Variant report

Variant	rs2249104
Chromosome Location	chr11:17738564-17738565
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11024386	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418323	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420653	1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]
rs16934767	1.00[JPT][hapmap]
rs2734554	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs2734555	0.95[EUR][1000 genomes]
rs34274198	0.85[EUR][1000 genomes]
rs36128271	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858500	1.00[JPT][hapmap]
rs3858510	1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs3858511	0.91[EUR][1000 genomes]
rs3858512	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4044329	1.00[JPT][hapmap]
rs4756911	1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs7938556	0.81[LWK][hapmap];0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040065	chr11:17556031-17753467	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv467717	chr11:17713507-17791822	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv553588	chr11:17713507-17791822	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv825772	chr11:17723530-17783128	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1037585	chr11:17730586-17768346	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17736800-17739800	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr11:17736800-17740400	Weak transcription	Psoas Muscle	Psoas
3	chr11:17736800-17740400	Weak transcription	HSMM	muscle
4	chr11:17736800-17740600	Weak transcription	HSMMtube	muscle
5	chr11:17736800-17741000	Weak transcription	Right Atrium	heart
6	chr11:17737000-17739000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:17738200-17738600	Enhancers	K562	blood

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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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