Variant report

Variant	rs12417341
Chromosome Location	chr11:85333459-85333460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85317935..85319449-chr11:85332481..85334834,2	K562	blood:
2	chr11:85327193..85329301-chr11:85331171..85334042,2	K562	blood:
3	chr11:85325599..85330244-chr11:85330316..85333525,6	K562	blood:
4	chr11:85332546..85334884-chr11:85335363..85336942,2	MCF-7	breast:
5	chr11:85330039..85331994-chr11:85332120..85334164,2	MCF-7	breast:
6	chr11:85333278..85335026-chr11:85337276..85339579,2	K562	blood:

Variant related genes	Relation type
ENSG00000150672	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10501595	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11234359	0.81[ASN][1000 genomes]
rs11603984	0.81[ASN][1000 genomes]
rs11604028	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11607685	0.86[EUR][1000 genomes]
rs11820071	0.90[ASN][1000 genomes]
rs1192	0.98[ASN][1000 genomes]
rs1214001	0.95[ASN][1000 genomes]
rs12419172	0.89[ASN][1000 genomes]
rs1425223	0.80[ASN][1000 genomes]
rs1504027	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs158217	0.86[EUR][1000 genomes]
rs17148254	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17148293	0.97[ASN][1000 genomes]
rs17148306	0.96[ASN][1000 genomes]
rs17208492	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17208519	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17810659	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1806414	0.86[EUR][1000 genomes]
rs184057	0.86[EUR][1000 genomes]
rs185932	0.86[EUR][1000 genomes]
rs1892872	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1954757	0.86[EUR][1000 genomes]
rs1991923	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs207060	0.86[EUR][1000 genomes]
rs2162055	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290823	0.97[ASN][1000 genomes]
rs2467059	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2512800	0.86[EUR][1000 genomes]
rs286494	0.86[EUR][1000 genomes]
rs286509	0.86[EUR][1000 genomes]
rs286512	0.86[EUR][1000 genomes]
rs286521	0.86[EUR][1000 genomes]
rs286522	0.86[EUR][1000 genomes]
rs286523	0.82[EUR][1000 genomes]
rs286524	0.86[EUR][1000 genomes]
rs286525	0.86[EUR][1000 genomes]
rs286530	0.83[EUR][1000 genomes]
rs286531	0.86[EUR][1000 genomes]
rs286534	0.86[EUR][1000 genomes]
rs286537	0.86[EUR][1000 genomes]
rs286538	0.86[EUR][1000 genomes]
rs286539	0.86[EUR][1000 genomes]
rs286540	0.86[EUR][1000 genomes]
rs286541	0.85[EUR][1000 genomes]
rs290177	0.87[ASN][1000 genomes]
rs290178	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs290182	0.99[ASN][1000 genomes]
rs290186	0.93[ASN][1000 genomes]
rs35097455	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35844123	0.97[ASN][1000 genomes]
rs4280023	0.86[ASN][1000 genomes]
rs4943925	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944527	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944529	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944531	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4944532	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs497698	0.93[ASN][1000 genomes]
rs55739259	0.86[ASN][1000 genomes]
rs56073783	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56238215	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56273824	0.81[ASN][1000 genomes]
rs56321405	0.81[ASN][1000 genomes]
rs56579	0.86[ASN][1000 genomes]
rs56737296	0.86[ASN][1000 genomes]
rs57223077	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58152312	0.97[ASN][1000 genomes]
rs58931064	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60484561	0.81[ASN][1000 genomes]
rs60838923	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61133973	0.84[ASN][1000 genomes]
rs61286868	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62388	0.86[EUR][1000 genomes]
rs6592252	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592253	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7108132	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7108137	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7115250	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7119617	0.94[ASN][1000 genomes]
rs73499156	0.81[ASN][1000 genomes]
rs73499163	0.81[ASN][1000 genomes]
rs7939217	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7943586	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs881121	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs947861	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs947862	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs947863	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85317800-85337600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:85320000-85337600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:85320000-85337600	Weak transcription	Psoas Muscle	Psoas
4	chr11:85321800-85336600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:85323400-85337600	Weak transcription	Left Ventricle	heart
6	chr11:85323800-85337600	Weak transcription	Liver	Liver
7	chr11:85324800-85338000	Weak transcription	Fetal Brain Male	brain
8	chr11:85331200-85338200	Weak transcription	Lung	lung
9	chr11:85332200-85337600	Weak transcription	Brain Angular Gyrus	brain
10	chr11:85332600-85336200	Weak transcription	Fetal Lung	lung

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