Variant report

Variant	rs57818143
Chromosome Location	chr12:124492715-124492716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:124492710-124493096	NB4	blood:	n/a	n/a
2	CEBPB	chr12:124492626-124492975	K562	blood:	n/a	n/a
3	CEBPB	chr12:124492431-124493030	IMR90	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:124464712..124466327-chr12:124492500..124494762,2	K562	blood:
2	chr12:124485640..124488869-chr12:124491698..124495418,5	K562	blood:
3	chr12:124492436..124495836-chr12:124497804..124500865,3	K562	blood:
4	chr12:124490934..124492514-chr12:124492515..124494381,2	K562	blood:
5	chr12:124491034..124493507-chr12:124494589..124496940,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256827	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11608738	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1873224	1.00[AFR][1000 genomes]
rs55680811	0.98[AFR][1000 genomes]
rs55996758	0.89[AFR][1000 genomes]
rs56169314	0.97[AFR][1000 genomes]
rs57531416	0.94[AFR][1000 genomes]
rs58157153	0.94[AFR][1000 genomes]
rs58621770	0.98[AFR][1000 genomes]
rs60980349	0.94[AFR][1000 genomes]
rs61151021	0.98[AFR][1000 genomes]
rs7976904	1.00[AFR][1000 genomes]
rs939464	0.94[AFR][1000 genomes]
rs952631	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3493374	chr12:124458433-124496012	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3493363	chr12:124458497-124495976	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3493385	chr12:124458565-124495928	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124461200-124496800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:124479400-124493400	Strong transcription	Dnd41	blood
3	chr12:124479800-124493000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:124480600-124496200	Weak transcription	Small Intestine	intestine
5	chr12:124481600-124492800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:124483600-124494800	Weak transcription	HUVEC	blood vessel
7	chr12:124483600-124495000	Weak transcription	NH-A	brain
8	chr12:124483800-124493000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:124484400-124498400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:124485000-124498800	Strong transcription	Hela-S3	cervix
11	chr12:124486000-124496400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:124486400-124496200	Weak transcription	HMEC	breast
13	chr12:124486800-124496200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:124486800-124496200	Weak transcription	NHLF	lung
15	chr12:124487000-124495200	Weak transcription	Osteobl	bone
16	chr12:124487000-124495800	Weak transcription	Ovary	ovary
17	chr12:124487200-124495400	Weak transcription	Esophagus	oesophagus
18	chr12:124488400-124498400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:124488600-124493400	Genic enhancers	Fetal Muscle Leg	muscle
20	chr12:124488800-124493200	Genic enhancers	Fetal Intestine Small	intestine
21	chr12:124489200-124493400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr12:124489200-124495000	Weak transcription	A549	lung
23	chr12:124489200-124510400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:124489400-124495000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:124489800-124493000	Enhancers	Fetal Heart	heart
26	chr12:124489800-124493600	Enhancers	Brain Hippocampus Middle	brain
27	chr12:124489800-124496200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:124490000-124493600	Enhancers	Brain Anterior Caudate	brain
29	chr12:124490000-124493600	Enhancers	Brain Cingulate Gyrus	brain
30	chr12:124490000-124493600	Enhancers	Right Atrium	heart
31	chr12:124490200-124492800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:124490200-124493000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:124490200-124493000	Genic enhancers	K562	blood
34	chr12:124490200-124493200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr12:124490200-124493400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr12:124490200-124493600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:124490200-124493600	Enhancers	Liver	Liver
38	chr12:124490200-124493600	Enhancers	Brain Angular Gyrus	brain
39	chr12:124490200-124493600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:124490400-124493000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr12:124490400-124493000	Enhancers	Primary T cells fromperipheralblood	blood
42	chr12:124490400-124493000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr12:124490400-124498800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr12:124490400-124500400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:124490600-124492800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:124490600-124493600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr12:124490600-124493800	Enhancers	Brain Substantia Nigra	brain
48	chr12:124490600-124494400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:124490600-124495000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:124490800-124492800	Strong transcription	HepG2	liver

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