Variant report

Variant	rs10248814
Chromosome Location	chr7:19611462-19611463
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	chr7:19610590..19613391-chr7:19614778..19616457,3	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1008704	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10228147	0.91[AFR][1000 genomes]
rs10229434	0.85[EUR][1000 genomes]
rs10230207	0.80[ASN][1000 genomes]
rs10230658	0.86[AMR][1000 genomes]
rs10242068	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10244808	0.86[AMR][1000 genomes]
rs10257211	0.88[AFR][1000 genomes]
rs10261496	0.91[AFR][1000 genomes]
rs10261834	0.91[AFR][1000 genomes]
rs10267686	0.95[AFR][1000 genomes]
rs10269875	0.86[AMR][1000 genomes]
rs10273311	0.91[AFR][1000 genomes]
rs10278135	0.86[AFR][1000 genomes]
rs1074858	0.91[AFR][1000 genomes]
rs10807794	0.97[AFR][1000 genomes]
rs11489333	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11505420	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11767221	0.97[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12535260	0.84[AMR][1000 genomes]
rs12537939	0.91[AFR][1000 genomes]
rs12538102	0.91[AFR][1000 genomes]
rs12700057	0.85[AMR][1000 genomes]
rs12700058	0.84[AMR][1000 genomes]
rs13246869	0.93[AFR][1000 genomes]
rs13437937	0.91[AFR][1000 genomes]
rs17354370	0.88[EUR][1000 genomes]
rs17354412	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1985774	0.81[AMR][1000 genomes]
rs1989540	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2052207	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2058422	0.91[AFR][1000 genomes]
rs2109873	0.90[AFR][1000 genomes]
rs2109874	0.90[AFR][1000 genomes]
rs2160095	0.88[AFR][1000 genomes]
rs2192476	0.97[AFR][1000 genomes]
rs2192477	0.91[AFR][1000 genomes]
rs2192482	0.87[AMR][1000 genomes]
rs2192484	0.86[AMR][1000 genomes]
rs2192485	0.86[AMR][1000 genomes]
rs2390142	0.91[AFR][1000 genomes]
rs2390143	0.91[AFR][1000 genomes]
rs28407069	0.91[AFR][1000 genomes]
rs28460797	0.86[EUR][1000 genomes]
rs4236296	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4337996	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4472416	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4472417	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4509205	0.88[AFR][1000 genomes]
rs4626493	0.91[AFR][1000 genomes]
rs4719571	0.86[EUR][1000 genomes]
rs4719572	0.86[EUR][1000 genomes]
rs4719573	0.86[EUR][1000 genomes]
rs4719574	0.91[AFR][1000 genomes]
rs4719575	0.91[AFR][1000 genomes]
rs4719576	0.91[AFR][1000 genomes]
rs4721783	0.90[AFR][1000 genomes]
rs4721784	0.91[AFR][1000 genomes]
rs4721791	0.88[AFR][1000 genomes]
rs4721792	0.91[AFR][1000 genomes]
rs4721793	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4721794	0.91[AFR][1000 genomes]
rs55636616	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55883028	0.97[EUR][1000 genomes]
rs56229068	0.95[EUR][1000 genomes]
rs62448110	0.97[EUR][1000 genomes]
rs6461445	0.91[AFR][1000 genomes]
rs6461446	0.91[AFR][1000 genomes]
rs6949428	0.86[EUR][1000 genomes]
rs6963439	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6965709	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6966112	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971829	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6972245	0.84[AMR][1000 genomes]
rs759248	0.86[AMR][1000 genomes]
rs7786622	0.91[AFR][1000 genomes]
rs7789868	0.87[AMR][1000 genomes]
rs7797567	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7797751	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7798205	0.91[AFR][1000 genomes]
rs7802880	0.91[AFR][1000 genomes]
rs7805790	0.91[AFR][1000 genomes]
rs917917	0.87[AMR][1000 genomes]
rs917918	0.86[AMR][1000 genomes]
rs917919	0.86[AMR][1000 genomes]
rs9648259	0.84[AMR][1000 genomes]
rs9655167	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9655168	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9655174	0.86[AFR][1000 genomes]
rs9655175	0.91[AFR][1000 genomes]
rs985306	0.85[AMR][1000 genomes]
rs985307	0.85[AMR][1000 genomes]
rs985881	0.84[AMR][1000 genomes]
rs985882	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887819	chr7:19262091-19658389	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	esv2752996	chr7:19392086-19684019	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2759517	chr7:19396146-19620962	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	esv2758107	chr7:19436043-19620962	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv2752153	chr7:19509002-19620651	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv887824	chr7:19524863-19687779	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv887825	chr7:19536977-19615992	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1026185	chr7:19564488-19612246	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv1016344	chr7:19574677-19654624	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1032609	chr7:19575555-19654624	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	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	chr7:19602400-19618600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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