Variant report

Variant	rs4592814
Chromosome Location	chr2:189138120-189138121
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189131302..189133805-chr2:189136850..189139662,2	K562	blood:
2	chr2:189136881..189139630-chr2:189148262..189150658,2	K562	blood:
3	chr2:189134790..189138324-chr2:189139251..189142315,6	K562	blood:
4	chr2:189136024..189138815-chr2:189144719..189147357,4	K562	blood:
5	chr2:189128910..189130678-chr2:189136126..189138896,2	K562	blood:
6	chr2:189136024..189140012-chr2:189145051..189148028,3	K562	blood:

Variant related genes	Relation type
ENSG00000200650	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10167709	0.87[ASN][1000 genomes]
rs10169317	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10174928	0.87[ASN][1000 genomes]
rs10179504	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10180687	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10182377	0.82[ASN][1000 genomes]
rs10185828	0.80[ASN][1000 genomes]
rs10189376	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198025	0.82[ASN][1000 genomes]
rs10199112	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10199264	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10202605	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206167	0.82[ASN][1000 genomes]
rs10206696	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10209733	0.80[ASN][1000 genomes]
rs10210696	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10931355	0.87[ASN][1000 genomes]
rs10931358	0.81[ASN][1000 genomes]
rs12151691	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12329399	0.87[ASN][1000 genomes]
rs12693489	0.80[ASN][1000 genomes]
rs12693498	0.87[ASN][1000 genomes]
rs12987194	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12990374	0.87[ASN][1000 genomes]
rs13384413	0.84[ASN][1000 genomes]
rs13387350	0.82[ASN][1000 genomes]
rs13388723	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13388746	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13389155	0.83[ASN][1000 genomes]
rs13389879	0.87[ASN][1000 genomes]
rs13394421	0.82[ASN][1000 genomes]
rs13397237	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13397399	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412312	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13413164	0.83[AFR][1000 genomes]
rs13415123	0.80[ASN][1000 genomes]
rs13420369	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13422836	0.82[ASN][1000 genomes]
rs13423891	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13424536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426709	0.82[ASN][1000 genomes]
rs13427070	0.81[ASN][1000 genomes]
rs34189381	0.80[ASN][1000 genomes]
rs34209722	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34253555	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34737832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35954758	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36070354	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4261684	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4274570	0.82[ASN][1000 genomes]
rs4349309	0.87[ASN][1000 genomes]
rs4361092	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4398237	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4430902	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4433962	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4458180	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4522565	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4640356	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4666758	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4992744	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56072532	0.82[ASN][1000 genomes]
rs58966470	0.82[ASN][1000 genomes]
rs58978246	0.80[ASN][1000 genomes]
rs60796263	0.87[ASN][1000 genomes]
rs6434273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66923332	0.82[ASN][1000 genomes]
rs66971459	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67086516	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67092191	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6718697	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6718999	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67240894	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6729182	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737728	0.82[ASN][1000 genomes]
rs6739162	0.87[ASN][1000 genomes]
rs6743636	0.82[ASN][1000 genomes]
rs6759539	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6759766	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67790470	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67798410	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67919447	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72907672	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7420700	0.87[ASN][1000 genomes]
rs7579610	0.82[ASN][1000 genomes]
rs7582137	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7593215	0.87[ASN][1000 genomes]
rs7595377	0.80[ASN][1000 genomes]
rs7598279	0.80[ASN][1000 genomes]
rs7607063	0.87[ASN][1000 genomes]
rs9288157	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv1811040	chr2:189119837-189150420	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region 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	chr2:189121800-189147800	Weak transcription	K562	blood
2	chr2:189131600-189140800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:189137200-189140200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:189137600-189139800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:189138000-189139000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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