Variant report

Variant	rs57917996
Chromosome Location	chr7:119685715-119685716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:119685611..119688209-chr7:119717073..119719520,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10085539	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240920	1.00[ASN][1000 genomes]
rs10270493	1.00[ASN][1000 genomes]
rs10271592	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10280627	1.00[EUR][1000 genomes]
rs10280758	1.00[EUR][1000 genomes]
rs17142497	1.00[EUR][1000 genomes]
rs17142502	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989217	0.96[EUR][1000 genomes]
rs2214705	1.00[EUR][1000 genomes]
rs4727907	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55997859	1.00[EUR][1000 genomes]
rs57059935	1.00[EUR][1000 genomes]
rs57537501	1.00[ASN][1000 genomes]
rs58149790	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58183333	1.00[EUR][1000 genomes]
rs58192464	1.00[EUR][1000 genomes]
rs58717470	1.00[EUR][1000 genomes]
rs59447974	1.00[EUR][1000 genomes]
rs59585910	1.00[EUR][1000 genomes]
rs59759080	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60883005	1.00[EUR][1000 genomes]
rs61485753	1.00[EUR][1000 genomes]
rs61608442	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6951188	1.00[EUR][1000 genomes]
rs6962109	1.00[EUR][1000 genomes]
rs6963042	1.00[EUR][1000 genomes]
rs6966559	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6967778	1.00[EUR][1000 genomes]
rs6975320	1.00[EUR][1000 genomes]
rs6979258	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979383	0.96[EUR][1000 genomes]
rs6979384	0.96[EUR][1000 genomes]
rs6980091	1.00[EUR][1000 genomes]
rs6980267	1.00[EUR][1000 genomes]
rs6980402	1.00[EUR][1000 genomes]
rs73423841	1.00[EUR][1000 genomes]
rs73423843	1.00[EUR][1000 genomes]
rs73423854	0.91[EUR][1000 genomes]
rs73431725	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73431755	1.00[EUR][1000 genomes]
rs73431761	1.00[EUR][1000 genomes]
rs73431762	1.00[EUR][1000 genomes]
rs73431766	1.00[EUR][1000 genomes]
rs73431767	1.00[EUR][1000 genomes]
rs73431773	1.00[EUR][1000 genomes]
rs73431778	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73431782	0.88[EUR][1000 genomes]
rs73431793	1.00[EUR][1000 genomes]
rs73431796	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433665	1.00[EUR][1000 genomes]
rs73433666	1.00[EUR][1000 genomes]
rs73441608	1.00[EUR][1000 genomes]
rs73441610	1.00[EUR][1000 genomes]
rs73441658	1.00[EUR][1000 genomes]
rs73441659	1.00[EUR][1000 genomes]
rs73441660	1.00[EUR][1000 genomes]
rs73721050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73721058	1.00[EUR][1000 genomes]
rs73721068	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782307	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7785001	1.00[EUR][1000 genomes]
rs7795185	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799093	1.00[EUR][1000 genomes]
rs7805422	1.00[EUR][1000 genomes]
rs7805993	1.00[EUR][1000 genomes]
rs9655832	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656274	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	nsv470388	chr7:119464310-119790102	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2753623	chr7:119532049-119770049	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv831112	chr7:119585169-119776619	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1024054	chr7:119638121-119700508	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv831113	chr7:119683515-119886277	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119685000-119686400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:119685000-119686800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:119685000-119686800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:119685200-119686400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:119685200-119686600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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