Variant report

Variant	rs7930233
Chromosome Location	chr11:17744607-17744608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10766416	0.80[EUR][1000 genomes]
rs10766420	0.84[EUR][1000 genomes]
rs10766425	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10832842	0.80[EUR][1000 genomes]
rs10832845	0.84[EUR][1000 genomes]
rs10832851	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10832852	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11024384	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11603216	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11603221	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2336849	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3858508	0.85[EUR][1000 genomes]
rs3890009	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3901226	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3911833	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4083362	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6416178	0.82[EUR][1000 genomes]
rs6486390	0.82[EUR][1000 genomes]
rs7106809	0.84[EUR][1000 genomes]
rs7107526	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937727	0.80[EUR][1000 genomes]

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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17741800-17750200	Weak transcription	Right Atrium	heart
2	chr11:17744200-17744800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr11:17744200-17745000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
4	chr11:17744200-17745600	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr11:17744200-17755400	Weak transcription	Psoas Muscle	Psoas
6	chr11:17744400-17745000	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr11:17744600-17744800	Active TSS	HSMM	muscle
8	chr11:17744600-17745000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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