Variant report

Variant	rs58937248
Chromosome Location	chr5:80976191-80976192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80971757..80974379-chr5:80975193..80977880,3	K562	blood:
2	chr5:80970290..80973257-chr5:80975148..80979422,4	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10053226	1.00[ASN][1000 genomes]
rs10059425	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10062494	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064938	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069094	0.81[AFR][1000 genomes]
rs10074416	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074423	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078696	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10473850	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942277	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942278	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942279	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13359852	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360410	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360536	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13362287	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1373965	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28825230	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55792529	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57778735	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58050716	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58238009	1.00[ASN][1000 genomes]
rs59261412	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6452422	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872195	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6887447	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135661	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137634	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137662	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707946	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710001	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710903	0.85[EUR][1000 genomes]
rs7729317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7736720	0.93[AFR][1000 genomes];0.90[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	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882236	chr5:80930992-80999768	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv882237	chr5:80938489-81006061	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3345018	chr5:80972245-80998709	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3330268	chr5:80972245-81001669	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

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	chr5:80963400-80983200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:80963400-80983400	Weak transcription	Left Ventricle	heart
5	chr5:80963400-80983800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:80967400-80980000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:80967400-80991400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:80971200-80995800	Weak transcription	HSMMtube	muscle
9	chr5:80972600-80977000	Weak transcription	Fetal Thymus	thymus
10	chr5:80973400-80990000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:80973800-80978800	Weak transcription	Dnd41	blood
12	chr5:80973800-80980400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:80974800-80984200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:80976000-80978800	Strong transcription	Primary hematopoietic stem cells	blood
15	chr5:80976000-80980200	Weak transcription	Thymus	Thymus
16	chr5:80976000-80982800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:80976000-80996000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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