Variant report

Variant	rs1995652
Chromosome Location	chr16:76479220-76479221
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10871322	0.83[CEU][hapmap];0.93[JPT][hapmap]
rs11149897	0.94[JPT][hapmap]
rs11149898	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11149900	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11149901	0.96[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12149428	0.83[CEU][hapmap];0.94[JPT][hapmap]
rs12149429	0.93[JPT][hapmap]
rs12716811	0.82[ASN][1000 genomes]
rs12934194	0.93[JPT][hapmap]
rs13333507	0.87[JPT][hapmap]
rs1395484	0.82[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs1506819	0.87[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1506833	0.93[JPT][hapmap]
rs1506834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506835	1.00[CEU][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap]
rs1813535	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1876273	0.89[ASN][1000 genomes]
rs1995653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3947083	0.83[CEU][hapmap]
rs4243115	0.83[CEU][hapmap];0.94[JPT][hapmap]
rs4243117	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs4261575	0.93[JPT][hapmap]
rs4390622	0.93[JPT][hapmap]
rs4433831	0.95[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4620993	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4887857	0.89[ASN][1000 genomes]
rs4888497	0.93[JPT][hapmap]
rs4888501	0.94[JPT][hapmap]
rs4888504	0.95[CEU][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7185155	0.94[JPT][hapmap]
rs7185647	0.87[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs7189200	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs7191599	0.93[JPT][hapmap]
rs7192076	0.87[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs7203921	0.93[JPT][hapmap]
rs7206342	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs7499417	0.93[JPT][hapmap]
rs8043542	0.93[JPT][hapmap]
rs968537	0.93[JPT][hapmap]
rs981231	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs9921993	1.00[JPT][hapmap]
rs9931531	0.93[JPT][hapmap]
rs9932045	0.94[JPT][hapmap]
rs9938200	0.89[ASN][1000 genomes]
rs9940338	0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059162	chr16:75929348-76730816	Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv572995	chr16:75935025-76708417	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv572996	chr16:75935025-76735249	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv817220	chr16:75939705-76735383	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1056021	chr16:75955522-76729765	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv542962	chr16:75955522-76729765	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv906936	chr16:76031737-76768178	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv817549	chr16:76067068-76582099	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv869200	chr16:76227867-76695732	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv906943	chr16:76413757-76768178	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1063069	chr16:76462850-77214064	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
12	nsv542963	chr16:76462850-77214064	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76479000-76479400	Enhancers	Brain Anterior Caudate	brain
2	chr16:76479000-76479400	Enhancers	Fetal Intestine Large	intestine
3	chr16:76479000-76479400	Enhancers	Fetal Intestine Small	intestine

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