Variant report

Variant	rs57676882
Chromosome Location	chr16:82227059-82227060
allele	A/T
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	GATA2	chr16:82226137-82227345	HUVEC	blood vessel:	n/a	chr16:82227050-82227066 chr16:82227052-82227064 chr16:82227053-82227062
2	GATA3	chr16:82226526-82227215	T-47D	breast:	n/a	chr16:82227050-82227066 chr16:82227052-82227064 chr16:82227053-82227062
3	MAX	chr16:82226150-82227125	NB4	blood:	n/a	n/a
4	GATA3	chr16:82226570-82227221	T-47D	breast:	n/a	chr16:82227050-82227066 chr16:82227052-82227064 chr16:82227053-82227062

Variant related genes	Relation type
RN7SKP190	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10514534	0.82[AMR][1000 genomes]
rs11862388	0.85[ASN][1000 genomes]
rs1364288	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424152	0.88[ASN][1000 genomes]
rs1424153	0.85[AMR][1000 genomes]
rs1424158	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16956683	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1979649	0.85[ASN][1000 genomes]
rs1979650	0.85[ASN][1000 genomes]
rs1979652	0.85[ASN][1000 genomes]
rs1979653	0.85[ASN][1000 genomes]
rs2042426	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2042427	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2911410	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2911411	0.91[ASN][1000 genomes]
rs2911413	0.86[ASN][1000 genomes]
rs2911416	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2932814	0.85[ASN][1000 genomes]
rs2932817	0.85[ASN][1000 genomes]
rs2932818	0.85[ASN][1000 genomes]
rs2932835	0.91[AMR][1000 genomes]
rs2932836	0.85[ASN][1000 genomes]
rs2932837	0.85[ASN][1000 genomes]
rs2932841	0.88[AMR][1000 genomes]
rs2967338	0.85[ASN][1000 genomes]
rs2967339	0.85[ASN][1000 genomes]
rs2967340	0.83[ASN][1000 genomes]
rs2967341	0.82[ASN][1000 genomes]
rs2967345	0.85[ASN][1000 genomes]
rs2967346	0.85[ASN][1000 genomes]
rs2967347	0.85[ASN][1000 genomes]
rs2967348	0.85[ASN][1000 genomes]
rs2967388	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2967393	0.90[ASN][1000 genomes]
rs2967394	0.90[ASN][1000 genomes]
rs2967395	0.82[AMR][1000 genomes]
rs2967398	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2967399	0.80[AMR][1000 genomes]
rs2967410	0.87[ASN][1000 genomes]
rs34629110	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34652971	0.81[AMR][1000 genomes]
rs35268560	0.81[ASN][1000 genomes]
rs4516225	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61702998	0.83[AMR][1000 genomes]
rs66765750	0.87[ASN][1000 genomes]
rs67779658	0.86[ASN][1000 genomes]
rs71388379	0.85[ASN][1000 genomes]
rs7192520	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7500500	0.81[ASN][1000 genomes]
rs7500585	0.83[ASN][1000 genomes]
rs7500717	0.81[ASN][1000 genomes]
rs7500862	0.85[ASN][1000 genomes]
rs8049396	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs902542	0.85[ASN][1000 genomes]
rs929892	0.90[ASN][1000 genomes]
rs9635584	0.83[AMR][1000 genomes]
rs9635585	0.82[AMR][1000 genomes]
rs9708960	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9745812	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9932036	0.85[ASN][1000 genomes]
rs9940988	0.83[ASN][1000 genomes]
rs9941073	0.85[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	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv518129	chr16:82188173-82228076	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv833302	chr16:82188351-82363863	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1844598	chr16:82195234-82429790	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1847414	chr16:82195234-82429790	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv532600	chr16:82197554-82314289	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv907015	chr16:82203758-82284056	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1065896	chr16:82213517-82731994	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82223000-82231400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr16:82224800-82228800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr16:82225800-82227200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr16:82225800-82227400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:82225800-82227400	Enhancers	NHEK	skin
6	chr16:82226000-82227200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr16:82226000-82227200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr16:82226000-82227200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:82226000-82227200	Enhancers	Dnd41	blood
10	chr16:82226000-82227400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:82226000-82227400	Enhancers	HMEC	breast
12	chr16:82226000-82227400	Enhancers	HUVEC	blood vessel
13	chr16:82226000-82227400	Enhancers	NHDF-Ad	bronchial
14	chr16:82226000-82227600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:82226200-82227200	Enhancers	NHLF	lung
16	chr16:82226200-82227400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:82226200-82227600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:82226600-82228200	Weak transcription	Fetal Kidney	kidney
19	chr16:82227000-82227200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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