Variant report

Variant	rs565339680
Chromosome Location	chr5:80590598-80590599
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80590488..80592952-chr5:80595910..80597883,2	MCF-7	breast:
2	chr5:80562714..80564322-chr5:80589942..80591670,2	K562	blood:

Variant related genes	Relation type
ENSG00000247572	Chromatin interaction
ENSG00000131732	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3378115	chr5:80590421-80592969	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 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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