Variant report

Variant	rs12928764
Chromosome Location	chr16:79844989-79844990
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	chr16:79843555..79845161-chr16:79845946..79847875,2	MCF-7	breast:
2	chr16:79841040..79846419-chr16:79846922..79851463,5	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10871380	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11150199	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11150200	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11150201	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11150202	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11150203	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11150204	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11150205	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11150206	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11150207	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11150208	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11150209	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11150210	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11150211	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11150212	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11150213	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11150214	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11150215	0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11150216	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11150219	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11150220	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1134715	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11640405	0.96[ASN][1000 genomes]
rs11640419	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11642817	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11643810	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11648556	0.88[ASN][1000 genomes]
rs11648855	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11860693	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11862561	0.89[ASN][1000 genomes]
rs11862593	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11863874	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11866244	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12444097	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12444100	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12444123	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12446125	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12595956	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12597506	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12598926	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12600157	0.87[ASN][1000 genomes]
rs12919529	0.88[ASN][1000 genomes]
rs12920397	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12923698	0.88[ASN][1000 genomes]
rs12925344	0.88[ASN][1000 genomes]
rs12930441	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12931444	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12931584	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12934885	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13336602	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs3935177	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4243184	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4299168	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4392086	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4538028	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4584830	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4611477	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4636922	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4888047	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4888048	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4888049	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4888050	0.92[EUR][1000 genomes]
rs4889029	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4889030	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4889031	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4889032	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4889033	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4889034	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4889035	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6564706	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7187906	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7191989	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8043824	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8059641	0.93[ASN][1000 genomes]
rs9939031	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79843000-79847800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:79844000-79845200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr16:79844000-79846400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:79844200-79845000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr16:79844200-79845000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:79844200-79845200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr16:79844200-79845800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:79844200-79846400	Enhancers	HMEC	breast
9	chr16:79844400-79845000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr16:79844400-79845000	Weak transcription	Esophagus	oesophagus
11	chr16:79844400-79845400	Flanking Active TSS	NHEK	skin
12	chr16:79844600-79845000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr16:79844600-79845000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr16:79844800-79845200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:79844800-79845400	Enhancers	K562	blood
16	chr16:79844800-79846000	Enhancers	Fetal Lung	lung

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