Variant report

Variant	rs72960172
Chromosome Location	chr2:100985028-100985029
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	chr2:100983538..100985756-chr2:100989415..100992137,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10167159	1.00[ASN][1000 genomes]
rs10180570	0.88[ASN][1000 genomes]
rs10184899	0.88[ASN][1000 genomes]
rs10193535	0.88[ASN][1000 genomes]
rs10198495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200480	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206374	0.88[ASN][1000 genomes]
rs10208900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208911	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107429	1.00[ASN][1000 genomes]
rs13391930	0.88[ASN][1000 genomes]
rs13396147	0.88[ASN][1000 genomes]
rs13404823	0.88[ASN][1000 genomes]
rs13407408	0.88[ASN][1000 genomes]
rs13407648	0.88[ASN][1000 genomes]
rs13407891	0.88[ASN][1000 genomes]
rs13410582	0.88[ASN][1000 genomes]
rs13419808	0.88[ASN][1000 genomes]
rs13420942	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347721	0.88[ASN][1000 genomes]
rs1370627	1.00[ASN][1000 genomes]
rs1437970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1437972	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023985	1.00[ASN][1000 genomes]
rs17024035	1.00[ASN][1000 genomes]
rs17024129	0.88[ASN][1000 genomes]
rs17024136	0.88[ASN][1000 genomes]
rs17024144	0.88[ASN][1000 genomes]
rs1898571	0.88[ASN][1000 genomes]
rs1898573	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1898574	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309793	1.00[ASN][1000 genomes]
rs3791358	0.80[AMR][1000 genomes]
rs55640826	0.88[ASN][1000 genomes]
rs55843950	0.88[ASN][1000 genomes]
rs56051859	1.00[ASN][1000 genomes]
rs56118658	0.88[ASN][1000 genomes]
rs56342384	1.00[ASN][1000 genomes]
rs56656536	0.88[ASN][1000 genomes]
rs58876304	0.88[ASN][1000 genomes]
rs60131548	0.88[ASN][1000 genomes]
rs60609848	0.88[ASN][1000 genomes]
rs60898093	0.88[ASN][1000 genomes]
rs61321970	1.00[ASN][1000 genomes]
rs6542931	1.00[ASN][1000 genomes]
rs6542932	1.00[ASN][1000 genomes]
rs6542939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542941	1.00[ASN][1000 genomes]
rs6542943	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6542945	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6708942	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6713862	0.88[ASN][1000 genomes]
rs6714109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716009	0.88[ASN][1000 genomes]
rs6716367	0.88[ASN][1000 genomes]
rs6724695	0.88[ASN][1000 genomes]
rs6732285	1.00[ASN][1000 genomes]
rs6738566	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6739576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750866	1.00[ASN][1000 genomes]
rs6754379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757774	0.88[ASN][1000 genomes]
rs6758156	0.88[ASN][1000 genomes]
rs6758161	0.88[ASN][1000 genomes]
rs6758515	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6761561	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72960184	0.88[ASN][1000 genomes]
rs72960186	0.88[ASN][1000 genomes]
rs72960202	0.88[ASN][1000 genomes]
rs73966107	1.00[ASN][1000 genomes]
rs73966108	1.00[ASN][1000 genomes]
rs73968412	1.00[ASN][1000 genomes]
rs73968415	0.94[ASN][1000 genomes]
rs73968817	1.00[ASN][1000 genomes]
rs7556717	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557137	1.00[ASN][1000 genomes]
rs7559939	0.88[ASN][1000 genomes]
rs7559946	0.88[ASN][1000 genomes]
rs7562461	0.88[ASN][1000 genomes]
rs7562479	0.88[ASN][1000 genomes]
rs7562486	0.88[ASN][1000 genomes]
rs7562615	0.88[ASN][1000 genomes]
rs7564178	0.88[ASN][1000 genomes]
rs7567130	0.83[AMR][1000 genomes]
rs7572119	0.88[ASN][1000 genomes]
rs7574684	0.88[ASN][1000 genomes]
rs7576749	0.88[ASN][1000 genomes]
rs7585898	0.88[ASN][1000 genomes]
rs7587333	0.88[ASN][1000 genomes]
rs7597631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606723	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308834	0.88[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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv963673	chr2:100971453-100986967	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv874701	chr2:100976139-101023261	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 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	chr2:100983400-100985200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:100983600-100985200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:100983600-100986200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:100983800-100985600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr2:100984600-100985200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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