Variant report

Variant	rs130405
Chromosome Location	chr22:32466012-32466013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:31836635-31847259..22:32461576-32467025	Hela-S3	cervix:
2	22:32053085-32061138..22:32461576-32467025	Hela-S3	cervix:
3	22:32461576-32467025..22:32868055-32872511	Hela-S3	cervix:
4	chr22:32465621..32467370-chr22:32469913..32471979,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100225	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000241878	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12166759	1.00[YRI][hapmap]
rs130256	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs130257	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs130264	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs130268	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13054053	0.84[AFR][1000 genomes]
rs17746358	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2413069	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36065572	0.84[AFR][1000 genomes]
rs3761432	0.93[CEU][hapmap]
rs3788440	0.94[CEU][hapmap]
rs3827334	0.93[CEU][hapmap]
rs4821026	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5753861	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6518758	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs738181	1.00[CEU][hapmap]
rs8141732	0.81[EUR][1000 genomes]
rs933226	1.00[CEU][hapmap]
rs9606893	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9606904	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9606905	0.81[EUR][1000 genomes]
rs9606907	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9606908	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9609389	0.93[CEU][hapmap]
rs9609396	0.87[CEU][hapmap]
rs9609409	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9609427	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9609432	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9609441	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9619244	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9621386	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9621390	0.97[ASN][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	nsv1055450	chr22:32356150-32468832	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1060529	chr22:32370432-32525699	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv834177	chr22:32416679-32594663	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	esv1803811	chr22:32441022-32509431	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32442200-32468400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:32442200-32469200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr22:32457800-32469400	Weak transcription	Right Ventricle	heart
4	chr22:32460000-32467000	Genic enhancers	Fetal Intestine Small	intestine
5	chr22:32460400-32476000	Weak transcription	Pancreas	Pancrea
6	chr22:32462400-32468400	Strong transcription	Duodenum Mucosa	Duodenum
7	chr22:32463000-32472000	Weak transcription	Right Atrium	heart
8	chr22:32463400-32469400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr22:32463800-32472000	Weak transcription	Colonic Mucosa	Colon
10	chr22:32464000-32466800	Genic enhancers	Fetal Intestine Large	intestine
11	chr22:32464800-32466400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr22:32465200-32468000	Weak transcription	Fetal Heart	heart
13	chr22:32465600-32466200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr22:32465800-32466200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr22:32465800-32466200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr22:32465800-32466200	Enhancers	Psoas Muscle	Psoas
17	chr22:32466000-32466400	Weak transcription	Left Ventricle	heart

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