Variant report

Variant	rs12549988
Chromosome Location	chr8:69140264-69140265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1058194	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957423	0.84[EUR][1000 genomes]
rs10957425	0.84[EUR][1000 genomes]
rs12541905	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12544661	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12546271	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12547567	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12547594	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12548558	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12549883	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549887	0.94[ASN][1000 genomes]
rs12549980	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681348	0.83[EUR][1000 genomes]
rs13257592	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13258486	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13262547	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13271545	0.83[EUR][1000 genomes]
rs13271692	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13272579	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13276394	1.00[YRI][hapmap]
rs13281136	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13282050	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1404600	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1404601	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1525054	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1525055	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1525056	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16934405	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1880538	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1917544	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2280636	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2280637	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2280638	0.93[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2280639	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2280640	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2280641	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35741702	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6472391	0.84[EUR][1000 genomes]
rs6472392	0.82[EUR][1000 genomes]
rs6984731	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7001824	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004629	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7005736	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7819467	0.82[EUR][1000 genomes]
rs7821308	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7824298	0.83[EUR][1000 genomes]
rs868546	1.00[YRI][hapmap]
rs940664	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940665	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3331644	chr8:68806705-69189171	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv890976	chr8:69100070-69155563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69086000-69141600	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:69103200-69141400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:69103200-69141800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:69105400-69141400	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:69125800-69141200	Weak transcription	Brain Substantia Nigra	brain
6	chr8:69128400-69141400	Weak transcription	Brain Anterior Caudate	brain
7	chr8:69129200-69141400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:69130000-69151800	Weak transcription	Lung	lung
9	chr8:69130200-69141400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:69130600-69141200	Weak transcription	Adipose Nuclei	Adipose
11	chr8:69130800-69143600	Weak transcription	HUVEC	blood vessel
12	chr8:69131000-69151200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:69131200-69140600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:69131200-69141600	Weak transcription	Fetal Brain Male	brain
15	chr8:69131200-69145000	Weak transcription	Fetal Stomach	stomach
16	chr8:69131400-69141800	Weak transcription	Brain Angular Gyrus	brain
17	chr8:69133000-69151800	Weak transcription	Left Ventricle	heart
18	chr8:69133400-69141200	Weak transcription	NHDF-Ad	bronchial
19	chr8:69134600-69141400	Weak transcription	Aorta	Aorta
20	chr8:69135400-69141000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:69135400-69141800	Weak transcription	Right Atrium	heart
22	chr8:69136600-69141600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:69137000-69141400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:69137000-69141400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:69137400-69141400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:69138200-69141400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:69138200-69141400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:69138200-69141800	Weak transcription	Psoas Muscle	Psoas
29	chr8:69138400-69141400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:69138800-69140600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:69138800-69141200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:69139200-69141200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:69139200-69141200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:69139200-69141200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:69139400-69141200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:69139800-69141200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:69140000-69143000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:69140000-69143800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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