Variant report

Variant	rs6581953
Chromosome Location	chr12:41179573-41179574
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10748157	0.84[EUR][1000 genomes]
rs10784865	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12424306	0.84[EUR][1000 genomes]
rs12424317	0.84[EUR][1000 genomes]
rs12424430	0.84[EUR][1000 genomes]
rs12425583	0.84[EUR][1000 genomes]
rs12425943	0.84[EUR][1000 genomes]
rs12425979	0.84[EUR][1000 genomes]
rs12426873	0.84[EUR][1000 genomes]
rs17128772	0.84[EUR][1000 genomes]
rs17128788	0.84[EUR][1000 genomes]
rs1899828	0.84[EUR][1000 genomes]
rs28445457	0.84[EUR][1000 genomes]
rs4768308	0.84[EUR][1000 genomes]
rs56162468	0.80[EUR][1000 genomes]
rs6581954	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6581959	0.81[AMR][1000 genomes]
rs7135780	0.80[EUR][1000 genomes]
rs7136811	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7302057	0.80[EUR][1000 genomes]
rs7304374	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7314908	0.84[EUR][1000 genomes]
rs7315792	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7315920	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7979550	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	nsv469362	chr12:41155000-41206520	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv558697	chr12:41155000-41206520	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv469363	chr12:41155000-41214848	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	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:7 , 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	chr12:41172800-41182000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:41175600-41201800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:41177600-41182000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:41178600-41179800	Weak transcription	Aorta	Aorta
6	chr12:41178600-41186800	Weak transcription	Ovary	ovary
7	chr12:41179200-41182000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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