Variant report

Variant	rs12426511
Chromosome Location	chr12:58090301-58090302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:58089950..58092612-chr12:58113203..58115184,2	MCF-7	breast:
2	chr12:58089791..58092749-chr12:58117567..58121637,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255737	Chromatin interaction
ENSG00000135506	Chromatin interaction
ENSG00000257499	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2269720	0.95[ASN][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	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
2	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
3	nsv508676	chr12:58045136-58098538	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
4	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12426511	METTL21B	cis	Esophagus Muscularis	GTEx
rs12426511	FAM119B	Cis_1M	lymphoblastoid	RTeQTL
rs12426511	TSFM	Cis_1M	lymphoblastoid	RTeQTL
rs12426511	METTL21B	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58088800-58090600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:58088800-58093400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:58088800-58097800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr12:58088800-58099400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:58088800-58099400	Weak transcription	Small Intestine	intestine
6	chr12:58089000-58090800	Weak transcription	NH-A	brain
7	chr12:58089000-58091000	Weak transcription	Aorta	Aorta
8	chr12:58089000-58091000	Weak transcription	Fetal Brain Male	brain
9	chr12:58089000-58092000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:58089000-58092200	Strong transcription	Rectal Smooth Muscle	rectum
11	chr12:58089000-58092800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:58089000-58092800	Strong transcription	Fetal Lung	lung
13	chr12:58089000-58092800	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:58089000-58094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:58089000-58094200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:58089000-58095800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:58089000-58097000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:58089000-58109400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:58089000-58110000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:58089200-58092400	Strong transcription	GM12878-XiMat	blood
21	chr12:58089200-58092400	Strong transcription	Osteobl	bone
22	chr12:58089200-58094400	Strong transcription	Primary B cells from cord blood	blood
23	chr12:58089200-58094400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr12:58089200-58094600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:58089200-58096800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:58089200-58097200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr12:58089200-58097200	Weak transcription	Stomach Mucosa	stomach
28	chr12:58089200-58097600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:58089200-58097600	Weak transcription	HMEC	breast
30	chr12:58089200-58103400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:58089200-58115400	Weak transcription	Fetal Heart	heart
32	chr12:58089400-58091000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:58089400-58091200	Strong transcription	Colonic Mucosa	Colon
34	chr12:58089400-58091400	Strong transcription	NHEK	skin
35	chr12:58089400-58092600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:58089400-58092600	Strong transcription	Brain Angular Gyrus	brain
37	chr12:58089400-58092600	Strong transcription	Lung	lung
38	chr12:58089400-58092800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr12:58089400-58092800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr12:58089400-58093000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:58089400-58093000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:58089400-58093000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:58089400-58093000	Strong transcription	Ovary	ovary
44	chr12:58089400-58093200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:58089400-58093200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:58089400-58093200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:58089400-58093200	Strong transcription	Fetal Thymus	thymus
48	chr12:58089400-58093400	Strong transcription	NHLF	lung
49	chr12:58089400-58093600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:58089400-58093600	Strong transcription	HSMM	muscle

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