Variant report

Variant	rs1168069
Chromosome Location	chr12:121084587-121084588
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	CTCF	chr12:121084572-121085108	Spleen_OC	spleen:	n/a	chr12:121084906-121084924 chr12:121084909-121084922
2	CTCF	chr12:121084553-121084690	GM10266	blood:	n/a	n/a
3	RAD21	chr12:121084569-121085310	HCT-116	colon:	n/a	chr12:121084912-121084922 chr12:121084907-121084926 chr12:121084910-121084923
4	RAD21	chr12:121084587-121085151	H1-hESC	embryonic stem cell:	n/a	chr12:121084912-121084922 chr12:121084907-121084926 chr12:121084910-121084923
5	CTCF	chr12:121084581-121084629	GM13977	blood:	n/a	n/a
6	CTCF	chr12:121084361-121085193	SK-N-SH	brain:	n/a	chr12:121084906-121084924 chr12:121084909-121084922
7	RAD21	chr12:121084586-121085200	A549	lung:	n/a	chr12:121084912-121084922 chr12:121084907-121084926 chr12:121084910-121084923
8	CTCF	chr12:121084430-121085318	HCT-116	colon:	n/a	chr12:121084906-121084924 chr12:121084909-121084922
9	TCF12	chr12:121084481-121085094	A549	lung:	n/a	n/a
10	CTCF	chr12:121084466-121085342	A549	lung:	n/a	chr12:121084906-121084924 chr12:121084909-121084922
11	CTCF	chr12:121084560-121084710	Caco-2	colon:	n/a	n/a
12	SMC3	chr12:121084552-121085373	SK-N-SH	brain:	n/a	chr12:121084912-121084922 chr12:121084908-121084922
13	RAD21	chr12:121084547-121085413	SK-N-SH	brain:	n/a	chr12:121084912-121084922 chr12:121084907-121084926 chr12:121084910-121084923
14	CTCF	chr12:121084460-121084610	GM12864	blood:	n/a	n/a
15	CTCF	chr12:121084561-121084649	GM12892	blood:	n/a	n/a
16	CTCF	chr12:121084560-121084667	GM19240	blood:	n/a	n/a
17	CTCF	chr12:121084460-121084610	HMEC	breast:	n/a	n/a
18	MXI1	chr12:121084264-121085334	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121079111..121080885-chr12:121083194..121085742,2	K562	blood:
2	chr12:121084519..121085438-chr12:121151413..121152244,4	MCF-7	breast:
3	chr12:121084474..121085355-chr12:121151432..121152310,2	MCF-7	breast:
4	chr12:121082536..121084918-chr12:121088940..121091677,2	K562	blood:
5	chr12:121083460..121086406-chr12:121125581..121127490,2	K562	blood:
6	chr12:121083368..121085683-chr12:121126949..121129432,2	MCF-7	breast:
7	chr12:121079111..121082636-chr12:121084242..121087390,3	K562	blood:

Variant related genes	Relation type
CABP1	TF binding region
ENSG00000256008	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1168067	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1168070	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12423417	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2461507	0.81[ASN][1000 genomes]
rs2673617	0.89[ASN][1000 genomes]
rs2686552	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2686555	0.89[ASN][1000 genomes]
rs2859263	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs473121	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4766975	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767921	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs495265	0.89[ASN][1000 genomes]
rs496212	0.88[ASN][1000 genomes]
rs513175	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs522632	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs526007	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs555379	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs568489	0.89[ASN][1000 genomes]
rs569499	0.89[ASN][1000 genomes]
rs715120	0.92[ASN][1000 genomes]
rs7305821	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121079600-121086800	Weak transcription	Right Atrium	heart
2	chr12:121083200-121084600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:121083800-121085200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr12:121084000-121084800	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr12:121084000-121084800	Enhancers	Skeletal Muscle Male	skeletal muscle

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