Variant report

Variant	rs2147597
Chromosome Location	chr1:113743567-113743568
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113734546..113737390-chr1:113742167..113744163,2	K562	blood:
2	chr1:113737370..113741159-chr1:113741484..113744250,4	K562	blood:
3	chr1:113742202..113745553-chr1:113748111..113752057,3	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10442680	0.85[EUR][1000 genomes]
rs10494148	0.84[TSI][hapmap]
rs10494149	0.84[TSI][hapmap]
rs10494150	0.84[TSI][hapmap]
rs10494153	0.85[EUR][1000 genomes]
rs12125283	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12128592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12140812	0.85[EUR][1000 genomes]
rs12142981	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216890	0.81[TSI][hapmap]
rs1216899	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1324893	0.85[EUR][1000 genomes]
rs1626471	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497065	0.85[EUR][1000 genomes]
rs1766884	0.83[AMR][1000 genomes]
rs1853732	0.89[ASN][1000 genomes]
rs1853734	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1999906	1.00[ASW][hapmap];0.84[TSI][hapmap]
rs2788253	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2788255	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28570193	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839297	0.84[TSI][hapmap]
rs7543653	0.84[TSI][hapmap]
rs946220	0.94[TSI][hapmap];0.85[EUR][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	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS 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	100 gene(s)	inside rSNPs	diseases
4	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv2465	chr1:113731589-113776605	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113733400-113745200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:113738800-113745400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:113741800-113752200	Weak transcription	Lung	lung
4	chr1:113742200-113743800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:113742200-113745400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:113742400-113743800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:113742800-113745200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:113743000-113748600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:113743000-113748800	Weak transcription	Stomach Mucosa	stomach
10	chr1:113743200-113744800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:113743200-113747600	Weak transcription	Fetal Kidney	kidney
12	chr1:113743400-113744400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:113743400-113744400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:113743400-113745000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:113743400-113745000	Weak transcription	Placenta	Placenta
16	chr1:113743400-113748600	Weak transcription	K562	blood
17	chr1:113743400-113751800	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links