Variant report

Variant	rs2669165
Chromosome Location	chr12:122148188-122148189
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr12:122147966-122148450	HEK293	kidney:	n/a	n/a
2	HNF4A	chr12:122148187-122148462	HepG2	liver:	n/a	chr12:122148377-122148392 chr12:122148354-122148369
3	TCF12	chr12:122147616-122148222	A549	lung:	n/a	n/a
4	ZNF263	chr12:122148040-122149030	HEK293-T-REx	kidney:	n/a	n/a
5	KAP1	chr12:122147712-122148505	HEK293	kidney:	n/a	n/a
6	TEAD4	chr12:122147481-122148272	HepG2	liver:	n/a	n/a
7	NR2F2	chr12:122147794-122148298	K562	blood:	n/a	n/a
8	SETDB1	chr12:122147598-122148712	U2OS	brain:	n/a	n/a
9	KAP1	chr12:122147513-122148502	U2OS	brain:	n/a	n/a
10	NR2F2	chr12:122147729-122148298	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122146599..122148288-chr12:122150120..122152689,2	K562	blood:
2	chr12:122125187..122126836-chr12:122146753..122149407,2	MCF-7	breast:
3	chr12:122147215..122155218-chr12:122185094..122190846,22	MCF-7	breast:
4	chr12:122145450..122152863-chr12:122233897..122241914,16	MCF-7	breast:
5	chr12:122144032..122148196-chr12:122148717..122152262,7	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM120B	TF binding region
ENSG00000188735	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10743188	0.81[EUR][1000 genomes]
rs10840652	0.83[AMR][1000 genomes]
rs11043179	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1877484	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2309142	0.85[AMR][1000 genomes]
rs2669163	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2669166	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2669168	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2720021	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2720022	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2720025	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720035	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2942368	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2942379	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2954116	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7967415	0.81[AMR][1000 genomes]
rs7978866	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122121800-122149600	Weak transcription	Right Atrium	heart
2	chr12:122142600-122149800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122142800-122149800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:122146000-122149400	Weak transcription	Brain Substantia Nigra	brain
5	chr12:122146400-122149400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr12:122146400-122149600	Enhancers	Fetal Intestine Large	intestine
7	chr12:122146400-122149800	Enhancers	Fetal Intestine Small	intestine
8	chr12:122146800-122149400	Enhancers	HepG2	liver
9	chr12:122147000-122148400	Enhancers	GM12878-XiMat	blood
10	chr12:122147200-122149400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:122147200-122149400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:122147200-122149600	Weak transcription	Thymus	Thymus
13	chr12:122147400-122148200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:122147400-122148800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:122147400-122148800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:122147400-122149400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:122147400-122149400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:122147400-122149800	Enhancers	Fetal Muscle Leg	muscle
19	chr12:122147600-122148200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:122147600-122148200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:122147600-122148200	Enhancers	Psoas Muscle	Psoas
22	chr12:122147600-122148200	Enhancers	A549	lung
23	chr12:122147600-122149200	Weak transcription	Fetal Thymus	thymus
24	chr12:122147600-122149400	Weak transcription	HSMM	muscle
25	chr12:122147800-122148200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:122147800-122148200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:122147800-122148200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:122147800-122148200	Enhancers	NHEK	skin
29	chr12:122147800-122148400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:122147800-122148600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:122148000-122148200	Enhancers	NH-A	brain
32	chr12:122148000-122149000	Weak transcription	Fetal Heart	heart
33	chr12:122148000-122149400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:122148000-122149400	Weak transcription	Stomach Mucosa	stomach
35	chr12:122148000-122149600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr12:122148000-122149600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:122148000-122149600	Enhancers	Adipose Nuclei	Adipose
38	chr12:122148000-122149600	Enhancers	Liver	Liver
39	chr12:122148000-122149800	Enhancers	Fetal Muscle Trunk	muscle
40	chr12:122148000-122149800	Weak transcription	HSMMtube	muscle

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