Variant report

Variant	rs12503440
Chromosome Location	chr4:127767222-127767223
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	chr4:127761402..127763975-chr4:127765998..127768528,2	K562	blood:
2	chr4:127765926..127767639-chr4:127769595..127772371,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1014773	1.00[ASN][1000 genomes]
rs10461207	0.87[ASN][1000 genomes]
rs10857116	0.89[ASN][1000 genomes]
rs10857117	1.00[ASN][1000 genomes]
rs11098891	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11098892	1.00[ASN][1000 genomes]
rs11098893	1.00[ASN][1000 genomes]
rs11098896	0.87[ASN][1000 genomes]
rs11098898	0.87[ASN][1000 genomes]
rs1157308	1.00[ASN][1000 genomes]
rs1167190	0.87[ASN][1000 genomes]
rs11935382	0.87[ASN][1000 genomes]
rs11940501	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941222	0.87[ASN][1000 genomes]
rs12163770	1.00[ASN][1000 genomes]
rs12504330	0.87[ASN][1000 genomes]
rs12507115	0.87[ASN][1000 genomes]
rs12647109	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12650177	1.00[ASN][1000 genomes]
rs13111309	0.87[ASN][1000 genomes]
rs13112652	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120973	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13143010	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13148138	1.00[ASN][1000 genomes]
rs13152826	1.00[ASN][1000 genomes]
rs1393991	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs1503604	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503605	0.87[ASN][1000 genomes]
rs1503606	0.87[ASN][1000 genomes]
rs1503608	0.87[ASN][1000 genomes]
rs1503610	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503611	0.87[ASN][1000 genomes]
rs1503614	0.87[ASN][1000 genomes]
rs1503631	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1532768	0.87[ASN][1000 genomes]
rs1587744	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1604719	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1604724	0.87[ASN][1000 genomes]
rs17011528	0.87[ASN][1000 genomes]
rs17203028	0.87[ASN][1000 genomes]
rs1875740	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1948827	0.87[ASN][1000 genomes]
rs1955281	1.00[ASN][1000 genomes]
rs1976483	0.87[ASN][1000 genomes]
rs2013778	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013864	0.87[ASN][1000 genomes]
rs2089061	0.87[ASN][1000 genomes]
rs2134641	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2134645	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2174184	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391099	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs28666008	0.87[ASN][1000 genomes]
rs28742896	0.87[ASN][1000 genomes]
rs28811377	0.87[ASN][1000 genomes]
rs28876486	0.87[ASN][1000 genomes]
rs2893192	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4834142	1.00[ASN][1000 genomes]
rs55791209	0.87[ASN][1000 genomes]
rs62324217	0.87[ASN][1000 genomes]
rs6534583	0.87[ASN][1000 genomes]
rs6812442	1.00[ASN][1000 genomes]
rs6829454	0.87[ASN][1000 genomes]
rs6830097	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6848985	0.87[ASN][1000 genomes]
rs6856064	0.87[ASN][1000 genomes]
rs7654869	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7672155	0.87[ASN][1000 genomes]
rs7676848	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681140	0.87[ASN][1000 genomes]
rs7686181	0.87[ASN][1000 genomes]
rs7691822	0.87[ASN][1000 genomes]
rs7694861	0.87[ASN][1000 genomes]
rs7696445	0.87[ASN][1000 genomes]
rs7696767	0.87[ASN][1000 genomes]
rs969315	0.87[ASN][1000 genomes]
rs986907	0.87[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	chr4:127765200-127771600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:127767200-127767600	ZNF genes & repeats	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links