Variant report

Variant	rs7799906
Chromosome Location	chr7:125263724-125263725
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:125251686..125253446-chr7:125261235..125263882,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10155905	0.93[ASN][1000 genomes]
rs10156045	0.94[ASN][1000 genomes]
rs10226528	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10227132	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10273027	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1157325	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11982831	0.85[EUR][1000 genomes]
rs12531592	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12539241	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12690985	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12706670	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12706671	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12706675	0.91[ASN][1000 genomes]
rs1345236	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1419699	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1419707	0.88[ASN][1000 genomes]
rs1419708	0.91[ASN][1000 genomes]
rs1541387	0.91[ASN][1000 genomes]
rs1579223	0.91[EUR][1000 genomes]
rs1579224	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1579225	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1579226	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2051814	0.91[ASN][1000 genomes]
rs2107252	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2402782	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2402783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4634578	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4728026	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs492585	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs521023	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs524630	0.94[ASN][1000 genomes]
rs62479892	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62479897	0.95[ASN][1000 genomes]
rs62479898	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62479900	0.95[ASN][1000 genomes]
rs6467020	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6467021	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs679710	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6957945	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6958258	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6962819	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7780182	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7781657	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7785560	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7785979	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7790718	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs792160	0.81[ASN][1000 genomes]
rs9791472	0.91[ASN][1000 genomes]
rs983850	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761087	chr7:124823624-125429662	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1028369	chr7:124967804-125508233	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv948720	chr7:124970772-125783434	Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1018428	chr7:125044642-125730775	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1028636	chr7:125073718-125406148	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv539112	chr7:125073718-125406148	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1034113	chr7:125099740-125412688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1027318	chr7:125164599-125317502	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv539113	chr7:125164599-125317502	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv529134	chr7:125178203-125571449	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv464710	chr7:125196970-125287479	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv608347	chr7:125196970-125287479	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv889150	chr7:125232034-125716635	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv889151	chr7:125246542-125358505	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv889152	chr7:125246542-125370694	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv889153	chr7:125246542-125521995	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1018799	chr7:125262762-125384885	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125263200-125264000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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