Variant report

Variant	rs6999617
Chromosome Location	chr8:112051510-112051511
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:112046473..112049277-chr8:112050883..112054393,4	K562	blood:
2	chr8:112044268..112046186-chr8:112050654..112052583,2	K562	blood:
3	chr8:112050824..112052774-chr8:112058514..112060198,2	K562	blood:
4	chr8:112040792..112044019-chr8:112049363..112052232,3	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10086493	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10089865	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10096553	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10101957	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10102552	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10106508	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10106880	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10107556	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10107897	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10109355	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10111478	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10217003	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10505160	0.82[EUR][1000 genomes]
rs10808444	0.82[EUR][1000 genomes]
rs10955559	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10955562	0.82[EUR][1000 genomes]
rs10955563	0.82[EUR][1000 genomes]
rs10955564	0.82[EUR][1000 genomes]
rs10955565	0.82[EUR][1000 genomes]
rs10955566	0.82[EUR][1000 genomes]
rs10955567	0.82[EUR][1000 genomes]
rs10955568	0.82[EUR][1000 genomes]
rs11786026	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12544188	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12546516	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12681617	0.82[EUR][1000 genomes]
rs12681879	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1427168	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1529371	0.82[EUR][1000 genomes]
rs1529372	0.82[EUR][1000 genomes]
rs1593666	0.80[EUR][1000 genomes]
rs16892533	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1834736	0.86[ASN][1000 genomes]
rs1834737	0.83[ASN][1000 genomes]
rs1834738	0.83[ASN][1000 genomes]
rs1991362	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2033144	0.88[ASN][1000 genomes]
rs2081690	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2114555	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2195063	0.82[EUR][1000 genomes]
rs2351543	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2351548	0.82[EUR][1000 genomes]
rs28404327	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28694326	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3096724	0.94[ASN][1000 genomes]
rs3134525	0.95[ASN][1000 genomes]
rs4130017	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4515587	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4526392	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4876879	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs719232	0.82[EUR][1000 genomes]
rs7838962	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891294	chr8:111754075-112163801	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1030494	chr8:111779352-112421812	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2754849	chr8:111817591-112088992	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3418448	chr8:111834718-112112905	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv891295	chr8:111852200-112163801	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1028079	chr8:111939568-112098196	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv891296	chr8:111952230-112191432	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv2762764	chr8:111973389-112160284	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv891297	chr8:111987798-112157540	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv611885	chr8:111987798-112163801	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv891298	chr8:111987798-112163801	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv891299	chr8:111987798-112164746	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv891300	chr8:111987798-112171822	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv891301	chr8:111987798-112191432	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv891302	chr8:111987798-112238390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv470227	chr8:112021629-112134438	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv891303	chr8:112021630-112157540	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv611886	chr8:112021630-112163801	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv891304	chr8:112021630-112163801	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv891305	chr8:112021630-112171822	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv891306	chr8:112021630-112238390	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv891307	chr8:112032097-112163801	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv1028695	chr8:112036331-112117490	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr8:112048600-112052600	Active TSS	K562	blood

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