Variant report

Variant	rs7135780
Chromosome Location	chr12:41182929-41182930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10748157	0.96[AFR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10784865	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12423720	1.00[ASN][1000 genomes]
rs12424306	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12424317	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12424430	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12425583	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12425943	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12425979	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12426873	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17128772	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17128788	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1899828	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28445457	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768308	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56162468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581953	0.80[EUR][1000 genomes]
rs6581954	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6581959	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581962	0.85[AFR][1000 genomes]
rs6581963	0.85[AFR][1000 genomes]
rs7136811	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301253	0.90[ASN][1000 genomes]
rs7302057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304374	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7314908	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7315033	0.81[AFR][1000 genomes]
rs7315792	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7315920	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[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	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
8	esv3423420	chr12:41182110-41184658	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv3442223	chr12:41182460-41184508	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
10	esv2498446	chr12:41182656-41184236	Weak transcription Enhancers	n/a	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	chr12:41182000-41184200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:41182400-41183800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:41182400-41184800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:41182400-41186800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:41182600-41183800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:41182600-41184800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:41182600-41186600	Weak transcription	Fetal Lung	lung
11	chr12:41182600-41187000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:41182600-41187000	Weak transcription	A549	lung
13	chr12:41182800-41183800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:41182800-41185000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:41182800-41185000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:41182800-41185600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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