Variant report

Variant	rs718773
Chromosome Location	chr22:30504111-30504112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30502959..30506188-chr22:30648757..30654246,8	MCF-7	breast:
2	chr22:30502809..30506298-chr22:30639806..30643736,4	MCF-7	breast:
3	chr22:30502612..30504825-chr22:30819472..30821124,2	MCF-7	breast:
4	chr22:30500122..30506829-chr22:30640771..30648697,14	MCF-7	breast:
5	chr22:30503068..30507568-chr22:30652252..30654579,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268812	Chromatin interaction
ENSG00000128342	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1122239	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1160671	0.94[ASN][1000 genomes]
rs12233358	0.88[ASN][1000 genomes]
rs12483946	0.92[CHB][hapmap]
rs12484547	0.97[ASN][1000 genomes]
rs12484983	0.81[CHB][hapmap]
rs13053765	1.00[ASN][1000 genomes]
rs13054837	0.91[ASN][1000 genomes]
rs13055998	0.88[CHB][hapmap]
rs13056332	0.91[ASN][1000 genomes]
rs13056990	0.94[ASN][1000 genomes]
rs13057204	0.88[ASN][1000 genomes]
rs13057580	0.97[ASN][1000 genomes]
rs13057733	0.85[ASN][1000 genomes]
rs13057878	0.91[ASN][1000 genomes]
rs1476514	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2010916	0.84[ASN][1000 genomes]
rs2012308	0.88[ASN][1000 genomes]
rs2106722	0.92[ASN][1000 genomes]
rs2214047	0.91[ASN][1000 genomes]
rs2412961	0.84[CHB][hapmap]
rs2412977	0.91[ASN][1000 genomes]
rs2412979	0.91[ASN][1000 genomes]
rs34420020	0.85[ASN][1000 genomes]
rs34474867	0.91[ASN][1000 genomes]
rs34545612	0.91[ASN][1000 genomes]
rs35067150	0.91[ASN][1000 genomes]
rs35710453	0.91[ASN][1000 genomes]
rs36018230	0.91[ASN][1000 genomes]
rs3788422	0.84[CHB][hapmap]
rs4820829	0.97[ASN][1000 genomes]
rs4823067	0.88[ASN][1000 genomes]
rs4823071	1.00[ASN][1000 genomes]
rs4823080	0.93[CHB][hapmap]
rs5753002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs5753007	0.89[ASN][1000 genomes]
rs5753013	0.97[ASN][1000 genomes]
rs5753014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs5753015	0.97[ASN][1000 genomes]
rs5753019	0.97[ASN][1000 genomes]
rs5753020	0.97[ASN][1000 genomes]
rs5753022	0.97[ASN][1000 genomes]
rs5753027	0.94[ASN][1000 genomes]
rs5753028	0.91[ASN][1000 genomes]
rs5753029	0.91[ASN][1000 genomes]
rs5753030	0.91[ASN][1000 genomes]
rs5763681	0.84[CHB][hapmap]
rs5763695	0.84[CHB][hapmap]
rs5763701	0.84[CHB][hapmap]
rs5763734	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs5763742	0.88[ASN][1000 genomes]
rs5763746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs5763748	0.88[ASN][1000 genomes]
rs5763749	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5763750	0.91[ASN][1000 genomes]
rs5763758	1.00[ASN][1000 genomes]
rs5763759	0.94[ASN][1000 genomes]
rs5763763	1.00[ASN][1000 genomes]
rs5763766	1.00[ASN][1000 genomes]
rs5763769	1.00[ASN][1000 genomes]
rs5763774	1.00[ASN][1000 genomes]
rs5763782	1.00[ASN][1000 genomes]
rs5763787	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763788	0.97[ASN][1000 genomes]
rs5763801	0.94[ASN][1000 genomes]
rs5763805	0.97[ASN][1000 genomes]
rs5763810	0.97[ASN][1000 genomes]
rs5763825	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763852	0.91[ASN][1000 genomes]
rs5763854	0.91[ASN][1000 genomes]
rs5763861	0.91[ASN][1000 genomes]
rs5763872	0.93[CHB][hapmap]
rs6006393	0.82[CEU][hapmap];0.92[CHB][hapmap];0.89[EUR][1000 genomes]
rs6006399	0.89[EUR][1000 genomes]
rs7286304	0.89[ASN][1000 genomes]
rs7286681	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs739616	0.91[ASN][1000 genomes]
rs757026	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs766011	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs8142101	0.84[CHB][hapmap]
rs916807	0.84[CHB][hapmap]
rs975704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30501200-30504400	Weak transcription	NH-A	brain
2	chr22:30501400-30505800	Enhancers	A549	lung
3	chr22:30501600-30504400	Weak transcription	HSMM	muscle
4	chr22:30501800-30511800	Weak transcription	Osteobl	bone
5	chr22:30502000-30504600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr22:30502600-30504400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr22:30504000-30505600	Enhancers	Dnd41	blood

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