Variant report

Variant	rs2222904
Chromosome Location	chr7:79412996-79412997
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	chr7:79412469..79414428-chr7:79417950..79420307,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10240404	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10251224	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10252802	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11977110	0.95[ASN][1000 genomes]
rs1293091	0.92[ASN][1000 genomes]
rs1293109	0.92[ASN][1000 genomes]
rs1293110	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1293111	0.89[ASN][1000 genomes]
rs1293112	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1293113	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1293114	0.83[EUR][1000 genomes]
rs1293115	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1293116	0.83[EUR][1000 genomes]
rs1297413	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1523834	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1523842	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1523843	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1589726	0.88[EUR][1000 genomes]
rs1608511	0.89[EUR][1000 genomes]
rs16886625	0.92[ASN][1000 genomes]
rs17147916	0.92[ASN][1000 genomes]
rs17152857	0.95[ASN][1000 genomes]
rs17152858	0.95[ASN][1000 genomes]
rs17152859	0.95[ASN][1000 genomes]
rs17152860	0.95[ASN][1000 genomes]
rs17152864	0.95[ASN][1000 genomes]
rs17152888	0.95[ASN][1000 genomes]
rs17152926	0.86[ASN][1000 genomes]
rs17152944	0.84[ASN][1000 genomes]
rs1851752	0.95[ASN][1000 genomes]
rs1880167	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1916732	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1922725	0.92[ASN][1000 genomes]
rs1922726	0.92[ASN][1000 genomes]
rs1922728	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1922729	0.91[EUR][1000 genomes]
rs1922734	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244728	0.89[EUR][1000 genomes]
rs2244821	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2246996	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2264651	0.98[EUR][1000 genomes]
rs2366248	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465512	0.98[EUR][1000 genomes]
rs2465515	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2465517	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2689777	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2689779	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2689780	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2689782	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2689797	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2689802	0.98[EUR][1000 genomes]
rs2689804	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689805	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689806	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689810	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689811	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2707858	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2707886	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2707887	0.92[ASN][1000 genomes]
rs2707888	0.83[EUR][1000 genomes]
rs2707891	0.83[EUR][1000 genomes]
rs2707897	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2707915	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2707926	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2714640	0.90[ASN][1000 genomes]
rs2714641	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2714642	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714652	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2714653	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2714655	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2714656	0.91[ASN][1000 genomes]
rs2714661	0.91[ASN][1000 genomes]
rs2714662	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2714664	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2714680	0.94[EUR][1000 genomes]
rs2714695	0.92[ASN][1000 genomes]
rs2714696	0.92[ASN][1000 genomes]
rs2714701	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2714702	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4288313	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4394329	0.86[ASN][1000 genomes]
rs55772364	0.95[ASN][1000 genomes]
rs56320258	0.95[ASN][1000 genomes]
rs56351881	0.95[ASN][1000 genomes]
rs57226669	0.95[ASN][1000 genomes]
rs57870645	0.83[ASN][1000 genomes]
rs57942274	0.95[ASN][1000 genomes]
rs59149988	0.80[ASN][1000 genomes]
rs59329952	0.92[ASN][1000 genomes]
rs60390345	0.95[ASN][1000 genomes]
rs60870507	0.95[ASN][1000 genomes]
rs6466768	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6963713	0.89[EUR][1000 genomes]
rs73381226	0.95[ASN][1000 genomes]
rs73705067	0.95[ASN][1000 genomes]
rs7777781	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7780715	0.88[EUR][1000 genomes]
rs7789978	0.92[ASN][1000 genomes]
rs7794240	0.86[EUR][1000 genomes]
rs940305	0.88[EUR][1000 genomes]
rs940306	0.88[EUR][1000 genomes]
rs940307	0.88[EUR][1000 genomes]
rs940308	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2758121	chr7:79261464-79427646	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759540	chr7:79261464-79427646	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv607670	chr7:79310586-79434743	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2829876	chr7:79355196-79483480	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv888521	chr7:79371206-79483480	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv888522	chr7:79402551-79619012	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79409000-79419400	Weak transcription	NHLF	lung
2	chr7:79409200-79416800	Weak transcription	Osteobl	bone
3	chr7:79411400-79416600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:79411600-79420200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:79411800-79415400	Weak transcription	Fetal Lung	lung

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