Variant report

Variant	rs4294368
Chromosome Location	chr1:196547688-196547689
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	chr1:196546060..196548308-chr1:196548538..196550690,3	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10737671	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10737676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737678	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10754192	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10754193	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs10754194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10754197	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10801536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10922081	0.82[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs10922087	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12072649	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133987	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407653	1.00[JPT][hapmap]
rs1339947	0.82[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs1339949	0.89[EUR][1000 genomes]
rs1339951	0.82[CEU][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs1360143	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416960	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416966	0.82[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs1416970	0.82[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs1416971	0.82[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs1538683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1556961	1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs1571489	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16839832	0.82[CEU][hapmap]
rs16839841	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs16839848	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs16839856	1.00[JPT][hapmap]
rs16839872	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs16839878	1.00[JPT][hapmap]
rs16839881	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs16839884	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs16839886	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs16839905	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs16839906	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs16839910	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs16839919	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs16840397	1.00[JPT][hapmap]
rs2335906	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs2335907	0.82[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs4314834	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs4316314	0.82[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs4405100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4515738	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs4518841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4562566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4601531	1.00[CEU][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4614205	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4625226	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4633231	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4658040	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs4658042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4658043	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs479718	1.00[JPT][hapmap]
rs6663649	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs6670223	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675592	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680722	0.89[EUR][1000 genomes]
rs6680890	0.99[AFR][1000 genomes]
rs6688468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702610	0.82[CEU][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7531491	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7533533	1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs7540922	1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs7541165	0.84[EUR][1000 genomes]
rs7544266	0.82[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs7544383	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs7552170	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv508685	chr1:196524030-196550980	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 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	chr1:196527800-196559400	Weak transcription	Ovary	ovary
2	chr1:196541600-196553200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:196546000-196548400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:196546200-196547800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:196546400-196547800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:196546400-196547800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:196546400-196548400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr1:196546400-196548400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:196546400-196548400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:196546600-196547800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:196547000-196548000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:196547000-196548200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:196547000-196551200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:196547200-196547800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:196547200-196547800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:196547200-196547800	Enhancers	Liver	Liver
17	chr1:196547600-196550400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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