Variant report

Variant	rs13233821
Chromosome Location	chr7:19813637-19813638
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr7:19811647-19813838	H1-neurons	neurons:	n/a	chr7:19812911-19812931 chr7:19812659-19812668 chr7:19812911-19812925 chr7:19812509-19812517 chr7:19812659-19812679 chr7:19813152-19813165 chr7:19812913-19812923

Variant related genes	Relation type
TMEM196	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10232870	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs10260360	0.86[EUR][1000 genomes]
rs10260527	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10263564	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10269891	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs12334001	0.88[ASN][1000 genomes]
rs12666159	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12672320	0.89[ASN][1000 genomes]
rs12672557	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12673970	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13230910	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13231036	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28605851	0.87[ASN][1000 genomes]
rs2892940	0.86[EUR][1000 genomes]
rs4719584	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4721825	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57916046	0.88[EUR][1000 genomes]
rs6945297	0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs6945533	0.88[ASN][1000 genomes]
rs6945753	0.90[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs6974669	0.86[EUR][1000 genomes]
rs6977660	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs714238	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs714239	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7779902	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7791038	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7812001	1.00[CEU][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][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	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv830918	chr7:19747674-19914527	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv1847477	chr7:19778086-19970584	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19813600-19813800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
2	chr7:19813600-19813800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
3	chr7:19813600-19813800	Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr7:19813600-19814000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:19813600-19814200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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