Variant report

Variant	rs12274647
Chromosome Location	chr11:86744474-86744475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:86744467-86744617	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86743752..86746818-chr11:86747037..86750617,4	K562	blood:

Variant related genes	Relation type
TMEM135	TF binding region
ENSG00000166575	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1026410	0.81[AMR][1000 genomes]
rs10898592	0.86[AMR][1000 genomes]
rs11234908	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11234913	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11234914	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11234915	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11234916	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11234920	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234921	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234922	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234926	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11234927	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11234931	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11234934	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11234935	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11234936	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11234949	0.81[AMR][1000 genomes]
rs12270428	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12272440	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12273408	0.81[AMR][1000 genomes]
rs12273779	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12278401	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12282651	0.81[AMR][1000 genomes]
rs12283115	0.81[AMR][1000 genomes]
rs12285441	0.81[AMR][1000 genomes]
rs12286127	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12286867	0.81[AMR][1000 genomes]
rs12289216	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12289267	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12289978	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12294843	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13377595	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17758940	0.81[AMR][1000 genomes]
rs17820632	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41376049	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4578415	0.81[AMR][1000 genomes]
rs4594023	0.81[AMR][1000 genomes]
rs55724663	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55790509	0.81[AMR][1000 genomes]
rs56028118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56117749	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57664476	0.81[AMR][1000 genomes]
rs57933396	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60711353	0.81[AMR][1000 genomes]
rs61119044	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61904170	0.81[AMR][1000 genomes]
rs61904173	0.81[AMR][1000 genomes]
rs61906164	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61906166	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61906167	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61906170	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61906173	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61906192	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61906193	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61906194	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61906203	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61906207	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7947757	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86731800-86748200	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:86735800-86748200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:86740600-86747600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:86740800-86747600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:86741000-86748000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:86742000-86746800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:86742000-86747000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:86742000-86747200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:86742000-86748000	Weak transcription	HMEC	breast
10	chr11:86742000-86748200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:86742000-86748200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:86742000-86748200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:86742200-86744800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:86742200-86747000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:86742200-86747600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr11:86742200-86748000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:86742200-86748000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:86742400-86744600	Weak transcription	K562	blood
19	chr11:86742400-86747600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:86742400-86747600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:86742400-86747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:86742600-86745600	Weak transcription	HepG2	liver
23	chr11:86743000-86746800	Weak transcription	Hela-S3	cervix
24	chr11:86743000-86748200	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:86743200-86748200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:86744200-86747400	Weak transcription	Fetal Brain Male	brain
27	chr11:86744400-86745000	Enhancers	HUES64 Cell Line	embryonic stem cell

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