Variant report

Variant	rs7980955
Chromosome Location	chr12:59419828-59419829
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10506357	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10877200	1.00[ASN][1000 genomes]
rs10877203	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11172858	0.91[ASN][1000 genomes]
rs11172860	0.91[ASN][1000 genomes]
rs11172861	0.91[ASN][1000 genomes]
rs11172862	0.91[ASN][1000 genomes]
rs11172866	1.00[ASN][1000 genomes]
rs11172867	1.00[ASN][1000 genomes]
rs11172869	1.00[ASN][1000 genomes]
rs11172870	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11172873	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11172874	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172876	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11172878	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11172880	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11172881	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11172882	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11172888	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11172891	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11172898	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12367126	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12368035	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12368658	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12369750	1.00[ASN][1000 genomes]
rs12370707	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12371014	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12422372	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12425735	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1444099	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1444102	1.00[ASN][1000 genomes]
rs1568303	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17121828	1.00[ASN][1000 genomes]
rs17536893	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17537939	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17627506	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2120527	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55888651	1.00[ASN][1000 genomes]
rs57205785	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58692617	0.91[ASN][1000 genomes]
rs61919523	0.86[ASN][1000 genomes]
rs61919524	0.91[ASN][1000 genomes]
rs61919525	0.95[ASN][1000 genomes]
rs61919531	1.00[ASN][1000 genomes]
rs61919532	1.00[ASN][1000 genomes]
rs61919550	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61934309	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6581224	0.86[ASN][1000 genomes]
rs7303773	0.91[ASN][1000 genomes]
rs7309872	0.86[ASN][1000 genomes]
rs7314727	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs74091483	0.87[AFR][1000 genomes]
rs74091488	0.85[AFR][1000 genomes]
rs7960109	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7961788	0.83[AFR][1000 genomes]
rs7968111	0.91[ASN][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	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv559048	chr12:59336737-59440659	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv559049	chr12:59359937-59436179	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv526485	chr12:59412802-59422668	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv522058	chr12:59416727-59422668	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59408600-59420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:59417600-59430200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:59419200-59426400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:59419800-59420000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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