Variant report

Variant	rs682481
Chromosome Location	chr5:80973152-80973153
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:80971757..80974379-chr5:80975193..80977880,3	K562	blood:
2	chr5:80965614..80968004-chr5:80970828..80973570,3	K562	blood:
3	chr5:80970290..80973257-chr5:80975148..80979422,4	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1023747	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1095605	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11957810	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1436498	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043646	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs365147	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs380946	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384433	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385332	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385716	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs390171	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs399104	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs402352	0.90[EUR][1000 genomes]
rs406292	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411520	0.89[EUR][1000 genomes]
rs418033	0.90[EUR][1000 genomes]
rs419017	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421348	0.90[EUR][1000 genomes]
rs432617	0.90[EUR][1000 genomes]
rs435901	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs437417	0.90[EUR][1000 genomes]
rs438128	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs445253	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446064	0.90[EUR][1000 genomes]
rs446565	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs447574	0.96[ASN][1000 genomes]
rs452314	0.90[EUR][1000 genomes]
rs453068	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs454487	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs585558	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827065	0.90[EUR][1000 genomes]
rs863772	0.92[AMR][1000 genomes];0.95[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:21 , 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	chr5:80950200-80975600	Weak transcription	Thymus	Thymus
4	chr5:80963400-80983200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:80963400-80983400	Weak transcription	Left Ventricle	heart
6	chr5:80963400-80983800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:80967400-80980000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:80967400-80991400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:80967800-80973600	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:80969800-80973400	Weak transcription	Fetal Heart	heart
11	chr5:80971200-80995800	Weak transcription	HSMMtube	muscle
12	chr5:80972000-80973800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:80972200-80974400	Weak transcription	Primary T cells from cord blood	blood
14	chr5:80972400-80973200	Weak transcription	Psoas Muscle	Psoas
15	chr5:80972600-80973400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:80972600-80973400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:80972600-80973600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:80972600-80973800	Enhancers	Dnd41	blood
19	chr5:80972600-80977000	Weak transcription	Fetal Thymus	thymus
20	chr5:80972800-80973600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:80972800-80973800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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