Variant report

Variant	rs246967
Chromosome Location	chr5:118896898-118896899
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118894936..118898702-chr5:118910373..118913198,3	K562	blood:
2	chr5:118894367..118897199-chr5:119080311..119081964,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs165995	0.88[AFR][1000 genomes]
rs2257900	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2257901	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2459726	0.84[EUR][1000 genomes]
rs246965	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2546210	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs257970	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs257971	0.85[ASN][1000 genomes]
rs26181	0.83[EUR][1000 genomes]
rs26184	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2636961	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2636962	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2636964	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2636968	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2678074	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2678076	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2678091	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs27938	0.83[EUR][1000 genomes]
rs2945327	0.83[ASN][1000 genomes]
rs32659	0.85[ASN][1000 genomes]
rs32662	0.85[ASN][1000 genomes]
rs32663	0.85[ASN][1000 genomes]
rs32664	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs32665	0.85[ASN][1000 genomes]
rs35235684	0.88[ASN][1000 genomes]
rs382719	0.85[EUR][1000 genomes]
rs3850202	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs39970	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs422297	0.85[EUR][1000 genomes]
rs460274	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs463098	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv882776	chr5:118859546-118915408	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv882777	chr5:118870452-118981480	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv965573	chr5:118891291-118904467	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	1 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	chr5:118891600-118899800	Weak transcription	Pancreas	Pancrea

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