Variant report

Variant	rs11181568
Chromosome Location	chr12:42975498-42975499
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42975327..42977642-chr12:42981851..42983978,2	MCF-7	breast:
2	chr12:42973365..42976271-chr12:42976911..42978978,2	MCF-7	breast:
3	chr12:42975394..42979509-chr12:42980340..42982880,4	K562	blood:

Variant related genes	Relation type
ENSG00000139174	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10785351	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880320	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880322	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11181563	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11181570	0.88[EUR][1000 genomes]
rs11181571	0.88[EUR][1000 genomes]
rs11181575	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11837158	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12229911	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12370911	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1922758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958546	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42959400-42978600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:42960000-42976000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:42960400-42981400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:42963800-42977200	Weak transcription	HSMM	muscle
5	chr12:42963800-42978400	Weak transcription	NH-A	brain
6	chr12:42965600-42978600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:42966600-42976000	Enhancers	HUVEC	blood vessel
8	chr12:42967800-42979400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:42968000-42975600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:42968000-42978600	Weak transcription	Left Ventricle	heart
11	chr12:42968400-42975800	Weak transcription	Osteobl	bone
12	chr12:42968400-42976400	Weak transcription	Aorta	Aorta
13	chr12:42968400-42978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:42970000-42978600	Weak transcription	Right Ventricle	heart
15	chr12:42970200-42975800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:42970200-42978000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:42970400-42976000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:42970400-42979400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:42970600-42975600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:42970600-42978000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:42971000-42975800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:42971000-42981400	Weak transcription	Stomach Mucosa	stomach
23	chr12:42972200-42976400	Weak transcription	HSMMtube	muscle
24	chr12:42972400-42976400	Weak transcription	Adipose Nuclei	Adipose
25	chr12:42972400-42976800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:42973200-42979400	Weak transcription	Lung	lung
27	chr12:42973400-42976400	Weak transcription	Fetal Kidney	kidney
28	chr12:42974600-42976200	Enhancers	Fetal Heart	heart
29	chr12:42974800-42975800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:42975000-42981200	Enhancers	Fetal Stomach	stomach
31	chr12:42975200-42975600	Enhancers	Fetal Lung	lung
32	chr12:42975200-42975800	Enhancers	Fetal Muscle Leg	muscle

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