Variant report

Variant	rs57196504
Chromosome Location	chr5:96409265-96409266
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10059209	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948888	0.87[ASN][1000 genomes]
rs17630580	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4333338	0.87[ASN][1000 genomes]
rs56295110	1.00[ASN][1000 genomes]
rs57204547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57608661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57806518	0.88[ASN][1000 genomes]
rs58477147	0.87[ASN][1000 genomes]
rs59041418	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59152856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59781414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59898871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60218205	0.87[ASN][1000 genomes]
rs60510178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865929	1.00[ASN][1000 genomes]
rs6867338	0.87[ASN][1000 genomes]
rs6884540	1.00[ASN][1000 genomes]
rs6887763	1.00[ASN][1000 genomes]
rs6888479	1.00[ASN][1000 genomes]
rs73141192	0.91[ASN][1000 genomes]
rs73141197	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs769336	0.93[ASN][1000 genomes]
rs769338	0.93[ASN][1000 genomes]
rs7702914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723473	1.00[ASN][1000 genomes]
rs7737538	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv4924	chr5:96391451-96437233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96403400-96411200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:96405800-96409400	Enhancers	Fetal Muscle Leg	muscle
3	chr5:96408400-96409400	Enhancers	Fetal Muscle Trunk	muscle
4	chr5:96409000-96410800	Flanking Active TSS	Primary B cells from peripheral blood	blood
5	chr5:96409200-96409400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:96409200-96409600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:96409200-96410400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr5:96409200-96410800	Enhancers	Primary neutrophils fromperipheralblood	blood

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