Variant report

Variant	rs12424317
Chromosome Location	chr12:41163289-41163290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41162174..41163889-chr12:41167656..41170084,3	K562	blood:
2	chr12:41151197..41153698-chr12:41160986..41163331,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10748157	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10784865	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423720	0.97[ASN][1000 genomes]
rs12424306	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424430	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425583	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425943	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425979	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426873	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128772	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17128788	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1899828	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28445457	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768308	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56162468	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6581953	0.84[EUR][1000 genomes]
rs6581954	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581959	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7135780	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7136811	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7301253	0.93[ASN][1000 genomes]
rs7302057	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7304374	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315792	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315920	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv2751098	chr12:41082399-41180235	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1044513	chr12:41091822-41175151	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv558696	chr12:41092666-41172010	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	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
7	nsv469362	chr12:41155000-41206520	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv558697	chr12:41155000-41206520	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv469363	chr12:41155000-41214848	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	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:3 , 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	chr12:41162200-41165000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:41163000-41163400	Enhancers	Pancreatic Islets	Pancreatic Islet

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