Variant report

Variant	rs2042427
Chromosome Location	chr16:82227778-82227779
allele	C/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	GATA3	chr16:82227645-82228047	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82217922..82219781-chr16:82227767..82229767,2	K562	blood:

Variant related genes	Relation type
RN7SKP190	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11862388	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1364288	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1424152	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1424158	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16956683	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1979649	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1979650	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1979652	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1979653	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2042425	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2042426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911410	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2911411	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2911413	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2911416	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2932814	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2932817	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2932818	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2932836	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2932837	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2932839	0.80[CHB][hapmap];0.84[AMR][1000 genomes]
rs2932840	0.86[AMR][1000 genomes]
rs2967338	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2967339	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2967340	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2967341	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2967345	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2967346	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2967347	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2967348	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2967388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2967391	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2967393	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2967394	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2967395	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2967398	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2967399	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2967410	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34629110	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4516225	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57676882	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66765750	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs67779658	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs71388379	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7192520	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7500585	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7500862	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8049396	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs902542	0.89[CHB][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs902543	0.84[AMR][1000 genomes]
rs929892	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9708960	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9745812	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9932036	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9940988	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9941073	0.83[AMR][1000 genomes];0.83[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:10 , 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	chr16:82226600-82228200	Weak transcription	Fetal Kidney	kidney
4	chr16:82227400-82228800	Weak transcription	HUVEC	blood vessel
5	chr16:82227400-82229600	Weak transcription	HMEC	breast
6	chr16:82227400-82230600	Weak transcription	NHEK	skin
7	chr16:82227400-82231200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:82227400-82231600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr16:82227600-82229600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr16:82227600-82230800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links