Variant report

Variant	rs1927814
Chromosome Location	chr13:67712035-67712036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:67710572..67712224-chr13:67713182..67714868,2	K562	blood:
2	chr13:67686001..67691093-chr13:67707345..67712221,5	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11148739	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11839518	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12429101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12430605	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12430801	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12431369	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12862246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12870318	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1543617	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1543618	0.80[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17082149	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17516342	0.93[CHB][hapmap]
rs1927813	0.87[CHB][hapmap];0.88[JPT][hapmap]
rs34505256	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4883795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4883796	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66953206	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7331374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7335735	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7985006	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8000291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8000469	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67709400-67717800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr13:67710200-67712600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:67710200-67721000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:67710400-67712600	Enhancers	K562	blood
5	chr13:67710400-67715000	Enhancers	A549	lung
6	chr13:67710600-67712200	Enhancers	Fetal Heart	heart
7	chr13:67710600-67712400	Enhancers	Brain Hippocampus Middle	brain
8	chr13:67710600-67712400	Weak transcription	Gastric	stomach
9	chr13:67710600-67713600	Weak transcription	Right Atrium	heart
10	chr13:67711000-67712800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:67711200-67712600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr13:67711200-67714200	Enhancers	Brain Anterior Caudate	brain
13	chr13:67711400-67712200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:67711400-67712200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:67711400-67712200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr13:67711400-67712200	Enhancers	HSMM	muscle
17	chr13:67711400-67713200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:67711400-67715000	Enhancers	Brain Substantia Nigra	brain
19	chr13:67711600-67712800	Enhancers	HUVEC	blood vessel
20	chr13:67711600-67713600	Enhancers	Brain Angular Gyrus	brain
21	chr13:67711600-67714400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:67711800-67712200	Enhancers	Brain Cingulate Gyrus	brain
23	chr13:67712000-67713200	Weak transcription	Liver	Liver

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