Variant report

Variant	rs6973663
Chromosome Location	chr7:119665510-119665511
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	chr7:119664746..119667649-chr7:119667923..119670710,3	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10239562	1.00[CEU][hapmap]
rs10240920	1.00[EUR][1000 genomes]
rs10270493	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10280627	1.00[ASN][1000 genomes]
rs10280758	1.00[ASN][1000 genomes]
rs17142463	1.00[EUR][1000 genomes]
rs17142497	1.00[ASN][1000 genomes]
rs1989217	1.00[ASN][1000 genomes]
rs2214705	0.83[ASN][1000 genomes]
rs4727907	1.00[EUR][1000 genomes]
rs4730950	1.00[EUR][1000 genomes]
rs55997859	0.83[ASN][1000 genomes]
rs57059935	0.83[ASN][1000 genomes]
rs57537501	1.00[EUR][1000 genomes]
rs58094128	1.00[EUR][1000 genomes]
rs58183333	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58192464	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58717470	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59032327	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59303341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59447974	0.83[ASN][1000 genomes]
rs59585910	0.83[ASN][1000 genomes]
rs59759080	1.00[EUR][1000 genomes]
rs60883005	0.83[ASN][1000 genomes]
rs61359667	1.00[EUR][1000 genomes]
rs61485753	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6466721	1.00[EUR][1000 genomes]
rs6466722	1.00[EUR][1000 genomes]
rs6466723	1.00[EUR][1000 genomes]
rs6466729	1.00[EUR][1000 genomes]
rs6951188	1.00[ASN][1000 genomes]
rs6952303	1.00[CEU][hapmap]
rs6953016	1.00[CEU][hapmap]
rs6959959	1.00[EUR][1000 genomes]
rs6962109	0.83[ASN][1000 genomes]
rs6963042	1.00[ASN][1000 genomes]
rs6966039	1.00[EUR][1000 genomes]
rs6967778	0.83[ASN][1000 genomes]
rs6975320	1.00[ASN][1000 genomes]
rs6977157	1.00[EUR][1000 genomes]
rs6977248	1.00[EUR][1000 genomes]
rs6979383	0.83[ASN][1000 genomes]
rs6979384	0.83[ASN][1000 genomes]
rs6980033	1.00[EUR][1000 genomes]
rs6980091	0.83[ASN][1000 genomes]
rs6980267	0.83[ASN][1000 genomes]
rs6980402	0.83[ASN][1000 genomes]
rs73423841	0.83[ASN][1000 genomes]
rs73423843	0.83[ASN][1000 genomes]
rs73423854	0.83[ASN][1000 genomes]
rs73431712	0.83[ASN][1000 genomes]
rs73431725	1.00[EUR][1000 genomes]
rs73431755	1.00[ASN][1000 genomes]
rs73431758	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73431761	1.00[ASN][1000 genomes]
rs73431762	1.00[ASN][1000 genomes]
rs73431766	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73431767	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73431773	1.00[ASN][1000 genomes]
rs73431782	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73431793	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73433665	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73433666	0.83[ASN][1000 genomes]
rs73441608	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73441610	0.83[ASN][1000 genomes]
rs73441658	0.83[ASN][1000 genomes]
rs73441659	0.83[ASN][1000 genomes]
rs73441660	0.83[ASN][1000 genomes]
rs73721058	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7778262	1.00[EUR][1000 genomes]
rs7778510	1.00[EUR][1000 genomes]
rs7785001	0.83[ASN][1000 genomes]
rs7791026	1.00[EUR][1000 genomes]
rs7799093	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7805422	0.83[ASN][1000 genomes]
rs7805993	0.83[ASN][1000 genomes]
rs7810567	1.00[EUR][1000 genomes]
rs7810590	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119656400-119668400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:119661800-119668600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:119664200-119667800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:119664600-119667800	Weak transcription	NHLF	lung

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