Variant report

Variant	rs2089061
Chromosome Location	chr4:127764432-127764433
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:127743580..127745854-chr4:127762876..127765537,2	K562	blood:
2	chr4:127764319..127766522-chr4:127767801..127769304,2	K562	blood:
3	chr4:127699055..127701009-chr4:127763669..127766462,2	K562	blood:
4	chr4:127753877..127756551-chr4:127761614..127765337,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1014773	0.87[ASN][1000 genomes]
rs10461207	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857117	0.87[ASN][1000 genomes]
rs11098891	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11098892	0.87[ASN][1000 genomes]
rs11098893	0.87[ASN][1000 genomes]
rs11098896	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098898	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098899	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1157308	0.87[ASN][1000 genomes]
rs1167190	1.00[ASN][1000 genomes]
rs11935382	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11940501	0.87[ASN][1000 genomes]
rs11941222	1.00[ASN][1000 genomes]
rs12163770	0.87[ASN][1000 genomes]
rs12503440	0.87[ASN][1000 genomes]
rs12504330	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507115	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12513145	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12647109	0.87[ASN][1000 genomes]
rs12650177	0.87[ASN][1000 genomes]
rs13111309	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13112652	0.87[ASN][1000 genomes]
rs13120973	0.84[AFR][1000 genomes]
rs13143010	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs13148138	0.87[ASN][1000 genomes]
rs13152355	0.84[AFR][1000 genomes]
rs13152658	0.81[AFR][1000 genomes]
rs13152826	0.87[ASN][1000 genomes]
rs1393991	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1393993	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1472701	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1503604	0.87[ASN][1000 genomes]
rs1503605	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503606	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503610	0.87[ASN][1000 genomes]
rs1503611	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503612	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1503614	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503631	0.87[ASN][1000 genomes]
rs1503633	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1532768	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1604719	0.87[ASN][1000 genomes]
rs1604724	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16997940	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17011528	1.00[ASN][1000 genomes]
rs17203028	1.00[ASN][1000 genomes]
rs1875740	0.87[ASN][1000 genomes]
rs1948827	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955281	0.87[ASN][1000 genomes]
rs1976483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013778	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs2013864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2134641	0.87[ASN][1000 genomes]
rs2134645	0.87[ASN][1000 genomes]
rs2174184	0.87[ASN][1000 genomes]
rs2391099	1.00[CHB][hapmap]
rs28666008	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28742896	1.00[ASN][1000 genomes]
rs28811377	1.00[ASN][1000 genomes]
rs28876486	1.00[ASN][1000 genomes]
rs2893192	0.87[ASN][1000 genomes]
rs4834142	0.87[ASN][1000 genomes]
rs4834144	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4834146	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4834147	0.80[EUR][1000 genomes]
rs55791209	1.00[ASN][1000 genomes]
rs62324217	1.00[ASN][1000 genomes]
rs6534583	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812442	0.87[ASN][1000 genomes]
rs6829454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6830097	0.87[ASN][1000 genomes]
rs6848985	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6856064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654869	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7662706	0.88[CEU][hapmap]
rs7672155	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7676848	0.87[ASN][1000 genomes]
rs7681140	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686181	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7691822	1.00[ASN][1000 genomes]
rs7694861	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696445	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7696767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs969315	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs986907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv879909	chr4:127646765-127792639	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv879910	chr4:127646765-127805466	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv879912	chr4:127706053-127775563	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3367258	chr4:127749396-127772702	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv428773	chr4:127760014-127913973	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127764000-127765400	ZNF genes & repeats	K562	blood
2	chr4:127764200-127765200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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