Variant report

Variant	rs56040534
Chromosome Location	chr12:104304181-104304182
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104302164..104305303-chr12:104321451..104326533,4	MCF-7	breast:
2	chr12:104301059..104305002-chr12:104308299..104311769,5	K562	blood:
3	chr12:104303502..104306754-chr12:104308454..104311860,3	K562	blood:
4	chr12:104300006..104302952-chr12:104303475..104307204,4	K562	blood:

Variant related genes	Relation type
ENSG00000265072	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000214198	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10778306	0.82[ASN][1000 genomes]
rs11111845	0.82[ASN][1000 genomes]
rs12426161	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12427041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12582800	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17034880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17034911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17034914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17034946	1.00[AFR][1000 genomes]
rs17795947	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1882019	1.00[AFR][1000 genomes]
rs2576942	0.82[ASN][1000 genomes]
rs2722189	0.82[ASN][1000 genomes]
rs3751207	1.00[AFR][1000 genomes]
rs3751208	1.00[AFR][1000 genomes]
rs3829300	1.00[AFR][1000 genomes]
rs4135060	1.00[AFR][1000 genomes]
rs4135076	1.00[AFR][1000 genomes]
rs4135078	1.00[AFR][1000 genomes]
rs4135082	1.00[AFR][1000 genomes]
rs4135085	1.00[AFR][1000 genomes]
rs4135086	1.00[AFR][1000 genomes]
rs4135087	1.00[AFR][1000 genomes]
rs4135094	1.00[AFR][1000 genomes]
rs4135095	1.00[AFR][1000 genomes]
rs55919036	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59879726	0.83[ASN][1000 genomes]
rs60534873	1.00[AFR][1000 genomes]
rs6615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs728167	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9788014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9788136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104301400-104304200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:104301400-104304200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:104301400-104304200	Enhancers	HMEC	breast
4	chr12:104301400-104304400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:104301400-104304400	Enhancers	HSMMtube	muscle
6	chr12:104302200-104304200	Enhancers	HSMM	muscle
7	chr12:104302200-104304200	Enhancers	Osteobl	bone
8	chr12:104302200-104304400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:104302400-104304200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:104302400-104304200	Enhancers	NHEK	skin
11	chr12:104302800-104306000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:104303000-104305600	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:104303600-104304200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:104303600-104304200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:104303800-104304400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:104304000-104304200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:104304000-104304200	Enhancers	Aorta	Aorta
18	chr12:104304000-104304200	Enhancers	Thymus	Thymus
19	chr12:104304000-104304200	Enhancers	NHLF	lung
20	chr12:104304000-104304400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:104304000-104306000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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