Variant report

Variant	rs12423720
Chromosome Location	chr12:41186367-41186368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10748157	0.97[ASN][1000 genomes]
rs10784865	0.97[ASN][1000 genomes]
rs12424306	0.97[ASN][1000 genomes]
rs12424317	0.97[ASN][1000 genomes]
rs12424430	0.97[ASN][1000 genomes]
rs12425583	0.97[ASN][1000 genomes]
rs12425943	0.97[ASN][1000 genomes]
rs12425979	0.97[ASN][1000 genomes]
rs12426873	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17128772	0.92[ASN][1000 genomes]
rs17128788	0.97[ASN][1000 genomes]
rs17541537	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17541655	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1899828	0.97[ASN][1000 genomes]
rs28445457	0.97[ASN][1000 genomes]
rs4768308	0.97[ASN][1000 genomes]
rs56162468	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6581954	0.97[ASN][1000 genomes]
rs6581959	1.00[ASN][1000 genomes]
rs7135780	1.00[ASN][1000 genomes]
rs7136811	1.00[ASN][1000 genomes]
rs7301253	0.90[ASN][1000 genomes]
rs7302057	1.00[ASN][1000 genomes]
rs7304374	0.97[ASN][1000 genomes]
rs7314908	0.97[ASN][1000 genomes]
rs7315792	0.97[ASN][1000 genomes]
rs7315920	0.95[ASN][1000 genomes]
rs961298	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832379	chr12:41054440-41232749	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv469362	chr12:41155000-41206520	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv558697	chr12:41155000-41206520	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv469363	chr12:41155000-41214848	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv558698	chr12:41155000-41214848	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41146200-41187400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:41175600-41201800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:41178600-41186800	Weak transcription	Ovary	ovary
4	chr12:41182400-41186800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:41182600-41186600	Weak transcription	Fetal Lung	lung
6	chr12:41182600-41187000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:41182600-41187000	Weak transcription	A549	lung
8	chr12:41184200-41186800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:41184800-41186800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:41184800-41188000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:41185000-41186800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:41185000-41188600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:41185600-41186600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr12:41186000-41186800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:41186000-41189000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:41186200-41189000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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