Variant report

Variant	rs10072683
Chromosome Location	chr5:17065800-17065801
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	chr5:17055618..17058211-chr5:17065724..17068403,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-2	chr5:17065660-17065809	XLOC_004306
2	lnc-BASP1-2	chr5:17065660-17065809	XLOC_004306

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10063043	0.80[AFR][1000 genomes]
rs10065034	1.00[AMR][1000 genomes]
rs10068569	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10078074	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10462740	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10866519	1.00[AMR][1000 genomes]
rs4267872	0.84[AFR][1000 genomes]
rs4267873	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4314398	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4327598	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4334884	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4348214	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4360043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4461629	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4505944	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4583886	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4702191	1.00[AMR][1000 genomes]
rs4702200	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6554975	0.80[AFR][1000 genomes]
rs6554976	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6554977	0.84[AFR][1000 genomes]
rs6554980	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6888500	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6894481	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7706452	1.00[AMR][1000 genomes]
rs7723573	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3510797	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3510798	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1795984	chr5:16973769-17078295	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1017222	chr5:17001819-17133274	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1021972	chr5:17011758-17091878	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1026025	chr5:17039665-17195440	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv968878	chr5:17060812-17067987	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17060000-17068200	Weak transcription	Stomach Mucosa	stomach
2	chr5:17062600-17066800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:17063600-17068200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:17063800-17066400	Enhancers	Fetal Lung	lung
5	chr5:17064600-17065800	Enhancers	Ovary	ovary
6	chr5:17064600-17070000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:17064800-17065800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:17064800-17066200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:17065000-17068000	Weak transcription	A549	lung
10	chr5:17065200-17067200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:17065600-17066000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:17065800-17066600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:17065800-17069600	Weak transcription	Ovary	ovary

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