Variant report

Variant	rs1112550
Chromosome Location	chr2:51735855-51735856
allele	A/T
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	CEBPB	chr2:51734625-51735863	IMR90	lung:	n/a	chr2:51734787-51734796 chr2:51734785-51734796 chr2:51734785-51734798 chr2:51734787-51734796 chr2:51734784-51734801 chr2:51734787-51734796 chr2:51734787-51734796 chr2:51734786-51734797

Variant related genes	Relation type
KNOP1P3	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11125355	0.97[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11562950	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11562961	0.99[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11563000	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11563001	0.88[ASN][1000 genomes]
rs11563045	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11563147	1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.96[ASN][1000 genomes]
rs11563168	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11563169	0.93[ASN][1000 genomes]
rs11563170	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11563171	0.95[ASN][1000 genomes]
rs11895794	0.80[EUR][1000 genomes]
rs11901456	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13010068	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13027868	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1406427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1406428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1528794	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1528804	0.85[EUR][1000 genomes]
rs1528806	0.83[EUR][1000 genomes]
rs1534609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1534610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17863618	0.98[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17868162	0.98[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1919420	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1919424	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs1919425	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap]
rs1919426	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1919427	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs2049737	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2698004	0.81[EUR][1000 genomes]
rs2698005	0.81[EUR][1000 genomes]
rs28950779	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs35083379	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007188	chr2:51135645-51821787	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535704	chr2:51135645-51821787	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1001552	chr2:51225970-52139741	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv535708	chr2:51225970-52139741	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv821624	chr2:51513925-51844864	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1011021	chr2:51712589-51803683	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv874069	chr2:51723107-52006583	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1011738	chr2:51731251-51976068	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3338177	chr2:51734298-51736496	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2755364	chr2:51734676-51792813	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv581881	chr2:51735494-51862691	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51734600-51736000	Enhancers	HUVEC	blood vessel
2	chr2:51734600-51736000	Enhancers	NH-A	brain
3	chr2:51734600-51736000	Enhancers	Osteobl	bone
4	chr2:51735600-51740200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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