Variant report

Variant	rs4818088
Chromosome Location	chr21:41144749-41144750
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	chr21:41144717..41146805-chr21:41147192..41149848,2	MCF-7	breast:
2	chr21:41142349..41144750-chr21:41149538..41151762,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1004663	0.80[EUR][1000 genomes]
rs10470190	0.95[JPT][hapmap];0.81[AMR][1000 genomes]
rs11701338	0.90[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12626544	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12627540	0.80[EUR][1000 genomes]
rs1571710	0.80[ASN][1000 genomes]
rs1571712	0.81[JPT][hapmap]
rs2205205	0.90[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2837148	0.81[AMR][1000 genomes]
rs2837175	0.81[CEU][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2837176	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2837177	0.80[ASN][1000 genomes]
rs2837178	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2837183	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2837206	0.82[JPT][hapmap]
rs2837208	0.81[JPT][hapmap]
rs2837214	0.81[JPT][hapmap]
rs2837215	0.81[JPT][hapmap]
rs2837218	0.90[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2837219	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2837221	0.85[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2837223	0.90[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2837225	0.90[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2837226	0.85[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2837227	0.90[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2837229	0.90[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2837232	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2837246	0.80[EUR][1000 genomes]
rs2837253	0.80[EUR][1000 genomes]
rs4337554	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs461583	0.82[JPT][hapmap]
rs4816652	0.82[CEU][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4816653	0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4818092	0.82[JPT][hapmap]
rs4818094	0.81[JPT][hapmap]
rs4818096	0.81[CEU][hapmap]
rs7278733	0.90[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs731010	0.80[ASN][1000 genomes]
rs731592	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs741866	0.80[EUR][1000 genomes]
rs760285	0.90[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs760286	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9305680	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs981653	0.82[JPT][hapmap]
rs9974301	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9974413	0.81[EUR][1000 genomes]
rs9978994	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9980807	0.80[EUR][1000 genomes]
rs9980954	0.80[EUR][1000 genomes]
rs9982243	0.80[EUR][1000 genomes]
rs9983659	0.81[CEU][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS 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 miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv834099	chr21:41076873-41206030	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41110000-41148400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:41136800-41146000	Weak transcription	Placenta	Placenta
3	chr21:41137600-41152800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:41144000-41147600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:41144000-41147600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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