Variant report

Variant	rs16946371
Chromosome Location	chr13:92300219-92300220
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:92298019..92302029-chr13:92302074..92306168,5	K562	blood:
2	chr13:91998514..92002509-chr13:92292790..92300343,7	K562	blood:
3	chr13:92008919..92012229-chr13:92298232..92301726,3	K562	blood:
4	chr13:92297056..92300246-chr13:92301325..92305110,3	K562	blood:

Variant related genes	Relation type
ENSG00000215417	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10492612	1.00[AMR][1000 genomes]
rs10492613	1.00[AMR][1000 genomes]
rs1336211	1.00[MEX][hapmap]
rs16946339	1.00[AMR][1000 genomes]
rs16946341	0.85[AMR][1000 genomes]
rs16946352	1.00[AMR][1000 genomes]
rs16946357	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946360	1.00[AMR][1000 genomes]
rs16946362	1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946374	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946377	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946381	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946386	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946392	1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946394	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946396	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946397	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946400	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946404	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946405	1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16946406	1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16946407	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946415	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946441	1.00[MEX][hapmap];0.87[MKK][hapmap]
rs17388158	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505797	1.00[MEX][hapmap]
rs55965175	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57140832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57792448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57927413	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57977827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58927659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59048158	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59240177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59356035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59594682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60874154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60875456	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61249711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7331612	1.00[MEX][hapmap]
rs7339074	1.00[MEX][hapmap]
rs73607976	1.00[AMR][1000 genomes]
rs73607979	1.00[AMR][1000 genomes]
rs73609965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609979	0.97[AFR][1000 genomes]
rs73609983	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609984	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609985	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609986	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609987	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73609989	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612008	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74104924	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs74104930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7999821	1.00[MEX][hapmap]
rs9589321	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042947	chr13:91571040-92416897	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
2	nsv541871	chr13:91571040-92416897	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
3	nsv1049382	chr13:92024240-92521180	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv541873	chr13:92024240-92521180	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv562714	chr13:92056911-92304974	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1041168	chr13:92062057-92301861	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv949582	chr13:92062331-92301861	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1040707	chr13:92072034-92302281	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1040709	chr13:92173603-92318362	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv2753383	chr13:92226599-92462699	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv900882	chr13:92228446-92304974	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv529268	chr13:92267310-92531263	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92299400-92300400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:92299600-92300600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:92299600-92301200	Enhancers	Hela-S3	cervix
4	chr13:92299800-92300400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:92299800-92300600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:92299800-92300600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:92300000-92300400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:92300000-92300400	Enhancers	Brain Germinal Matrix	brain

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