Variant report

Variant	rs1378262
Chromosome Location	chr5:119854449-119854450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119852641..119855403-chr5:119858663..119861465,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10035683	0.81[AFR][1000 genomes]
rs10052263	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060164	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064951	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065330	0.81[AFR][1000 genomes]
rs10213989	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10478472	0.81[AFR][1000 genomes]
rs10478473	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10478474	0.81[AFR][1000 genomes]
rs10519636	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949016	0.81[AFR][1000 genomes]
rs13356306	0.85[AFR][1000 genomes]
rs13359288	0.83[AFR][1000 genomes]
rs13361121	0.81[AFR][1000 genomes]
rs1454982	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16766	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17146705	0.91[ASN][1000 genomes]
rs1823926	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1823927	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655066	0.80[ASN][1000 genomes]
rs2691097	0.87[ASN][1000 genomes]
rs2691100	0.80[ASN][1000 genomes]
rs300956	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300957	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3991306	0.95[ASN][1000 genomes]
rs4476747	0.81[AFR][1000 genomes]
rs6865123	0.80[ASN][1000 genomes]
rs6892665	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6895369	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786260	0.95[ASN][1000 genomes]
rs72788222	0.95[ASN][1000 genomes]
rs72788223	0.91[ASN][1000 genomes]
rs72788224	0.91[ASN][1000 genomes]
rs72788231	0.91[ASN][1000 genomes]
rs72788238	0.95[ASN][1000 genomes]
rs7448156	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7702580	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7710004	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7710848	0.82[AFR][1000 genomes]
rs7710928	0.81[AFR][1000 genomes]
rs7728098	0.81[AFR][1000 genomes]
rs7733602	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs921782	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9327144	0.81[AFR][1000 genomes]
rs9327145	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9687538	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv462427	chr5:119838923-119928674	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599601	chr5:119838923-119928674	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119839800-119879800	Weak transcription	Psoas Muscle	Psoas
2	chr5:119844200-119864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:119852200-119854600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:119852200-119854600	Enhancers	Osteobl	bone
5	chr5:119852200-119855000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:119852400-119854600	Enhancers	K562	blood
7	chr5:119853200-119863000	Weak transcription	HSMM	muscle
8	chr5:119853400-119864000	Weak transcription	NHDF-Ad	bronchial
9	chr5:119853800-119856400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:119853800-119862800	Weak transcription	HSMMtube	muscle
11	chr5:119854000-119854600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:119854000-119868800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:119854400-119854600	Enhancers	NH-A	brain

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