Variant report

Variant	rs12548652
Chromosome Location	chr8:35584339-35584340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1001355	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10503982	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954989	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985782	0.86[ASN][1000 genomes]
rs12541844	1.00[ASN][1000 genomes]
rs12543831	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12543917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545460	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12546354	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12547338	1.00[ASN][1000 genomes]
rs12548530	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12549599	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549774	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12550434	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678392	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12679845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681078	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875853	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16875855	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16884235	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16884240	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16884241	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16884255	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16884258	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16884264	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16884266	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16884280	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884285	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884351	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16884365	1.00[ASN][1000 genomes]
rs16884373	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992090	0.98[ASN][1000 genomes]
rs2406165	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2897334	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3802318	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3824287	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739421	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4739422	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739423	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739424	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61357978	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983275	1.00[ASN][1000 genomes]
rs6996645	1.00[ASN][1000 genomes]
rs6998947	1.00[ASN][1000 genomes]
rs7007342	1.00[ASN][1000 genomes]
rs73583045	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73583047	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73583049	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73584844	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73584850	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73586708	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812475	1.00[ASN][1000 genomes]
rs7818904	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820516	1.00[ASN][1000 genomes]
rs7824631	1.00[ASN][1000 genomes]
rs7844971	0.98[ASN][1000 genomes]
rs7846338	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966868	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs966869	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv533420	chr8:35358115-36227536	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv831285	chr8:35485874-35648117	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2754662	chr8:35558658-35648958	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1032540	chr8:35565491-35949132	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35575000-35587400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:35575000-35600200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:35576000-35631600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:35576600-35586000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:35577000-35587800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:35579600-35584600	Strong transcription	Fetal Brain Female	brain
7	chr8:35580800-35585400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:35582000-35640600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:35582200-35590400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:35583000-35586200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:35583200-35589200	Weak transcription	Fetal Kidney	kidney
12	chr8:35583400-35584400	Enhancers	Small Intestine	intestine
13	chr8:35583400-35584400	Enhancers	Stomach Mucosa	stomach
14	chr8:35583400-35584800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:35583400-35585200	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr8:35583400-35586000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:35583600-35584400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:35583600-35585200	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:35583600-35585600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:35583800-35584600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:35583800-35585000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:35584000-35584600	Enhancers	Fetal Lung	lung
23	chr8:35584200-35584400	Enhancers	Fetal Intestine Small	intestine

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