Variant report

Variant	rs1830366
Chromosome Location	chr5:96591215-96591216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1000082	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1000083	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10068664	0.89[ASN][1000 genomes]
rs10463199	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10463202	0.82[EUR][1000 genomes]
rs10866776	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11135499	0.89[ASN][1000 genomes]
rs12657833	0.82[EUR][1000 genomes]
rs1406325	0.96[ASN][1000 genomes]
rs1406326	0.93[ASN][1000 genomes]
rs1423499	0.82[EUR][1000 genomes]
rs1528592	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1528594	0.96[ASN][1000 genomes]
rs1609326	0.93[ASN][1000 genomes]
rs1609327	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1812918	0.85[EUR][1000 genomes]
rs1830368	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs183410	0.89[ASN][1000 genomes]
rs1852739	0.93[ASN][1000 genomes]
rs1862592	0.96[ASN][1000 genomes]
rs1919244	0.96[ASN][1000 genomes]
rs1919245	0.96[ASN][1000 genomes]
rs1997296	0.96[ASN][1000 genomes]
rs2081139	0.96[ASN][1000 genomes]
rs2081140	0.96[ASN][1000 genomes]
rs2081142	0.96[ASN][1000 genomes]
rs2098708	0.82[EUR][1000 genomes]
rs2113018	0.82[EUR][1000 genomes]
rs2161571	0.82[EUR][1000 genomes]
rs2351504	0.89[ASN][1000 genomes]
rs2351505	0.85[EUR][1000 genomes]
rs2351506	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2548423	0.96[ASN][1000 genomes]
rs2643465	0.93[ASN][1000 genomes]
rs2643496	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2643503	0.93[ASN][1000 genomes]
rs2643577	0.93[ASN][1000 genomes]
rs2697598	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2697637	0.93[ASN][1000 genomes]
rs2882680	0.82[EUR][1000 genomes]
rs3108540	0.89[ASN][1000 genomes]
rs317110	0.82[EUR][1000 genomes]
rs317112	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4626360	0.82[EUR][1000 genomes]
rs4869152	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4869153	0.96[ASN][1000 genomes]
rs4869156	0.96[ASN][1000 genomes]
rs56773447	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6556953	0.93[ASN][1000 genomes]
rs6874040	0.96[ASN][1000 genomes]
rs6899065	0.96[ASN][1000 genomes]
rs7723203	0.96[ASN][1000 genomes]
rs9314193	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9686259	0.96[ASN][1000 genomes]
rs9687077	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs972717	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS 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	24 gene(s)	inside rSNPs	diseases
5	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv534326	chr5:96531217-97283481	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv882394	chr5:96538585-97108559	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1032548	chr5:96565121-97046804	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv537813	chr5:96565121-97046804	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96584200-96591400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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