Variant report

Variant	rs1808427
Chromosome Location	chr16:75241394-75241395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75239816..75243837-chr16:75256696..75260507,7	MCF-7	breast:
2	chr16:75239080..75244320-chr16:75282735..75286046,5	K562	blood:

Variant related genes	Relation type
ENSG00000240338	Chromatin interaction
ENSG00000050820	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1019539	0.85[CEU][hapmap]
rs1035540	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10871304	0.85[CEU][hapmap]
rs1107593	0.92[CEU][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11149811	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs11641896	0.87[EUR][1000 genomes]
rs12918452	0.89[EUR][1000 genomes]
rs12924999	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1862738	0.83[EUR][1000 genomes]
rs2870471	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs2870472	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3169330	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4479268	0.85[CEU][hapmap]
rs4737	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4888361	0.88[EUR][1000 genomes]
rs4888363	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs4888364	0.86[EUR][1000 genomes]
rs4888365	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6564221	0.85[CEU][hapmap]
rs6564239	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6564241	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6564243	0.87[EUR][1000 genomes]
rs7195938	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7202566	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8048371	0.87[EUR][1000 genomes]
rs8048956	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8057145	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8059190	0.86[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8061356	0.84[EUR][1000 genomes]
rs889514	0.83[EUR][1000 genomes]
rs889515	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9319481	0.84[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9927264	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9928842	1.00[AMR][1000 genomes];0.96[EUR][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	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75235400-75241800	Weak transcription	Fetal Muscle Leg	muscle
2	chr16:75240400-75241400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:75240400-75242200	Enhancers	Spleen	Spleen
4	chr16:75240400-75243200	Enhancers	HSMMtube	muscle
5	chr16:75240600-75241400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr16:75240800-75241800	Enhancers	Placenta	Placenta
7	chr16:75241000-75242000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:75241000-75242200	Weak transcription	HSMM	muscle
9	chr16:75241200-75243000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:75241200-75243400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr16:75241200-75245400	Enhancers	Pancreas	Pancrea
12	chr16:75241200-75248800	Weak transcription	Fetal Intestine Small	intestine

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