Variant report

Variant	rs1176971
Chromosome Location	chr14:41435835-41435836
allele	A/G
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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1176967	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1176975	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1176982	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1176983	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1176984	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1176986	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1176989	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1176990	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1182565	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12323538	0.85[EUR][1000 genomes]
rs12323548	0.83[EUR][1000 genomes]
rs12323842	0.85[EUR][1000 genomes]
rs1376837	0.85[EUR][1000 genomes]
rs1612328	0.85[EUR][1000 genomes]
rs1612454	0.85[EUR][1000 genomes]
rs1612496	0.85[EUR][1000 genomes]
rs1619176	0.85[EUR][1000 genomes]
rs1669561	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1669565	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1669581	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1669582	0.85[EUR][1000 genomes]
rs1669583	0.85[EUR][1000 genomes]
rs1669584	0.85[EUR][1000 genomes]
rs1669585	0.85[EUR][1000 genomes]
rs1669588	0.85[EUR][1000 genomes]
rs1669589	0.85[EUR][1000 genomes]
rs1669590	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1669591	0.85[EUR][1000 genomes]
rs1669592	0.85[EUR][1000 genomes]
rs1669594	0.85[EUR][1000 genomes]
rs1779591	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1779594	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1779595	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1779597	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1779598	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1779602	0.85[EUR][1000 genomes]
rs1779603	0.85[EUR][1000 genomes]
rs1779605	0.85[EUR][1000 genomes]
rs1779606	0.85[EUR][1000 genomes]
rs1779609	0.85[EUR][1000 genomes]
rs1779610	0.85[EUR][1000 genomes]
rs1779611	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1779612	0.85[EUR][1000 genomes]
rs1779614	0.85[EUR][1000 genomes]
rs1779615	0.85[EUR][1000 genomes]
rs1779619	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2415654	0.84[EUR][1000 genomes]
rs2600575	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2600576	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2600578	0.85[EUR][1000 genomes]
rs2600589	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2600591	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2600592	0.85[EUR][1000 genomes]
rs2600593	0.85[EUR][1000 genomes]
rs2600594	0.85[EUR][1000 genomes]
rs2600595	0.85[EUR][1000 genomes]
rs2600596	0.85[EUR][1000 genomes]
rs2799791	0.85[EUR][1000 genomes]
rs2799792	0.85[EUR][1000 genomes]
rs2799793	0.85[EUR][1000 genomes]
rs2799810	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2799815	0.85[EUR][1000 genomes]
rs2799816	0.84[EUR][1000 genomes]
rs2799817	0.85[EUR][1000 genomes]
rs35352678	0.85[EUR][1000 genomes]
rs7154583	0.84[EUR][1000 genomes]
rs8010564	0.85[EUR][1000 genomes]
rs8010651	0.85[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	nsv1052984	chr14:41234592-41437009	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	nsv901696	chr14:41350392-41437680	Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	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
20	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
21	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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41429000-41439200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:41429800-41443400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr14:41430000-41445200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:41430000-41456000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:41430200-41437200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:41432000-41436800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:41432000-41437200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:41432200-41436800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:41434800-41443400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:41435200-41436200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:41435800-41437200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:41435800-41437600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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