Variant report

Variant	rs152970
Chromosome Location	chr5:14647844-14647845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13159680	1.00[ASN][1000 genomes]
rs13164197	1.00[JPT][hapmap]
rs149125	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs149497	1.00[ASN][1000 genomes]
rs152719	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs152971	1.00[ASN][1000 genomes]
rs152972	1.00[ASN][1000 genomes]
rs152973	0.94[ASN][1000 genomes]
rs153831	1.00[ASN][1000 genomes]
rs153832	1.00[ASN][1000 genomes]
rs153833	1.00[ASN][1000 genomes]
rs153835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153837	1.00[ASN][1000 genomes]
rs153934	1.00[ASN][1000 genomes]
rs154667	0.94[ASN][1000 genomes]
rs17249895	0.94[ASN][1000 genomes]
rs2455240	1.00[ASN][1000 genomes]
rs250878	1.00[ASN][1000 genomes]
rs25941	0.94[ASN][1000 genomes]
rs25942	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs25943	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28107	1.00[ASN][1000 genomes]
rs31993	0.88[ASN][1000 genomes]
rs31994	0.88[ASN][1000 genomes]
rs31995	0.88[ASN][1000 genomes]
rs34087737	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34617159	1.00[ASN][1000 genomes]
rs39609	0.88[ASN][1000 genomes]
rs455943	1.00[ASN][1000 genomes]
rs457377	1.00[ASN][1000 genomes]
rs461056	0.84[ASN][1000 genomes]
rs620434	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv3450688	chr5:14647077-14649300	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3404560	chr5:14647552-14648800	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs152970	FAM105B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14646200-14648600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:14647600-14649200	Enhancers	NHLF	lung

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