Variant report

Variant	rs4766258
Chromosome Location	chr12:4691682-4691683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10744652	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10774242	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10774243	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849098	0.82[ASN][1000 genomes]
rs10849100	0.81[ASN][1000 genomes]
rs11063244	0.82[ASN][1000 genomes]
rs2240766	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.87[ASN][1000 genomes]
rs2359249	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35253288	0.81[ASN][1000 genomes]
rs4766252	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4766253	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766254	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766255	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766257	0.94[CHD][hapmap];0.83[TSI][hapmap];0.81[ASN][1000 genomes]
rs4766259	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv522586	chr12:4688634-4691682	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv526830	chr12:4689013-4691682	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4766258	WNK1	cis	cerebellum	SCAN
rs4766258	C12orf5	cis	parietal	SCAN
rs4766258	AKAP3	cis	parietal	SCAN
rs4766258	VAMP1	cis	parietal	SCAN
rs4766258	RAD51AP1	cis	parietal	SCAN
rs4766258	APOBEC1	cis	cerebellum	SCAN
rs4766258	KCNA5	cis	parietal	SCAN
rs4766258	FBXL14	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4673400-4692200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:4682800-4699600	Weak transcription	Primary B cells from cord blood	blood
3	chr12:4689400-4698800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:4689800-4695600	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:4690400-4691800	Weak transcription	Spleen	Spleen
6	chr12:4690400-4696600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:4691000-4693200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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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