcription	Left Ventricle	heart
27	chr5:80588400-80596400	Weak transcription	Psoas Muscle	Psoas
28	chr5:80588600-80593200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:80588600-80593200	Weak transcription	Liver	Liver
30	chr5:80588600-80596200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:80588800-80590600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:80588800-80590800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:80589000-80591000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:80589200-80593200	Weak transcription	Fetal Heart	heart
35	chr5:80589400-80595200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:80589600-80590800	Weak transcription	Fetal Kidney	kidney
37	chr5:80589600-80595000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr5:80589600-80595000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:80589600-80595000	Weak transcription	Brain Substantia Nigra	brain
40	chr5:80589600-80595200	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:80589600-80595800	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:80589800-80595000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:80589800-80595200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr5:80589800-80595200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr5:80589800-80596000	Weak transcription	Fetal Intestine Large	intestine
46	chr5:80590000-80596000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:80590200-80590600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:80590200-80590800	Weak transcription	K562	blood
49	chr5:80590200-80595000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:80590200-80595200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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