Variant report

Variant	rs421642
Chromosome Location	chr12:45309615-45309616
allele	C/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	MAFK	chr12:45309523-45310115	H1-hESC	embryonic stem cell:	n/a	chr12:45309929-45309943 chr12:45309928-45309944 chr12:45309926-45309946 chr12:45309932-45309942 chr12:45309925-45309940

Variant related genes	Relation type
NELL2	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11182702	1.00[CHB][hapmap]
rs11182799	1.00[CEU][hapmap]
rs11182800	1.00[CEU][hapmap]
rs1349354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1450550	1.00[ASW][hapmap]
rs1450557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1450558	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2658973	1.00[ASW][hapmap]
rs2658976	1.00[TSI][hapmap]
rs268023	0.91[YRI][hapmap]
rs268024	1.00[YRI][hapmap]
rs268025	0.91[YRI][hapmap]
rs268026	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap]
rs268027	1.00[CHB][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs268028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs268032	0.82[YRI][hapmap]
rs268038	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs268039	0.82[YRI][hapmap]
rs268040	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710424	1.00[TSI][hapmap]
rs2731059	0.82[YRI][hapmap]
rs372281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402960	0.84[YRI][hapmap]
rs405751	0.82[YRI][hapmap]
rs415380	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425857	0.82[YRI][hapmap]
rs439541	0.82[YRI][hapmap]
rs444468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56107139	1.00[EUR][1000 genomes]
rs59173350	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59476102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59796533	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7295338	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73279107	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73279120	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73279132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73279138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73279180	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73279189	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74080462	1.00[EUR][1000 genomes]
rs74080477	1.00[EUR][1000 genomes]
rs74080481	1.00[EUR][1000 genomes]
rs7955554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899049	chr12:45299202-45376053	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv899050	chr12:45299202-45400614	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv899051	chr12:45307633-45376053	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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