Variant report

Variant	rs59695248
Chromosome Location	chr4:128439420-128439421
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:128438189..128441215-chr4:128442876..128446018,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10005550	0.86[ASN][1000 genomes]
rs10212983	0.87[ASN][1000 genomes]
rs11098926	0.83[ASN][1000 genomes]
rs11728212	0.87[ASN][1000 genomes]
rs11937218	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12499018	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12500373	0.92[ASN][1000 genomes]
rs12502458	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505420	0.94[ASN][1000 genomes]
rs12505574	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12506112	0.94[ASN][1000 genomes]
rs12506317	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12508021	1.00[ASN][1000 genomes]
rs12513002	0.98[ASN][1000 genomes]
rs12513073	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12513077	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1355927	0.87[ASN][1000 genomes]
rs1399215	0.83[ASN][1000 genomes]
rs1514301	0.83[ASN][1000 genomes]
rs1514303	0.81[ASN][1000 genomes]
rs1514312	0.86[ASN][1000 genomes]
rs1514313	0.87[ASN][1000 genomes]
rs1514314	0.87[ASN][1000 genomes]
rs1514315	0.87[ASN][1000 genomes]
rs17012484	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012500	0.98[ASN][1000 genomes]
rs17012503	0.97[ASN][1000 genomes]
rs17012525	0.87[ASN][1000 genomes]
rs2007243	0.87[ASN][1000 genomes]
rs2137866	0.92[ASN][1000 genomes]
rs56077955	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57872398	0.99[ASN][1000 genomes]
rs58348395	0.92[ASN][1000 genomes]
rs61143634	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6817788	0.83[ASN][1000 genomes]
rs72621856	0.92[ASN][1000 genomes]
rs72621859	0.98[ASN][1000 genomes]
rs72621860	0.98[ASN][1000 genomes]
rs72621861	0.98[ASN][1000 genomes]
rs72621862	0.98[ASN][1000 genomes]
rs72621863	0.87[ASN][1000 genomes]
rs72621865	0.86[ASN][1000 genomes]
rs72621866	0.87[ASN][1000 genomes]
rs72621867	0.87[ASN][1000 genomes]
rs72621868	0.87[ASN][1000 genomes]
rs72621869	0.87[ASN][1000 genomes]
rs72621870	0.87[ASN][1000 genomes]
rs72621871	0.87[ASN][1000 genomes]
rs72621872	0.86[ASN][1000 genomes]
rs7435603	1.00[ASN][1000 genomes]
rs7653949	0.83[ASN][1000 genomes]
rs979051	0.83[ASN][1000 genomes]
rs9992141	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1029214	chr4:128292215-128683123	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active 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	8 gene(s)	inside rSNPs	diseases
3	nsv537247	chr4:128292215-128683123	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1015564	chr4:128394657-128506962	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1017325	chr4:128408370-128509276	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv595387	chr4:128410916-128523964	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv879916	chr4:128422400-128694288	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128437600-128441000	Enhancers	H9 Cell Line	embryonic stem cell
2	chr4:128437600-128443600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:128438000-128441200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr4:128438400-128440600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:128438400-128441200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:128438400-128441600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:128438600-128441200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:128438800-128439600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:128439000-128439600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr4:128439200-128439600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr4:128439200-128441000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:128439400-128439800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:128439400-128439800	Enhancers	K562	blood
14	chr4:128439400-128441000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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