Variant report

Variant	rs11168879
Chromosome Location	chr12:49533201-49533202
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49531218..49534507-chr12:49536694..49541334,4	K562	blood:
2	chr12:49523677..49527856-chr12:49529578..49534524,9	MCF-7	breast:
3	chr12:49531993..49533665-chr12:49657893..49660663,2	K562	blood:
4	chr12:49530961..49533783-chr12:49580481..49584287,4	MCF-7	breast:
5	chr12:49533073..49535795-chr12:49661700..49663392,2	K562	blood:
6	chr12:49523563..49525805-chr12:49532349..49533944,2	MCF-7	breast:
7	chr12:49496722..49499441-chr12:49532447..49535372,2	K562	blood:
8	chr12:49532190..49534352-chr12:49552912..49555753,2	K562	blood:
9	chr12:49530122..49533493-chr12:49657704..49660663,3	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000167553	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000167552	Chromatin interaction
ENSG00000139636	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10083069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10160974	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12299500	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12303622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305752	1.00[AMR][1000 genomes]
rs12308393	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12315499	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12317546	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12318545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321116	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3842281	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61730859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7342336	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	esv3417605	chr12:49521878-49578961	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 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	chr12:49527000-49534400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:49527000-49555200	Weak transcription	Thymus	Thymus
3	chr12:49527600-49542400	Weak transcription	A549	lung
4	chr12:49527800-49534600	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:49527800-49537200	Weak transcription	Fetal Intestine Small	intestine
6	chr12:49527800-49542400	Weak transcription	Fetal Brain Male	brain
7	chr12:49527800-49542800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:49527800-49543000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:49528000-49544000	Weak transcription	GM12878-XiMat	blood
10	chr12:49532800-49538200	Weak transcription	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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