Variant report

Variant	rs4964752
Chromosome Location	chr12:104663135-104663136
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	chr12:104663030..104665289-chr12:104680142..104682081,2	K562	blood:

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10507174	1.00[MKK][hapmap]
rs10735392	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10735393	1.00[CEU][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.95[EUR][1000 genomes]
rs10735395	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10745995	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10745996	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778311	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs10778316	1.00[JPT][hapmap]
rs10778318	1.00[JPT][hapmap]
rs10778323	0.81[CEU][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap]
rs10861169	0.81[JPT][hapmap]
rs10861204	1.00[CEU][hapmap];0.83[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11111943	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11111955	0.81[ASN][1000 genomes]
rs11111960	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs11111963	1.00[JPT][hapmap]
rs11111983	0.80[AMR][1000 genomes]
rs12424869	1.00[JPT][hapmap]
rs12426783	0.83[EUR][1000 genomes]
rs17035324	0.81[JPT][hapmap]
rs17035504	0.86[CEU][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap]
rs17192854	1.00[MKK][hapmap]
rs17202862	0.93[CEU][hapmap]
rs4129598	1.00[ASW][hapmap];0.86[CEU][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.81[AMR][1000 genomes]
rs4246264	0.93[CEU][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4246269	1.00[CEU][hapmap];0.83[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4246270	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4246271	1.00[CEU][hapmap];0.83[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4388968	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4406890	0.81[JPT][hapmap]
rs4447242	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4502051	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4545635	1.00[ASW][hapmap];0.93[CEU][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4614534	1.00[ASW][hapmap];0.86[CEU][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.81[AMR][1000 genomes]
rs4630362	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4964227	0.93[CEU][hapmap]
rs4964228	0.93[CEU][hapmap]
rs4964257	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4964260	1.00[ASW][hapmap];0.93[CEU][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4964270	0.81[ASN][1000 genomes]
rs4964288	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4964627	0.86[CEU][hapmap]
rs4964735	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs4964741	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964761	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964779	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4964784	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6419386	0.91[AMR][1000 genomes]
rs6539128	0.81[AMR][1000 genomes]
rs6539137	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6539138	0.81[CEU][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap]
rs7132418	0.86[CEU][hapmap];0.82[AMR][1000 genomes]
rs7138035	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138317	0.92[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7138523	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs7139336	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7294997	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295413	0.83[AMR][1000 genomes]
rs7298613	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7299866	1.00[ASW][hapmap];0.86[CEU][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap]
rs7301631	0.91[JPT][hapmap]
rs7303483	0.83[AMR][1000 genomes]
rs7305872	0.84[AMR][1000 genomes]
rs73181916	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73181919	0.84[EUR][1000 genomes]
rs73181926	0.84[EUR][1000 genomes]
rs7342395	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs7957725	0.86[CEU][hapmap]
rs7958851	0.83[ASN][1000 genomes]
rs7962423	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7969351	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7969380	0.87[ASN][1000 genomes]
rs7969604	0.88[EUR][1000 genomes]
rs7972034	0.80[AMR][1000 genomes]
rs7975161	0.81[JPT][hapmap];0.81[MEX][hapmap];0.84[ASN][1000 genomes]
rs7978101	0.84[AMR][1000 genomes]
rs9738614	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9739826	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9739833	1.00[CEU][hapmap];0.83[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][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	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv983360	chr12:104658134-104664572	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104652000-104669600	Weak transcription	Hela-S3	cervix
2	chr12:104652800-104673000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:104658200-104664200	Weak transcription	A549	lung
4	chr12:104658200-104665600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:104658200-104670000	Weak transcription	NHLF	lung
6	chr12:104658200-104670200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:104658200-104670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:104658200-104672800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links