Variant report

Variant	rs73222786
Chromosome Location	chr12:121089935-121089936
allele	A/C
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	chr12:121089642-121090007	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr12:121089688-121089978	IMR90	lung:	n/a	n/a
3	USF1	chr12:121089605-121090051	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr12:121089691-121089937	K562	blood:	n/a	n/a
5	MAX	chr12:121089718-121089952	Hela-S3	cervix:	n/a	n/a
6	USF2	chr12:121089682-121090015	Hela-S3	cervix:	n/a	chr12:121089850-121089861
7	MYC	chr12:121089708-121089980	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr12:121089693-121089961	A549	lung:	n/a	n/a
9	USF1	chr12:121089592-121090105	HCT-116	colon:	n/a	n/a
10	MYC	chr12:121089762-121090179	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr12:121089696-121089973	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr12:121089729-121089947	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121074234..121078810-chr12:121086912..121091656,5	K562	blood:
2	chr12:121082536..121084918-chr12:121088940..121091677,2	K562	blood:

Variant related genes	Relation type
CABP1	TF binding region
ENSG00000256008	Chromatin interaction
ENSG00000157782	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs12821493	1.00[ASN][1000 genomes]
rs2138250	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2233673	1.00[ASN][1000 genomes]
rs34815312	1.00[ASN][1000 genomes]
rs35151295	1.00[ASN][1000 genomes]
rs35267083	1.00[ASN][1000 genomes]
rs3850521	1.00[ASN][1000 genomes]
rs3889470	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55645249	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55647329	1.00[ASN][1000 genomes]
rs55660947	1.00[ASN][1000 genomes]
rs55874815	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55914930	1.00[ASN][1000 genomes]
rs55941696	1.00[ASN][1000 genomes]
rs55970240	1.00[ASN][1000 genomes]
rs55980956	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56084677	1.00[ASN][1000 genomes]
rs56163702	1.00[ASN][1000 genomes]
rs56175661	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56178989	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56183824	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56206244	1.00[ASN][1000 genomes]
rs56231343	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs56284009	1.00[ASN][1000 genomes]
rs56366632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56391085	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56401401	1.00[ASN][1000 genomes]
rs58235352	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73213106	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214885	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73214888	1.00[ASN][1000 genomes]
rs73214894	1.00[ASN][1000 genomes]
rs73214896	1.00[ASN][1000 genomes]
rs73222778	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73222780	1.00[ASN][1000 genomes]
rs73222784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73222787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73222794	1.00[ASN][1000 genomes]
rs73222795	1.00[ASN][1000 genomes]
rs73225003	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225012	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225023	1.00[ASN][1000 genomes]
rs73225093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225101	1.00[ASN][1000 genomes]
rs73227016	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73227022	1.00[ASN][1000 genomes]
rs73227026	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227027	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227029	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227033	1.00[ASN][1000 genomes]
rs73227036	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227038	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229118	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229126	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229149	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229151	1.00[ASN][1000 genomes]
rs73229157	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229160	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229162	1.00[ASN][1000 genomes]
rs73230347	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230349	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230352	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121087200-121091000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:121087600-121090000	Active TSS	Brain Angular Gyrus	brain
3	chr12:121087600-121090200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:121087600-121096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:121087800-121093000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:121088200-121090600	Weak transcription	Brain Anterior Caudate	brain
7	chr12:121088200-121092000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:121088400-121090600	Weak transcription	GM12878-XiMat	blood
9	chr12:121088600-121090400	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:121088600-121090600	Weak transcription	Right Ventricle	heart
11	chr12:121088800-121090000	Enhancers	Placenta	Placenta
12	chr12:121088800-121090600	Weak transcription	Spleen	Spleen
13	chr12:121089000-121090800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:121089000-121091600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:121089000-121092400	Enhancers	Colon Smooth Muscle	Colon
16	chr12:121089200-121090000	Enhancers	A549	lung
17	chr12:121089200-121090200	Enhancers	Right Atrium	heart
18	chr12:121089200-121090200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr12:121089200-121090400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:121089200-121090400	Enhancers	Fetal Stomach	stomach
21	chr12:121089200-121090800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:121089400-121090000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr12:121089400-121090000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:121089400-121090000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr12:121089400-121090800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:121089400-121091000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:121089600-121090000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:121089600-121090000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:121089600-121090000	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr12:121089600-121093000	Enhancers	Adipose Nuclei	Adipose
31	chr12:121089800-121090000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:121089800-121090000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr12:121089800-121090000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
34	chr12:121089800-121090400	Weak transcription	Left Ventricle	heart
35	chr12:121089800-121090800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:121089800-121090800	Weak transcription	Psoas Muscle	Psoas
37	chr12:121089800-121090800	Bivalent Enhancer	NHDF-Ad	bronchial
38	chr12:121089800-121091000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:121089800-121095400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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