Variant report

Variant	rs2802067
Chromosome Location	chr14:41770523-41770524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11157218	0.97[EUR][1000 genomes]
rs11849564	0.92[YRI][hapmap]
rs12147995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431041	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1611914	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1614287	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1626452	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1627127	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1652920	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1652921	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs1652922	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1652923	0.90[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1652924	0.86[CEU][hapmap]
rs1652926	0.90[EUR][1000 genomes]
rs1778365	0.97[EUR][1000 genomes]
rs1778367	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1778368	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1778369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1778379	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1778380	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1778383	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1778392	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1778411	0.95[EUR][1000 genomes]
rs1779513	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1779514	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1779515	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1779517	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1779519	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1779526	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1779527	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1779528	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1779529	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1779530	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1779531	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1779532	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1779534	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1779537	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1782134	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1782135	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1782139	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1782141	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1782144	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1782145	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1782154	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1782162	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1782163	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1782170	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1782180	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1782181	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1782182	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1782183	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1782184	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1782186	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1782187	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1782188	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1782189	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1782190	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1891882	0.87[EUR][1000 genomes]
rs2567024	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2798983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2799788	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34067347	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041122	chr14:40956143-41869421	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv564464	chr14:40957542-41871875	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv456224	chr14:41432350-42059281	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv564471	chr14:41432350-42059281	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv901706	chr14:41587669-41803232	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1047300	chr14:41671653-42361098	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv1831164	chr14:41673017-42103168	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1037603	chr14:41717153-41849700	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv901731	chr14:41737397-41823890	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1044831	chr14:41743218-41997018	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv542057	chr14:41743218-41997018	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv901732	chr14:41758308-41803232	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
13	nsv901733	chr14:41758308-41823890	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	esv2757563	chr14:41766561-41880727	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv2759982	chr14:41766561-41880727	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv901734	chr14:41767006-41860852	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv901735	chr14:41767006-41938321	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv1050985	chr14:41770445-42004827	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv564558	chr14:41770523-41824382	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2802067	KBTBD11	trans	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41769400-41770800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr14:41770000-41770600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:41770000-41770800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:41770000-41772000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:41770000-41772400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr14:41770200-41770800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:41770200-41772200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:41770400-41771800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:41770400-41773000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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