Variant report

Variant	rs11228693
Chromosome Location	chr11:56413925-56413926
allele	A/C
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	EBF1	chr11:56413759-56414053	GM12878	blood:	n/a	chr11:56413872-56413881 chr11:56413870-56413881 chr11:56413870-56413883

Variant related genes	Relation type
OR5AP2	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10501354	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs10736676	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10736677	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10736678	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10792038	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs10792039	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10792040	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10792043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10896501	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11228641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11228673	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs11228676	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs11228684	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11228686	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11228687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11228694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228698	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228706	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228759	0.94[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap]
rs11228760	0.94[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap]
rs11228763	0.94[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap]
rs11228769	0.90[JPT][hapmap]
rs12222989	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223492	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12418150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12418301	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1473592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1605924	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17150739	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1945196	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1945206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1945261	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs1945263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1945282	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2202932	0.94[ASN][1000 genomes]
rs2511143	0.82[ASN][1000 genomes]
rs2865516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33995115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs4500505	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4939061	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4939065	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4939066	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs583216	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs583589	0.82[ASN][1000 genomes]
rs584608	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs588805	0.82[ASN][1000 genomes]
rs592744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs597680	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs600187	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs611397	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs614942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs61710550	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs628524	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs637912	0.82[ASN][1000 genomes]
rs642630	0.82[ASN][1000 genomes]
rs643384	0.82[ASN][1000 genomes]
rs645351	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs646286	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs654634	0.82[ASN][1000 genomes]
rs655779	0.82[ASN][1000 genomes]
rs656565	0.82[ASN][1000 genomes]
rs6591381	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs674431	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs676901	0.82[ASN][1000 genomes]
rs688832	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs7924528	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7939886	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050024	chr11:55900482-56518943	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
2	nsv497854	chr11:55917298-56537994	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv468576	chr11:56299930-56420029	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv555099	chr11:56299930-56420029	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv971952	chr11:56361311-56452186	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv949349	chr11:56371633-56593610	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1051853	chr11:56393347-56523720	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 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
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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