Variant report

Variant	rs6687391
Chromosome Location	chr1:223871939-223871940
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223306753..223307263-chr1:223871830..223872497,2	MCF-7	breast:
2	chr1:223704824..223705726-chr1:223871821..223872570,3	K562	blood:
3	chr1:223306588..223308654-chr1:223869710..223872069,2	MCF-7	breast:
4	chr1:222965829..222966432-chr1:223871711..223872546,2	K562	blood:
5	chr1:223296797..223297694-chr1:223871442..223872189,2	MCF-7	breast:
6	chr1:223302425..223303476-chr1:223871639..223872580,3	MCF-7	breast:
7	chr1:223316232..223317128-chr1:223871672..223872436,2	K562	blood:
8	chr1:223704790..223705560-chr1:223871620..223872149,2	MCF-7	breast:
9	chr1:223306692..223307708-chr1:223871336..223872510,8	K562	blood:
10	chr1:223309399..223310109-chr1:223871653..223872525,2	K562	blood:
11	chr1:223348245..223349466-chr1:223871619..223872551,3	MCF-7	breast:
12	chr1:223306279..223308015-chr1:223870177..223873121,2	MCF-7	breast:
13	chr1:223840843..223844451-chr1:223871680..223874044,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000203697	Chromatin interaction
ENSG00000187554	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10495210	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10495212	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10799570	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10915972	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10916633	0.94[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1109222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1125346	0.89[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12408619	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12566877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16842027	0.94[CEU][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2186009	0.89[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34089008	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4653518	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4653520	0.84[EUR][1000 genomes]
rs4653523	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4653859	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4653863	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4653868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4653870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4653877	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57611697	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60773808	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6661481	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6662068	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs6671050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6677146	0.94[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6677519	0.85[ASN][1000 genomes]
rs6687688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691383	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6691396	0.88[EUR][1000 genomes]
rs6693911	0.89[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap]
rs6699830	0.82[CHB][hapmap]
rs6701150	0.94[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6704218	0.88[ASN][1000 genomes]
rs68072917	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72629690	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72629691	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7549550	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223871400-223872000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:223871400-223872000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:223871600-223872000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:223871600-223872200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:223871800-223872000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chr1:223871800-223872000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:223871800-223872000	Enhancers	Primary B cells from peripheral blood	blood
8	chr1:223871800-223872000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:223871800-223872000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:223871800-223872000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr1:223871800-223872000	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr1:223871800-223872200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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