Variant report

Variant	rs73972228
Chromosome Location	chr2:168134514-168134515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:168114351..168116891-chr2:168133743..168135416,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10186558	0.87[EUR][1000 genomes]
rs10189334	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10192896	0.91[EUR][1000 genomes]
rs1048982	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10497321	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10803821	0.85[EUR][1000 genomes]
rs10803822	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10930264	0.91[EUR][1000 genomes]
rs10930265	0.93[EUR][1000 genomes]
rs12105767	0.95[EUR][1000 genomes]
rs1357599	0.93[EUR][1000 genomes]
rs1403894	0.93[EUR][1000 genomes]
rs1403900	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1403901	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1479587	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1479591	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1523878	0.92[EUR][1000 genomes]
rs1540820	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1540821	0.92[EUR][1000 genomes]
rs1540822	0.87[EUR][1000 genomes]
rs1581484	0.91[EUR][1000 genomes]
rs1581485	0.91[EUR][1000 genomes]
rs1589728	0.88[EUR][1000 genomes]
rs16822928	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16853266	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16853267	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16853279	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16853282	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16853284	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16853285	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16853286	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16853288	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16853309	0.81[AMR][1000 genomes]
rs16853328	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16853331	0.81[AMR][1000 genomes]
rs16853337	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16853344	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16853346	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16853348	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16853353	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16853360	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16853370	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1851758	0.88[EUR][1000 genomes]
rs1851759	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1851760	0.91[EUR][1000 genomes]
rs1916742	0.90[EUR][1000 genomes]
rs1916746	0.91[EUR][1000 genomes]
rs1916747	0.83[EUR][1000 genomes]
rs2103098	0.91[EUR][1000 genomes]
rs2140501	0.86[EUR][1000 genomes]
rs2177441	0.93[EUR][1000 genomes]
rs2617368	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2689823	0.91[EUR][1000 genomes]
rs2689842	0.91[EUR][1000 genomes]
rs2927600	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3749004	0.81[AMR][1000 genomes]
rs3749006	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4538166	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57541611	0.98[ASN][1000 genomes]
rs57797869	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58013803	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59830730	1.00[ASN][1000 genomes]
rs59889092	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60102532	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60214239	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61208216	0.98[ASN][1000 genomes]
rs61529696	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61748715	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61750760	0.81[AMR][1000 genomes]
rs6432987	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6432988	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6715974	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6716354	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6726067	0.91[EUR][1000 genomes]
rs6731860	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6735992	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6739872	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6744215	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6746887	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6747157	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6749022	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6749144	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6759681	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73012072	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73970900	0.82[AMR][1000 genomes]
rs73972208	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73972212	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73972213	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73972215	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73972216	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73972217	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73972224	0.81[AMR][1000 genomes]
rs73972230	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564281	0.98[ASN][1000 genomes]
rs7573953	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7575951	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7576938	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7578175	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7580183	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7581012	0.81[AMR][1000 genomes]
rs7581190	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7593641	0.91[EUR][1000 genomes]
rs7594496	0.89[EUR][1000 genomes]
rs7600424	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7601984	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7602259	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7603405	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7604377	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7607246	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs922536	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs922537	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9287881	0.96[EUR][1000 genomes]
rs9751663	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9751666	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv979347	chr2:168092753-168141678	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr2:168133000-168143600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:168134000-168134600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:168134200-168134600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:168134200-168139200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:168134400-168134800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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