Variant report

Variant	rs4816634
Chromosome Location	chr21:40949775-40949776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40895888..40897721-chr21:40949552..40952315,2	MCF-7	breast:
2	chr21:40949058..40951815-chr21:40958704..40961249,3	MCF-7	breast:
3	chr21:40936564..40938095-chr21:40947433..40949927,2	MCF-7	breast:
4	chr21:40899001..40900930-chr21:40949117..40954040,4	MCF-7	breast:
5	chr21:40843042..40844967-chr21:40948609..40950746,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235012	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1076564	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11088487	0.83[ASN][1000 genomes]
rs1997543	0.80[JPT][hapmap]
rs2222580	0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs2837078	0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2837084	0.96[ASN][1000 genomes]
rs2837085	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2837087	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2837088	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2837089	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2837090	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2837092	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2898383	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41455449	0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs4818060	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs484678	0.88[ASN][1000 genomes]
rs486465	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs510750	0.88[ASN][1000 genomes]
rs517904	0.89[ASN][1000 genomes]
rs538329	0.87[ASN][1000 genomes]
rs572926	0.89[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs577473	0.95[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs586795	0.89[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs59004308	0.83[ASN][1000 genomes]
rs599045	0.88[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs599377	0.82[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs601732	0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs614610	0.83[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs617260	0.88[ASN][1000 genomes]
rs628045	0.88[ASN][1000 genomes]
rs630315	0.88[ASN][1000 genomes]
rs633705	0.95[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs647448	0.95[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs73358135	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73358157	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs914160	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs9712617	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	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
3	esv2756754	chr21:40857523-40966156	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2758820	chr21:40857523-40966156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv34779	chr21:40884871-40977473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv433457	chr21:40900348-40964553	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	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
8	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
9	esv17842	chr21:40918970-40965975	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr21:40948800-40950000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr21:40948800-40950800	Weak transcription	Placenta	Placenta
3	chr21:40948800-40951000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:40948800-40952800	Weak transcription	Fetal Heart	heart
5	chr21:40948800-40955000	Weak transcription	Right Atrium	heart
6	chr21:40948800-40959800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:40949000-40950800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr21:40949000-40951800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr21:40949000-40951800	Weak transcription	Stomach Mucosa	stomach
10	chr21:40949000-40952000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr21:40949400-40959000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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