Variant report

Variant	rs10498531
Chromosome Location	chr14:70320156-70320157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11623504	0.85[GIH][hapmap]
rs11626135	0.85[GIH][hapmap]
rs11844140	0.81[AMR][1000 genomes]
rs2094273	0.81[AMR][1000 genomes]
rs2094274	0.81[AMR][1000 genomes]
rs2182521	0.94[EUR][1000 genomes]
rs4293310	0.81[AMR][1000 genomes]
rs4508369	0.81[AMR][1000 genomes]
rs55702672	0.81[AMR][1000 genomes]
rs55813576	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56011122	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56019785	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61982149	0.81[AMR][1000 genomes]
rs61982152	0.81[AMR][1000 genomes]
rs61982154	0.81[AMR][1000 genomes]
rs61982155	0.81[AMR][1000 genomes]
rs61982156	0.81[AMR][1000 genomes]
rs61983461	0.81[AMR][1000 genomes]
rs61983462	0.81[AMR][1000 genomes]
rs61983464	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61983474	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61983475	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61983476	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61983519	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61983520	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7157732	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7159823	0.85[GIH][hapmap]
rs72725783	0.81[AMR][1000 genomes]
rs72725796	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72725797	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8020042	0.85[GIH][hapmap]
rs943276	1.00[GIH][hapmap]
rs943277	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70316600-70321800	Weak transcription	Hela-S3	cervix
2	chr14:70317200-70325600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:70318000-70320200	Weak transcription	Placenta	Placenta
4	chr14:70318000-70323200	Enhancers	HepG2	liver
5	chr14:70318200-70320800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:70319000-70321000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:70319200-70320200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:70319200-70323200	Enhancers	Brain Germinal Matrix	brain
9	chr14:70319400-70320400	Enhancers	Dnd41	blood
10	chr14:70319400-70320800	Enhancers	Fetal Thymus	thymus
11	chr14:70320000-70320200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr14:70320000-70320400	Weak transcription	Fetal Brain Male	brain
13	chr14:70320000-70320800	Enhancers	Fetal Muscle Leg	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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