Variant report

Variant	rs17144893
Chromosome Location	chr5:118381216-118381217
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118378371..118379918-chr5:118381011..118383636,2	K562	blood:
2	chr5:118381033..118383489-chr5:118406092..118407964,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172869	Chromatin interaction
ENSG00000249494	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10071407	1.00[CHB][hapmap]
rs10519564	1.00[CHB][hapmap]
rs11959589	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12109156	1.00[CHB][hapmap]
rs12109252	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1448479	1.00[JPT][hapmap]
rs1510971	1.00[CHB][hapmap]
rs17144824	1.00[CHB][hapmap]
rs17144836	1.00[CHB][hapmap]
rs17144872	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17144877	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17144883	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17144885	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17309689	0.84[EUR][1000 genomes]
rs17381247	1.00[JPT][hapmap]
rs17440213	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2029036	1.00[JPT][hapmap]
rs2084460	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2217310	1.00[CHB][hapmap]
rs2377127	1.00[CHB][hapmap]
rs34671950	0.92[ASN][1000 genomes]
rs4392657	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4634381	1.00[CHB][hapmap]
rs4895184	1.00[JPT][hapmap]
rs55741500	1.00[ASN][1000 genomes]
rs55805551	1.00[ASN][1000 genomes]
rs56165240	0.83[EUR][1000 genomes]
rs56664193	1.00[ASN][1000 genomes]
rs6595170	0.87[EUR][1000 genomes]
rs6860946	1.00[CHB][hapmap]
rs6862297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6863802	1.00[CHB][hapmap]
rs6870923	1.00[CHB][hapmap]
rs6874399	1.00[CHB][hapmap]
rs6880144	1.00[CHB][hapmap]
rs72784039	0.82[ASN][1000 genomes]
rs7706037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710339	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7721907	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7723221	0.92[ASN][1000 genomes]
rs7724403	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7724753	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7734815	1.00[CHB][hapmap]
rs7737716	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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