Variant report

Variant	rs12426183
Chromosome Location	chr12:104233393-104233394
allele	C/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	MXI1	chr12:104233369-104236110	IMR90	lung:	n/a	n/a
2	FOXA2	chr12:104231871-104233542	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104219162..104221997-chr12:104232338..104234895,2	K562	blood:
2	chr12:104226069..104228785-chr12:104231042..104233623,3	MCF-7	breast:
3	chr12:104208263..104213427-chr12:104233273..104236383,5	K562	blood:

Variant related genes	Relation type
ENSG00000257327	TF binding region
ENSG00000257754	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12426161	0.97[EUR][1000 genomes]
rs12426202	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12426220	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12582800	0.97[EUR][1000 genomes]
rs17180749	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17795280	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17795947	0.87[EUR][1000 genomes]
rs35193500	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4135065	1.00[AFR][1000 genomes]
rs55780086	1.00[AFR][1000 genomes]
rs55919036	0.97[EUR][1000 genomes]
rs728167	0.97[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	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104218400-104233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:104225000-104233600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:104227800-104233800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:104228200-104233400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:104228200-104233800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:104229000-104233800	Weak transcription	Esophagus	oesophagus
7	chr12:104229200-104233800	Weak transcription	Spleen	Spleen
8	chr12:104229400-104233400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:104229400-104233600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:104230200-104233400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:104231800-104235400	Active TSS	Stomach Smooth Muscle	stomach
12	chr12:104231800-104236000	Active TSS	Rectal Smooth Muscle	rectum
13	chr12:104232000-104233400	Enhancers	Duodenum Mucosa	Duodenum
14	chr12:104232000-104233600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:104232000-104233800	Enhancers	Adipose Nuclei	Adipose
16	chr12:104232000-104233800	Enhancers	Fetal Intestine Large	intestine
17	chr12:104232000-104236000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:104232200-104233400	Enhancers	Fetal Intestine Small	intestine
19	chr12:104232200-104233600	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr12:104232200-104235600	Active TSS	Aorta	Aorta
21	chr12:104232400-104234000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:104232400-104235800	Active TSS	Colon Smooth Muscle	Colon
23	chr12:104232600-104233600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:104232600-104233600	Weak transcription	NHLF	lung
25	chr12:104232600-104234000	Flanking Active TSS	HepG2	liver
26	chr12:104232600-104234200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr12:104232600-104234200	Flanking Active TSS	Liver	Liver
28	chr12:104232800-104233400	Enhancers	Fetal Brain Female	brain
29	chr12:104232800-104233600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:104232800-104233600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:104232800-104233600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:104232800-104233600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr12:104232800-104233800	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr12:104232800-104233800	Enhancers	Colonic Mucosa	Colon
35	chr12:104232800-104233800	Active TSS	Psoas Muscle	Psoas
36	chr12:104232800-104233800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:104232800-104234200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:104232800-104234200	Flanking Active TSS	NH-A	brain
39	chr12:104232800-104234400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:104232800-104235400	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr12:104233000-104233400	Weak transcription	Brain Angular Gyrus	brain
42	chr12:104233000-104233400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr12:104233000-104233400	Enhancers	GM12878-XiMat	blood
44	chr12:104233000-104233400	Active TSS	HMEC	breast
45	chr12:104233000-104233400	Active TSS	HSMM	muscle
46	chr12:104233000-104233400	Enhancers	NHDF-Ad	bronchial
47	chr12:104233000-104233400	Active TSS	Osteobl	bone
48	chr12:104233000-104233600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:104233000-104233600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:104233000-104233600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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