Variant report

Variant	rs11901784
Chromosome Location	chr2:133935048-133935049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10205918	1.00[MEX][hapmap]
rs10496698	0.86[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11883752	1.00[MEX][hapmap]
rs11899352	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16846041	1.00[MEX][hapmap]
rs16857050	1.00[MEX][hapmap]
rs16857164	0.86[ASW][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16857175	0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16857181	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16857210	0.86[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16857345	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16857928	0.92[YRI][hapmap];0.81[AMR][1000 genomes]
rs2117307	0.91[YRI][hapmap]
rs4954030	0.85[YRI][hapmap]
rs55665571	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56338425	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56737980	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs59288803	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59500613	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs59801586	0.89[AMR][1000 genomes]
rs61188333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998828	1.00[AMR][1000 genomes]
rs72998840	1.00[AMR][1000 genomes]
rs73000811	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73000831	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73000836	0.89[AMR][1000 genomes]
rs73000838	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73000841	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73000856	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008004	chr2:133827250-133954810	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv949629	chr2:133830379-134014961	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1001601	chr2:133838626-134005959	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv948851	chr2:133864452-133955999	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv583167	chr2:133864452-133957689	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1011100	chr2:133900062-134046163	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1005405	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv535929	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133923600-133937000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:133934200-133935200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:133934800-133935200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:133934800-133935200	Enhancers	Osteobl	bone
5	chr2:133934800-133935400	Enhancers	NHLF	lung
6	chr2:133934800-133935600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:133934800-133935600	Enhancers	Gastric	stomach
8	chr2:133934800-133935600	Enhancers	Ovary	ovary
9	chr2:133935000-133935400	Enhancers	Liver	Liver
10	chr2:133935000-133935600	Enhancers	Muscle Satellite Cultured Cells	--

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