Variant report

Variant	rs12272440
Chromosome Location	chr11:86746857-86746858
allele	C/T
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	EP300	chr11:86746768-86749151	K562	blood:	n/a	chr11:86748800-86748816 chr11:86748799-86748815
2	JUN	chr11:86746853-86747438	K562	blood:	n/a	n/a
3	RCOR1	chr11:86746828-86747533	K562	blood:	n/a	n/a
4	ARID3A	chr11:86746817-86747306	K562	blood:	n/a	n/a
5	GATA2	chr11:86746812-86747096	SH-SY5Y	brain:	n/a	n/a
6	ZNF384	chr11:86746711-86749224	K562	blood:	n/a	n/a
7	TAL1	chr11:86746724-86747552	K562	blood:	n/a	n/a
8	GATA3	chr11:86746738-86747045	SH-SY5Y	brain:	n/a	n/a
9	MYC	chr11:86746836-86747523	K562	blood:	n/a	n/a
10	CUX1	chr11:86746705-86747270	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86745920..86747956-chr11:88147015..88149207,2	K562	blood:
2	chr11:86711685..86713729-chr11:86746154..86748581,2	K562	blood:

Variant related genes	Relation type
TMEM135	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11234908	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11234913	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11234914	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11234915	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11234916	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11234920	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11234921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11234922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11234926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11234927	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11234931	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11234934	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11234935	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11234936	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12270428	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12273779	0.90[EUR][1000 genomes]
rs12274647	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12278401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286127	0.89[EUR][1000 genomes]
rs12289216	0.90[EUR][1000 genomes]
rs12289267	0.90[EUR][1000 genomes]
rs12289978	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12294843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13377595	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17820632	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41376049	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55724663	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56028118	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56117749	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57933396	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61119044	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61906164	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61906166	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61906167	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61906170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61906173	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61906192	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61906193	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61906194	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61906203	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61906207	0.90[EUR][1000 genomes]
rs7947757	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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:42 , 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	chr11:86742000-86747000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:86742000-86747200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:86742000-86748000	Weak transcription	HMEC	breast
9	chr11:86742000-86748200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:86742000-86748200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:86742000-86748200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:86742200-86747000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:86742200-86747600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr11:86742200-86748000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:86742200-86748000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:86742400-86747600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:86742400-86747600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:86742400-86747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:86743000-86748200	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:86743200-86748200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:86744200-86747400	Weak transcription	Fetal Brain Male	brain
22	chr11:86745000-86747000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:86745000-86747400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:86745000-86747800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:86745400-86747000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:86745400-86747000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:86745600-86747600	Enhancers	HepG2	liver
28	chr11:86745800-86747000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:86745800-86748000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:86746000-86748000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:86746400-86748200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:86746600-86748000	Enhancers	Adipose Nuclei	Adipose
33	chr11:86746600-86748200	Enhancers	NHDF-Ad	bronchial
34	chr11:86746800-86747000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr11:86746800-86747200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:86746800-86747200	Flanking Active TSS	K562	blood
37	chr11:86746800-86747600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr11:86746800-86748000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr11:86746800-86748000	Enhancers	Hela-S3	cervix
40	chr11:86746800-86748200	Enhancers	H9 Cell Line	embryonic stem cell
41	chr11:86746800-86748200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:86746800-86748200	Enhancers	Brain Substantia Nigra	brain

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