Variant report

Variant	rs1439748
Chromosome Location	chr2:210021648-210021649
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10202661	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1079127	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10932285	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465307	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12466351	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12466359	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12470715	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1439746	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522190	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1522204	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1522205	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16842384	0.85[ASN][1000 genomes]
rs16842388	0.85[ASN][1000 genomes]
rs16842403	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16842470	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16842488	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842496	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17738719	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1963242	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3890029	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3910599	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3914940	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3919699	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075133	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4617987	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55876900	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56185941	0.91[ASN][1000 genomes]
rs56289357	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56318207	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57265106	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62212901	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62212905	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62212943	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62212944	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62215872	0.85[ASN][1000 genomes]
rs6715032	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7425577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012184	chr2:209755847-210049331	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv536131	chr2:209755847-210049331	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1009924	chr2:209805661-210042572	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1002578	chr2:209836205-210026339	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv536132	chr2:209836205-210026339	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv584307	chr2:209966941-210024938	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv875762	chr2:209992353-210036655	Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1010749	chr2:209999344-210026471	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv875763	chr2:210000582-210036655	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210006200-210025400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:210012400-210022800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:210012400-210022800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:210021000-210024000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:210021400-210021800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:210021400-210022400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:210021400-210023000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:210021400-210023800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:210021600-210022000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:210021600-210022400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:210021600-210023800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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