Variant report

Variant	rs1383016
Chromosome Location	chr3:140090936-140090937
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	chr3:140082092..140083700-chr3:140090829..140092486,2	K562	blood:
2	chr3:140083102..140085240-chr3:140088764..140091078,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1006877	0.88[CHB][hapmap]
rs1026773	1.00[CHB][hapmap];0.85[GIH][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1026774	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1026776	0.88[EUR][1000 genomes]
rs1026777	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1026778	0.81[CEU][hapmap];0.87[GIH][hapmap];0.88[EUR][1000 genomes]
rs1026779	0.87[EUR][1000 genomes]
rs11707077	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11714825	0.87[GIH][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11714842	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11715839	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717522	0.84[EUR][1000 genomes]
rs11719018	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11719055	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11719890	0.87[GIH][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13099847	0.83[GIH][hapmap];0.84[EUR][1000 genomes]
rs17345403	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs1871497	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs3947733	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs4410413	0.87[ASW][hapmap];0.83[GIH][hapmap];0.83[EUR][1000 genomes]
rs4642081	0.83[GIH][hapmap];0.83[EUR][1000 genomes]
rs4683488	0.84[EUR][1000 genomes]
rs6414346	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs6766541	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs6770286	0.87[GIH][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6770610	0.87[GIH][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6777920	0.82[GIH][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6789020	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6790930	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6794692	0.87[GIH][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6794805	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6795544	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6795632	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6810326	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7618673	0.83[GIH][hapmap];0.84[EUR][1000 genomes]
rs7623769	0.87[EUR][1000 genomes]
rs7630996	0.88[CHB][hapmap]
rs899622	0.83[GIH][hapmap];0.84[EUR][1000 genomes]
rs9289603	0.88[CHB][hapmap]
rs9813628	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9814193	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9817769	0.83[EUR][1000 genomes]
rs9832534	0.88[CHB][hapmap]
rs9837886	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9838521	1.00[CHB][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9874598	0.85[GIH][hapmap];0.82[LWK][hapmap];0.82[MEX][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757891	chr3:139925764-140524730	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759181	chr3:139925764-140524730	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv829740	chr3:139925767-140106169	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv527831	chr3:139932966-140533823	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv460867	chr3:140007294-140180563	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv591861	chr3:140007294-140180563	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv34489	chr3:140009020-140469302	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv2757012	chr3:140009220-140460228	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv818169	chr3:140014763-140182046	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1001430	chr3:140016999-140186498	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv998953	chr3:140017168-140186984	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv536731	chr3:140017168-140186984	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv829741	chr3:140021063-140183294	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1004500	chr3:140021594-140189148	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr3:140085600-140097200	Weak transcription	HSMMtube	muscle
2	chr3:140087600-140104600	Weak transcription	Brain Angular Gyrus	brain
3	chr3:140090000-140105400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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