Variant report

Variant	rs12681258
Chromosome Location	chr8:46907428-46907429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10090166	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10216494	0.82[EUR][1000 genomes]
rs10216568	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10216759	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10866903	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11136096	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11136181	0.81[AMR][1000 genomes]
rs11136210	0.88[AMR][1000 genomes]
rs11136213	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11136214	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11136247	0.81[AMR][1000 genomes]
rs11136249	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11776629	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11776913	0.86[AMR][1000 genomes]
rs11778237	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11779562	0.81[AMR][1000 genomes]
rs11782164	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11783264	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11785812	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12544729	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12545614	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12676202	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12678280	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12678943	0.81[EUR][1000 genomes]
rs12678983	0.88[AMR][1000 genomes]
rs12680749	0.88[AMR][1000 genomes]
rs13249362	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13253742	0.82[AMR][1000 genomes]
rs13255141	0.82[AMR][1000 genomes]
rs13256139	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13257202	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13261801	0.82[AMR][1000 genomes]
rs13262569	0.81[EUR][1000 genomes]
rs13264613	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13267636	0.82[AMR][1000 genomes]
rs13270532	0.83[AMR][1000 genomes]
rs13278440	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1608733	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1880505	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1880507	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1880508	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1917427	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1917428	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1917435	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1917437	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2177671	0.82[AMR][1000 genomes]
rs2204395	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4242437	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4265202	0.87[EUR][1000 genomes]
rs4349992	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4475488	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4486212	0.82[EUR][1000 genomes]
rs4509329	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4872560	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4872565	0.82[AMR][1000 genomes]
rs4872731	0.82[AMR][1000 genomes]
rs4872732	0.82[AMR][1000 genomes]
rs4872742	0.91[AMR][1000 genomes]
rs7016563	0.82[AMR][1000 genomes]
rs72638649	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7293738	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7816964	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7819716	0.81[AMR][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	nsv1026441	chr8:46847522-46912015	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
2	nsv1031442	chr8:46847522-46927075	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
3	nsv1018446	chr8:46847522-46933024	Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv1034986	chr8:46847522-46936604	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv1033056	chr8:46847522-46954695	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	nsv1017900	chr8:46847522-47024380	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1028273	chr8:46847522-47063432	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv1022441	chr8:46847522-47175405	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv1020385	chr8:46847522-47199227	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1026941	chr8:46847522-47203990	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv1031996	chr8:46847522-47361594	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv1018413	chr8:46847522-47436605	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv1030943	chr8:46847522-47517000	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1031244	chr8:46847522-47735165	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv1032451	chr8:46847522-47743250	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	nsv1018479	chr8:46847522-47776897	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	esv2761184	chr8:46847534-47743262	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	nsv428199	chr8:46868542-47280620	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
19	esv2829896	chr8:46896972-47287147	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
20	nsv611229	chr8:46902917-47439358	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
21	esv3332176	chr8:46905587-46909885	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46896800-46911200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr8:46901400-46908200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr8:46901800-46911400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:46902400-46908200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr8:46903400-46907600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:46903600-46907600	Weak transcription	HUVEC	blood vessel

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