Variant report

Variant	rs62485379
Chromosome Location	chr7:140630353-140630354
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:140630279-140630479	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140628908..140630536-chr7:140632572..140635198,2	K562	blood:

Variant related genes	Relation type
ENSG00000271611	TF binding region
ENSG00000271611	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10281975	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10488098	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11983228	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438418	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476868	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17622717	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17623204	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17695341	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17695623	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17695707	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17695935	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17695995	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1968140	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2079827	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs246739	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs41282721	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55720380	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55875248	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56055746	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56115934	0.80[EUR][1000 genomes]
rs56347011	0.93[EUR][1000 genomes]
rs56940988	0.84[EUR][1000 genomes]
rs57143942	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57620608	0.84[EUR][1000 genomes]
rs57675404	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57846481	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58901822	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs59183598	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59232128	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59315265	0.81[ASN][1000 genomes]
rs59477283	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59816436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60081231	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60251368	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61421775	0.84[EUR][1000 genomes]
rs62484288	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62484291	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62484294	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62484295	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62484299	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62484300	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62485366	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62485368	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62485369	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62485370	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62485372	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62485377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62485383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485390	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62485391	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62485452	0.82[EUR][1000 genomes]
rs62485453	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62487899	0.84[EUR][1000 genomes]
rs62487901	0.84[EUR][1000 genomes]
rs62487902	0.86[EUR][1000 genomes]
rs62487904	0.88[EUR][1000 genomes]
rs62487906	0.88[EUR][1000 genomes]
rs62487911	0.85[EUR][1000 genomes]
rs62487912	0.93[EUR][1000 genomes]
rs62487913	0.89[EUR][1000 genomes]
rs62487914	0.84[EUR][1000 genomes]
rs62487916	0.84[EUR][1000 genomes]
rs62487918	0.84[EUR][1000 genomes]
rs62487920	0.84[EUR][1000 genomes]
rs62487921	0.84[EUR][1000 genomes]
rs62487923	0.84[EUR][1000 genomes]
rs71645962	0.84[EUR][1000 genomes]
rs71645993	0.84[EUR][1000 genomes]
rs73492596	0.81[EUR][1000 genomes]
rs7810757	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62485379	BRAF	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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