Variant report

Variant	rs4257011
Chromosome Location	chr12:57528197-57528198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr12:57525540-57528414	IMR90	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:57520108..57523293-chr12:57525745..57528597,4	MCF-7	breast:
2	chr12:57521080..57523777-chr12:57528183..57530441,2	MCF-7	breast:
3	chr12:57520290..57524994-chr12:57525334..57528665,7	K562	blood:
4	chr12:57527304..57529324-chr12:57534338..57535887,2	K562	blood:
5	chr12:57525779..57529405-chr12:57538402..57541799,3	MCF-7	breast:

No data

Variant related genes	Relation type
STAT6	TF binding region
ENSG00000123384	Chromatin interaction
ENSG00000259125	Chromatin interaction
ENSG00000166888	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10747776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876964	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10876965	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11172114	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1385526	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1466535	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4367982	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4759045	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4759277	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57523000-57530400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:57523400-57557200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:57523600-57528200	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr12:57523600-57529600	Enhancers	A549	lung
5	chr12:57523600-57532400	Weak transcription	Pancreas	Pancrea
6	chr12:57523800-57529600	Enhancers	Stomach Mucosa	stomach
7	chr12:57523800-57530000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:57523800-57530600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:57523800-57532600	Weak transcription	Gastric	stomach
10	chr12:57523800-57537000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:57524000-57528200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:57524000-57530400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr12:57524000-57530400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:57524000-57542200	Weak transcription	HMEC	breast
15	chr12:57524000-57543000	Weak transcription	NHEK	skin
16	chr12:57524400-57529200	Genic enhancers	Fetal Stomach	stomach
17	chr12:57524400-57530000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:57524600-57529400	Enhancers	Placenta	Placenta
19	chr12:57524600-57530400	Enhancers	Left Ventricle	heart
20	chr12:57524800-57530600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:57524800-57530800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:57525200-57529400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr12:57525200-57529800	Enhancers	Duodenum Mucosa	Duodenum
24	chr12:57525400-57529400	Genic enhancers	Fetal Intestine Small	intestine
25	chr12:57525600-57528200	Enhancers	Fetal Heart	heart
26	chr12:57525800-57529200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:57525800-57529400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:57525800-57531800	Weak transcription	Small Intestine	intestine
29	chr12:57525800-57534200	Genic enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:57526000-57528400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:57526000-57530400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:57526000-57531000	Enhancers	Brain Angular Gyrus	brain
33	chr12:57526200-57528200	Flanking Active TSS	Osteobl	bone
34	chr12:57526200-57534800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:57526400-57528200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr12:57526400-57528400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:57526400-57528400	Enhancers	Colonic Mucosa	Colon
38	chr12:57526400-57528800	Enhancers	Brain Substantia Nigra	brain
39	chr12:57526400-57529000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr12:57526400-57529200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:57526400-57529400	Enhancers	Fetal Muscle Trunk	muscle
42	chr12:57526400-57529600	Enhancers	Ovary	ovary
43	chr12:57526400-57530000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:57526400-57530800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:57526400-57532400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:57526600-57528800	Enhancers	Fetal Lung	lung
47	chr12:57526600-57529000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr12:57526600-57529400	Enhancers	Brain Cingulate Gyrus	brain
49	chr12:57526600-57529800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:57526600-57532200	Enhancers	Liver	Liver

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