Variant report

Variant	rs59451063
Chromosome Location	chr12:46929619-46929620
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	MAFK	chr12:46929604-46929776	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:46927349..46929035-chr12:46929088..46931055,2	MCF-7	breast:
2	chr12:46923809..46925445-chr12:46927619..46930546,2	K562	blood:
3	chr12:46766228..46769097-chr12:46928129..46930595,2	K562	blood:

Variant related genes	Relation type
ENSG00000272369	TF binding region
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11183500	1.00[EUR][1000 genomes]
rs11183510	1.00[EUR][1000 genomes]
rs11183512	1.00[EUR][1000 genomes]
rs11183513	1.00[EUR][1000 genomes]
rs11830080	1.00[AMR][1000 genomes]
rs11830086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834444	1.00[EUR][1000 genomes]
rs11837634	1.00[AMR][1000 genomes]
rs12296783	1.00[EUR][1000 genomes]
rs12317179	1.00[EUR][1000 genomes]
rs12321960	1.00[EUR][1000 genomes]
rs17096996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2408578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34098443	1.00[EUR][1000 genomes]
rs3935048	1.00[EUR][1000 genomes]
rs55649919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55698768	1.00[AMR][1000 genomes]
rs56160202	1.00[AMR][1000 genomes]
rs60325164	1.00[AMR][1000 genomes]
rs60876255	1.00[EUR][1000 genomes]
rs61351787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082237	1.00[AMR][1000 genomes]
rs74082263	1.00[AMR][1000 genomes]
rs74082274	1.00[AMR][1000 genomes]
rs74082433	1.00[AMR][1000 genomes]
rs74082454	1.00[AMR][1000 genomes]
rs74083751	1.00[AMR][1000 genomes]
rs74083758	1.00[AMR][1000 genomes]
rs74084124	1.00[AMR][1000 genomes]
rs74085404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085442	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085444	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74085447	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7975472	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7980023	1.00[EUR][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	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46919200-46929800	Weak transcription	A549	lung
2	chr12:46925200-46940600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:46925400-46930600	Weak transcription	Right Ventricle	heart
4	chr12:46925400-46939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:46925400-46940200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:46925600-46940000	Weak transcription	NHEK	skin
7	chr12:46925800-46940200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:46926000-46929800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:46926400-46939000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:46927400-46930400	Enhancers	Fetal Intestine Small	intestine
11	chr12:46927600-46930800	Enhancers	K562	blood
12	chr12:46927600-46933000	Enhancers	Fetal Muscle Leg	muscle
13	chr12:46927600-46933600	Enhancers	Fetal Heart	heart
14	chr12:46927800-46930400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:46928000-46930000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:46928200-46929800	Enhancers	Fetal Lung	lung
17	chr12:46928400-46948600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:46928600-46930000	Enhancers	Fetal Intestine Large	intestine
19	chr12:46928600-46931200	Weak transcription	Psoas Muscle	Psoas
20	chr12:46928800-46932800	Weak transcription	Ovary	ovary
21	chr12:46929000-46929800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:46929000-46930200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:46929000-46933400	Enhancers	HepG2	liver
24	chr12:46929200-46930000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:46929400-46930800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr12:46929400-46930800	Enhancers	Right Atrium	heart
27	chr12:46929600-46930200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:46929600-46930400	Enhancers	Left Ventricle	heart
29	chr12:46929600-46930600	Enhancers	Primary hematopoietic stem cells	blood
30	chr12:46929600-46930600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr12:46929600-46930800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:46929600-46933800	Enhancers	Skeletal Muscle Female	skeletal muscle

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