Variant report

Variant	rs2669168
Chromosome Location	chr12:122135995-122135996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122133700..122136564-chr12:122230848..122233714,3	K562	blood:
2	chr12:122134845..122136380-chr12:122213063..122216045,2	K562	blood:
3	chr12:122133742..122136740-chr12:122185481..122187047,2	MCF-7	breast:
4	chr12:122135150..122137253-chr12:122230158..122231709,2	MCF-7	breast:
5	chr12:122134846..122137148-chr12:122229846..122233417,4	MCF-7	breast:
6	chr12:122134034..122138136-chr12:122226162..122228726,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139725	Chromatin interaction
ENSG00000188735	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10743188	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10840652	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11043179	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12320939	0.96[CEU][hapmap];0.85[CHB][hapmap];0.82[EUR][1000 genomes]
rs1877484	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2309142	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2669163	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2669165	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2669166	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720021	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2720022	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2720024	0.83[AMR][1000 genomes]
rs2720025	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2720035	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2942368	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2942370	0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2942379	0.89[CEU][hapmap];0.95[CHB][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2954116	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3825175	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs3934658	0.81[CEU][hapmap]
rs6486789	0.82[EUR][1000 genomes]
rs7135617	0.81[CEU][hapmap]
rs7296104	0.85[AMR][1000 genomes]
rs7297028	0.84[EUR][1000 genomes]
rs7399127	0.81[CEU][hapmap]
rs7978609	0.82[EUR][1000 genomes]
rs7978866	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr12:122121800-122149600	Weak transcription	Right Atrium	heart
2	chr12:122125400-122137600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:122125400-122139200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:122129400-122139800	Weak transcription	A549	lung
5	chr12:122135400-122139000	Weak transcription	Fetal Intestine Small	intestine
6	chr12:122135400-122139200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:122135600-122139000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:122135600-122139400	Weak transcription	Hela-S3	cervix

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