Variant report

Variant	rs12586422
Chromosome Location	chr14:41427999-41428000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11157178	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157179	0.86[AFR][1000 genomes]
rs11623232	0.90[AFR][1000 genomes]
rs11627809	0.90[AFR][1000 genomes]
rs1176968	0.85[ASN][1000 genomes]
rs1176974	0.84[ASN][1000 genomes]
rs1176976	0.83[ASN][1000 genomes]
rs1176988	0.80[ASN][1000 genomes]
rs11848509	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12588824	0.83[AFR][1000 genomes]
rs12881356	0.83[AFR][1000 genomes]
rs12882560	0.88[AFR][1000 genomes]
rs12883761	0.88[AFR][1000 genomes]
rs12883859	0.86[AFR][1000 genomes]
rs12883988	0.88[AFR][1000 genomes]
rs12884161	0.86[AFR][1000 genomes]
rs12885266	0.86[AFR][1000 genomes]
rs12886247	0.85[AFR][1000 genomes]
rs12888498	0.84[AFR][1000 genomes]
rs12889833	0.83[AFR][1000 genomes]
rs12891740	0.85[AFR][1000 genomes]
rs12892807	0.86[AFR][1000 genomes]
rs12895866	0.87[AFR][1000 genomes]
rs1669571	0.80[ASN][1000 genomes]
rs17111284	0.94[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1779584	0.80[ASN][1000 genomes]
rs1901475	0.98[AFR][1000 genomes]
rs1959948	0.83[AFR][1000 genomes]
rs1959949	0.83[AFR][1000 genomes]
rs2167538	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35673643	0.83[EUR][1000 genomes]
rs6572046	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs66463734	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6650501	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71409965	0.83[EUR][1000 genomes]
rs71409967	0.83[EUR][1000 genomes]
rs73306155	0.84[EUR][1000 genomes]
rs8013070	1.00[ASN][1000 genomes]
rs8014007	0.86[AFR][1000 genomes]
rs8014055	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8015182	0.88[AFR][1000 genomes]
rs8018536	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs8021649	0.89[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	nsv901664	chr14:40663978-41432350	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv901669	chr14:40832004-41432350	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41424400-41428400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:41425200-41428400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:41425400-41428400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:41426200-41430000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:41426400-41430000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:41426400-41430000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr14:41426400-41430400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:41426800-41430000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:41427000-41429000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr14:41427000-41429200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr14:41427000-41430000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:41427000-41430000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr14:41427600-41430200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:41427800-41428600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr14:41427800-41429000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
16	chr14:41427800-41429000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr14:41427800-41429400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
18	chr14:41427800-41429800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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