Variant report

Variant	rs9652020
Chromosome Location	chr12:40547379-40547380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10878035	0.85[CEU][hapmap]
rs11175023	0.87[CEU][hapmap]
rs11564198	0.87[CEU][hapmap]
rs11613206	0.80[AMR][1000 genomes]
rs12307750	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12308185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12309175	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1388592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1388598	0.88[GIH][hapmap]
rs1491943	0.83[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes]
rs17442511	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17519419	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28365192	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28365207	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs3763985	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4291738	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs931207	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899030	chr12:40509341-40580440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899031	chr12:40520684-40580440	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40544000-40547400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:40546200-40547400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:40546600-40547800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:40546600-40547800	Enhancers	A549	lung
5	chr12:40546600-40548400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:40546800-40548400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr12:40547000-40547800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:40547000-40547800	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:40547000-40548000	Enhancers	Primary B cells from cord blood	blood
10	chr12:40547200-40547400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:40547200-40547400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:40547200-40547600	Enhancers	HUVEC	blood vessel
13	chr12:40547200-40547600	Enhancers	NHEK	skin
14	chr12:40547200-40547800	Enhancers	HMEC	breast
15	chr12:40547200-40548000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr12:40547200-40558600	Weak transcription	Liver	Liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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