Variant report

Variant	rs7954135
Chromosome Location	chr12:25113246-25113247
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	chr12:25112900..25113752-chr12:25283318..25284098,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1032589	0.82[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10743528	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10743529	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10771147	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10771148	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10842435	0.80[EUR][1000 genomes]
rs10842438	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10842443	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11047721	0.82[CEU][hapmap]
rs11047725	0.80[EUR][1000 genomes]
rs11047729	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11047730	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11047731	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11047734	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12312448	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1497263	0.89[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.96[GIH][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs1566405	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1603552	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1603553	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1846019	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2645903	0.94[EUR][1000 genomes]
rs2645906	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2645909	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2645912	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2649762	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2649763	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2649764	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2649765	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2649766	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2649767	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2649768	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2728644	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2728649	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2728656	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2728657	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2728658	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes]
rs2728659	0.94[EUR][1000 genomes]
rs2728660	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2728661	1.00[CEU][hapmap];0.81[CHB][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes]
rs2728662	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes]
rs2728664	0.94[CEU][hapmap];0.81[CHB][hapmap];0.91[EUR][1000 genomes]
rs2728666	0.81[CEU][hapmap];0.81[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4261364	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4271466	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4350438	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4489839	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4494383	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4601874	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4963597	0.94[EUR][1000 genomes]
rs4963833	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4963835	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4963836	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4963837	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6487446	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7298026	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7312807	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7954046	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7967949	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7978200	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422312	chr12:24519392-25221686	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv898920	chr12:24648863-25147192	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1041221	chr12:24880443-25213168	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv541425	chr12:24880443-25213168	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv469170	chr12:24891175-25204353	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv557776	chr12:24891175-25204353	Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv557777	chr12:24891175-25205241	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv469173	chr12:24891175-25207653	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv557778	chr12:24891175-25207653	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv1049138	chr12:24921100-25164524	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv1051319	chr12:24921100-25238936	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
17	nsv1051968	chr12:24941350-25138118	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	nsv541427	chr12:24941350-25138118	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
19	nsv1037288	chr12:24941350-25238936	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
20	nsv541428	chr12:24941350-25238936	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
21	nsv1041218	chr12:24972019-25304356	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv832353	chr12:25060820-25119975	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
23	esv3378403	chr12:25084023-25181017	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
24	nsv898921	chr12:25106961-25184896	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25105800-25114800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:25107800-25114600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:25112800-25113800	Enhancers	GM12878-XiMat	blood
4	chr12:25113200-25113400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links