Variant report

Variant	rs60586224
Chromosome Location	chr12:58005682-58005683
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	MAX	chr12:58004759-58005695	HepG2	liver:	n/a	chr12:58005549-58005559 chr12:58005577-58005587 chr12:58005016-58005026 chr12:58005375-58005385
2	ZBTB7A	chr12:58005023-58005860	K562	blood:	n/a	n/a
3	ZBTB7A	chr12:58004602-58006076	ECC-1	luminal epithelium:	n/a	n/a
4	MXI1	chr12:58004136-58006760	SK-N-SH	brain:	n/a	n/a
5	CEBPD	chr12:58004985-58005704	HepG2	liver:	n/a	n/a
6	ZBTB7A	chr12:58004757-58005872	K562	blood:	n/a	n/a
7	ELF1	chr12:58005062-58005684	K562	blood:	n/a	chr12:58005313-58005325 chr12:58005505-58005514
8	CREB1	chr12:58004710-58005721	HepG2	liver:	n/a	n/a
9	MAZ	chr12:58004400-58006081	IMR90	lung:	n/a	chr12:58005549-58005559 chr12:58005577-58005587 chr12:58005016-58005026 chr12:58005375-58005385
10	ZBTB7A	chr12:58004671-58006110	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr12:58004786-58005723	K562	blood:	n/a	n/a
12	MAZ	chr12:58004853-58006008	K562	blood:	n/a	chr12:58005549-58005559 chr12:58005577-58005587 chr12:58005016-58005026 chr12:58005375-58005385
13	POLR2A	chr12:58004419-58005727	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:58004618..58008024-chr12:58024930..58028098,5	MCF-7	breast:
2	chr12:57912257..57915408-chr12:58000825..58006358,4	K562	blood:
3	chr12:57930705..57935401-chr12:58001977..58005950,4	K562	blood:
4	chr12:57911699..57918406-chr12:58000825..58010019,18	K562	blood:
5	chr12:58002964..58008004-chr12:58117447..58122099,5	MCF-7	breast:
6	chr12:57938852..57941348-chr12:58005104..58006975,2	K562	blood:
7	chr12:58004396..58008788-chr12:58163385..58167140,4	MCF-7	breast:

Variant related genes	Relation type
ARHGEF25	TF binding region
ENSG00000175203	Chromatin interaction
ENSG00000257921	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000255737	Chromatin interaction
ENSG00000257499	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11172262	0.86[EUR][1000 genomes]
rs1806652	0.87[EUR][1000 genomes]
rs34181394	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71461330	0.81[EUR][1000 genomes]
rs7305391	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7314872	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7964896	0.83[EUR][1000 genomes]
rs812315	0.86[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	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
4	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers 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	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58003000-58005800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:58003200-58005800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr12:58003200-58005800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:58003400-58005800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr12:58003400-58006000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:58003400-58006000	Active TSS	Fetal Kidney	kidney
7	chr12:58003600-58006000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr12:58003600-58006000	Active TSS	Colon Smooth Muscle	Colon
9	chr12:58003600-58006000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
10	chr12:58003600-58006000	Active TSS	Ovary	ovary
11	chr12:58003800-58005800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr12:58003800-58005800	Active TSS	Aorta	Aorta
13	chr12:58003800-58005800	Enhancers	Fetal Brain Male	brain
14	chr12:58003800-58005800	Active TSS	Right Atrium	heart
15	chr12:58003800-58006000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:58003800-58006400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:58003800-58006400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr12:58004000-58006400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr12:58004200-58005800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr12:58004200-58006000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:58004200-58006000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
22	chr12:58004200-58006000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:58004200-58006200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
24	chr12:58004200-58006400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:58004400-58006000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr12:58004400-58006000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:58004400-58006000	Active TSS	Brain Substantia Nigra	brain
28	chr12:58004400-58006200	Active TSS	Brain Angular Gyrus	brain
29	chr12:58004400-58006200	Active TSS	Left Ventricle	heart
30	chr12:58004600-58005800	Active TSS	Rectal Smooth Muscle	rectum
31	chr12:58004600-58005800	Active TSS	Stomach Smooth Muscle	stomach
32	chr12:58004600-58006000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:58004800-58005800	Active TSS	HSMM	muscle
34	chr12:58004800-58006000	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr12:58004800-58006400	Active TSS	Brain Hippocampus Middle	brain
36	chr12:58005000-58005800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:58005000-58005800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:58005000-58005800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
39	chr12:58005000-58005800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:58005000-58005800	Active TSS	Brain Anterior Caudate	brain
41	chr12:58005000-58005800	Active TSS	Fetal Brain Female	brain
42	chr12:58005000-58005800	Active TSS	Fetal Heart	heart
43	chr12:58005000-58005800	Active TSS	Fetal Lung	lung
44	chr12:58005000-58005800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
45	chr12:58005000-58005800	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr12:58005000-58005800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
47	chr12:58005000-58005800	Active TSS	HepG2	liver
48	chr12:58005000-58005800	Active TSS	K562	blood
49	chr12:58005000-58006000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:58005000-58006000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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