Variant report

Variant	rs2167067
Chromosome Location	chr12:122310511-122310512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122286525..122288860-chr12:122308921..122310625,2	MCF-7	breast:
2	chr12:122306240..122308217-chr12:122309790..122311950,3	K562	blood:
3	chr12:122236290..122239048-chr12:122309511..122311286,2	K562	blood:

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000158104	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10840622	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10840624	0.91[EUR][1000 genomes]
rs10840630	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10840631	1.00[ASN][1000 genomes]
rs10840632	1.00[ASN][1000 genomes]
rs10840633	1.00[ASN][1000 genomes]
rs11043213	0.92[EUR][1000 genomes]
rs11043216	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11043217	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11043218	0.93[EUR][1000 genomes]
rs11043219	0.93[EUR][1000 genomes]
rs11043220	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11043221	0.91[AMR][1000 genomes]
rs11043223	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11043225	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043233	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11043243	0.95[AFR][1000 genomes]
rs11043244	1.00[ASN][1000 genomes]
rs11043246	1.00[ASN][1000 genomes]
rs11043251	1.00[ASN][1000 genomes]
rs11043271	1.00[ASN][1000 genomes]
rs11043278	1.00[ASN][1000 genomes]
rs11043280	1.00[ASN][1000 genomes]
rs11043288	1.00[ASN][1000 genomes]
rs1154514	1.00[ASN][1000 genomes]
rs11612028	1.00[ASN][1000 genomes]
rs1169070	1.00[ASN][1000 genomes]
rs1169071	1.00[ASN][1000 genomes]
rs12369331	1.00[ASN][1000 genomes]
rs12809676	1.00[ASN][1000 genomes]
rs12823194	1.00[ASN][1000 genomes]
rs12824593	1.00[ASN][1000 genomes]
rs12825161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1720033	1.00[ASN][1000 genomes]
rs1720037	1.00[ASN][1000 genomes]
rs34159444	1.00[ASN][1000 genomes]
rs34906460	1.00[ASN][1000 genomes]
rs35599566	0.89[EUR][1000 genomes]
rs35633723	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35892692	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6486780	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66611928	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66751701	1.00[ASN][1000 genomes]
rs68055743	0.91[EUR][1000 genomes]
rs7132055	1.00[ASN][1000 genomes]
rs7969671	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9739381	1.00[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2167067	HPD	cis	Muscle Skeletal	GTEx
rs2167067	RP11-7M8.2	cis	Muscle Skeletal	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122300200-122310800	Weak transcription	Placenta	Placenta
2	chr12:122301600-122312800	Weak transcription	Liver	Liver
3	chr12:122301600-122312800	Weak transcription	HepG2	liver
4	chr12:122304800-122310800	Weak transcription	NHDF-Ad	bronchial
5	chr12:122305400-122310600	Weak transcription	Fetal Brain Male	brain
6	chr12:122306200-122311000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:122306600-122310800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:122308800-122311000	Enhancers	K562	blood
9	chr12:122309400-122312200	Enhancers	Fetal Stomach	stomach
10	chr12:122310200-122311000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:122310200-122311200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:122310200-122311400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:122310200-122311400	Enhancers	NHLF	lung
14	chr12:122310200-122311400	Enhancers	Osteobl	bone
15	chr12:122310400-122310600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:122310400-122310600	Enhancers	Ovary	ovary
17	chr12:122310400-122310600	Active TSS	Stomach Smooth Muscle	stomach
18	chr12:122310400-122310800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:122310400-122310800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:122310400-122310800	Enhancers	Brain Hippocampus Middle	brain
21	chr12:122310400-122310800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr12:122310400-122311000	Enhancers	Brain Angular Gyrus	brain
23	chr12:122310400-122311000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr12:122310400-122311000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:122310400-122311200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:122310400-122311200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:122310400-122311200	Enhancers	NHEK	skin
28	chr12:122310400-122311400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:122310400-122311400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:122310400-122311400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:122310400-122311400	Enhancers	Colon Smooth Muscle	Colon
32	chr12:122310400-122311400	Enhancers	Fetal Muscle Trunk	muscle
33	chr12:122310400-122311400	Enhancers	Fetal Muscle Leg	muscle
34	chr12:122310400-122311400	Enhancers	HMEC	breast
35	chr12:122310400-122311400	Enhancers	NH-A	brain

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