Variant report

Variant	rs7713853
Chromosome Location	chr5:80302910-80302911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62367399	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293830	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293831	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv830360	chr5:80283278-80446040	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv4897	chr5:80284196-80330223	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80299600-80304400	Enhancers	Fetal Thymus	thymus
2	chr5:80300000-80313000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:80300400-80304800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:80300400-80312800	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:80300400-80316600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:80300400-80318400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:80300600-80303400	Weak transcription	Brain Substantia Nigra	brain
8	chr5:80300800-80306200	Weak transcription	Fetal Lung	lung
9	chr5:80301200-80303000	Weak transcription	Adipose Nuclei	Adipose
10	chr5:80301600-80305000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:80302000-80303000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr5:80302000-80304600	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr5:80302200-80303200	Enhancers	HepG2	liver
14	chr5:80302200-80303800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr5:80302200-80304000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr5:80302200-80304400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr5:80302200-80304600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr5:80302400-80303000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:80302400-80303000	Flanking Active TSS	Thymus	Thymus
20	chr5:80302400-80303600	Enhancers	GM12878-XiMat	blood
21	chr5:80302400-80303800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr5:80302400-80303800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:80302400-80303800	Enhancers	Right Atrium	heart
24	chr5:80302400-80303800	Enhancers	Spleen	Spleen
25	chr5:80302400-80303800	Flanking Active TSS	Dnd41	blood
26	chr5:80302400-80304000	Enhancers	Primary hematopoietic stem cells	blood
27	chr5:80302400-80304000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:80302400-80304000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr5:80302400-80304400	Enhancers	Primary B cells from cord blood	blood
30	chr5:80302400-80304400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:80302600-80303000	Enhancers	Brain Angular Gyrus	brain
32	chr5:80302600-80303000	Weak transcription	Left Ventricle	heart
33	chr5:80302600-80303400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:80302600-80303400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:80302600-80303800	Enhancers	Brain Cingulate Gyrus	brain
36	chr5:80302800-80303000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:80302800-80303000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:80302800-80303000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr5:80302800-80303200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr5:80302800-80303200	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr5:80302800-80303800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:80302800-80304200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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