Variant report

Variant	rs12430605
Chromosome Location	chr13:67704024-67704025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:67702842..67705667-chr13:67707651..67711312,4	K562	blood:
2	chr13:67701562..67704458-chr13:67707651..67710683,4	K562	blood:
3	chr13:67698083..67700641-chr13:67703157..67705033,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11148739	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11839518	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12429101	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12430801	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12431369	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12862246	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12870318	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1543617	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1543618	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17082149	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[ASN][1000 genomes]
rs17516342	0.83[CEU][hapmap];0.93[CHB][hapmap]
rs1927813	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs1927814	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs34505256	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4883795	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4883796	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66953206	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7331374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7335735	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7985006	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8000291	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8000469	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[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	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv430581	chr13:67572850-67762288	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv430582	chr13:67589898-67762299	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1037217	chr13:67589937-67728156	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1039600	chr13:67593961-67726047	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv541823	chr13:67593961-67726047	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv832641	chr13:67671691-67708713	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1053514	chr13:67687520-67775011	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67694000-67708400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr13:67699400-67706600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr13:67700400-67704600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr13:67700800-67704600	Weak transcription	Left Ventricle	heart
5	chr13:67701400-67704600	Enhancers	Brain Hippocampus Middle	brain
6	chr13:67701400-67707200	Weak transcription	A549	lung
7	chr13:67701800-67704200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr13:67702400-67705600	Weak transcription	Fetal Heart	heart
9	chr13:67702800-67708200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr13:67703200-67704200	Weak transcription	K562	blood
11	chr13:67703400-67704400	Weak transcription	Brain Anterior Caudate	brain
12	chr13:67703600-67704400	Weak transcription	Brain Angular Gyrus	brain
13	chr13:67703600-67704600	Weak transcription	Brain Substantia Nigra	brain
14	chr13:67703600-67708400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:67703800-67707600	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links