Variant report

Variant	rs16950997
Chromosome Location	chr16:79707630-79707631
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr16:79707556-79707977	K562	blood:	n/a	n/a
2	GATA1	chr16:79706936-79708209	K562	blood:	n/a	chr16:79707901-79707922 chr16:79707908-79707915 chr16:79707908-79707915 chr16:79707878-79707886 chr16:79707908-79707915
3	CEBPB	chr16:79707573-79707966	K562	blood:	n/a	chr16:79707762-79707773 chr16:79707761-79707774
4	CEBPB	chr16:79707575-79707879	K562	blood:	n/a	chr16:79707762-79707773 chr16:79707761-79707774
5	RCOR1	chr16:79707576-79707966	K562	blood:	n/a	n/a
6	CEBPD	chr16:79707578-79707893	K562	blood:	n/a	n/a
7	CEBPB	chr16:79707558-79707949	K562	blood:	n/a	chr16:79707762-79707773 chr16:79707761-79707774
8	MAFK	chr16:79707629-79707908	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:79695985..79698170-chr16:79706715..79709416,2	MCF-7	breast:
2	chr16:79705318..79707660-chr16:79710041..79712245,2	K562	blood:
3	chr16:79703972..79705683-chr16:79707454..79709935,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221330	TF binding region
ENSG00000260876	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11150187	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11150188	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11150189	0.90[EUR][1000 genomes]
rs11150190	0.92[EUR][1000 genomes]
rs11150191	0.89[EUR][1000 genomes]
rs11644082	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11644758	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11644799	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11644836	0.91[EUR][1000 genomes]
rs11645076	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11646791	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11864901	0.89[EUR][1000 genomes]
rs12149234	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12444166	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12449109	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12449161	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345901	0.85[EUR][1000 genomes]
rs1424231	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16950982	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17689024	0.83[EUR][1000 genomes]
rs17689159	0.83[EUR][1000 genomes]
rs17689455	0.82[EUR][1000 genomes]
rs17689625	0.81[EUR][1000 genomes]
rs17767383	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs17767419	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs17767491	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs17767742	0.81[EUR][1000 genomes]
rs17767904	0.81[EUR][1000 genomes]
rs28773265	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3813580	0.81[EUR][1000 genomes]
rs3813582	0.81[EUR][1000 genomes]
rs4243177	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4490016	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4888043	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4889009	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4889012	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4889014	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4889015	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56738967	0.83[EUR][1000 genomes]
rs56892402	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57652769	0.80[EUR][1000 genomes]
rs58722186	0.81[EUR][1000 genomes]
rs59617251	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6564688	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7187128	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188445	0.88[EUR][1000 genomes]
rs7190187	0.88[EUR][1000 genomes]
rs7195321	0.88[EUR][1000 genomes]
rs7200841	0.84[EUR][1000 genomes]
rs7202240	0.82[EUR][1000 genomes]
rs7202770	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7203756	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs73575076	0.82[EUR][1000 genomes]
rs73575079	0.82[EUR][1000 genomes]
rs73575083	0.81[EUR][1000 genomes]
rs73575085	0.81[EUR][1000 genomes]
rs73575086	0.81[EUR][1000 genomes]
rs73575095	0.81[EUR][1000 genomes]
rs74037508	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74037509	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7500666	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8047723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8048539	0.89[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8048928	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8053589	0.90[EUR][1000 genomes]
rs9927134	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv833295	chr16:79568878-79726768	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv906992	chr16:79649394-79769790	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	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
5	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16950997	RP11-345M22.2	cis	Skin Sun Exposed Lower leg	GTEx
rs16950997	RP11-345M22.2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79704200-79712000	Weak transcription	NHEK	skin
2	chr16:79706400-79708800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:79707000-79708200	Enhancers	Fetal Lung	lung
4	chr16:79707200-79708200	Weak transcription	Aorta	Aorta
5	chr16:79707200-79708600	Enhancers	HSMMtube	muscle
6	chr16:79707200-79708800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:79707400-79707800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:79707600-79708400	Enhancers	Ovary	ovary

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