Variant report

Variant	rs1176983
Chromosome Location	chr14:41444274-41444275
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1176965	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1176967	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1176971	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1176975	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1176982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1176984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1176986	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1176989	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1176990	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1182565	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12323538	0.88[EUR][1000 genomes]
rs12323548	0.86[EUR][1000 genomes]
rs12323842	0.88[EUR][1000 genomes]
rs1376837	0.88[EUR][1000 genomes]
rs1612328	0.88[EUR][1000 genomes]
rs1612454	0.88[EUR][1000 genomes]
rs1612496	0.88[EUR][1000 genomes]
rs1619176	0.88[EUR][1000 genomes]
rs1669561	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1669565	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1669581	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1669582	0.88[EUR][1000 genomes]
rs1669583	0.88[EUR][1000 genomes]
rs1669584	0.88[EUR][1000 genomes]
rs1669585	0.88[EUR][1000 genomes]
rs1669588	0.88[EUR][1000 genomes]
rs1669589	0.88[EUR][1000 genomes]
rs1669590	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1669591	0.87[EUR][1000 genomes]
rs1669592	0.87[EUR][1000 genomes]
rs1669594	0.88[EUR][1000 genomes]
rs1779591	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1779594	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1779595	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1779597	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1779598	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1779602	0.88[EUR][1000 genomes]
rs1779603	0.88[EUR][1000 genomes]
rs1779605	0.87[EUR][1000 genomes]
rs1779606	0.87[EUR][1000 genomes]
rs1779609	0.88[EUR][1000 genomes]
rs1779610	0.88[EUR][1000 genomes]
rs1779611	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1779612	0.88[EUR][1000 genomes]
rs1779614	0.87[EUR][1000 genomes]
rs1779615	0.88[EUR][1000 genomes]
rs1779619	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2415654	0.87[EUR][1000 genomes]
rs2600575	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2600576	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2600578	0.88[EUR][1000 genomes]
rs2600589	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2600591	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2600592	0.88[EUR][1000 genomes]
rs2600593	0.88[EUR][1000 genomes]
rs2600594	0.88[EUR][1000 genomes]
rs2600595	0.88[EUR][1000 genomes]
rs2600596	0.87[EUR][1000 genomes]
rs2799791	0.88[EUR][1000 genomes]
rs2799792	0.88[EUR][1000 genomes]
rs2799793	0.88[EUR][1000 genomes]
rs2799810	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2799815	0.88[EUR][1000 genomes]
rs2799816	0.87[EUR][1000 genomes]
rs2799817	0.88[EUR][1000 genomes]
rs35352678	0.87[EUR][1000 genomes]
rs7154583	0.87[EUR][1000 genomes]
rs8010564	0.88[EUR][1000 genomes]
rs8010651	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	nsv534448	chr14:40960013-41634431	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1052990	chr14:41089513-41575560	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1047283	chr14:41206503-41535327	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1053355	chr14:41206503-41538195	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1054902	chr14:41207300-41538195	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1038788	chr14:41216776-41647283	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv542053	chr14:41216776-41647283	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv901693	chr14:41260584-41495543	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2752629	chr14:41285921-41509838	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv456221	chr14:41310156-41547184	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv564469	chr14:41310156-41547184	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv456223	chr14:41405093-41539775	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv564470	chr14:41405093-41539775	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv523330	chr14:41432350-41605556	Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv528301	chr14:41432350-41605556	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	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
19	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
20	nsv1053254	chr14:41436749-41677315	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv542054	chr14:41436749-41677315	Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41430000-41445200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:41430000-41456000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:41436200-41445800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:41441200-41446200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:41442000-41446000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:41443200-41444800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:41443400-41444600	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:41443600-41445000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:41443800-41444400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:41443800-41445800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:41444000-41444600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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