Variant report

Variant	rs12100496
Chromosome Location	chr14:70360525-70360526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10782458	0.85[CHB][hapmap]
rs1079903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1079904	0.87[EUR][1000 genomes]
rs10873222	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11158823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627546	0.85[CHB][hapmap]
rs1275842	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs1275844	0.85[CHB][hapmap]
rs1275847	0.85[CHB][hapmap]
rs1275848	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1275849	0.85[CHB][hapmap]
rs17558644	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1952202	0.85[CHB][hapmap]
rs2148501	0.82[CHB][hapmap]
rs2766463	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4899321	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4899322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902765	0.85[CHB][hapmap]
rs7145070	1.00[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 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	chr14:70350200-70361600	Weak transcription	Brain Germinal Matrix	brain
2	chr14:70356400-70361200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:70356800-70362200	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:70357600-70361600	Weak transcription	HMEC	breast
5	chr14:70357600-70362800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:70358400-70369400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:70359200-70360600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:70359200-70361800	Weak transcription	HepG2	liver
9	chr14:70359400-70361800	Weak transcription	Hela-S3	cervix
10	chr14:70360000-70366000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:70360400-70360600	Enhancers	Brain Hippocampus Middle	brain
12	chr14:70360400-70361400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:70360400-70363400	Weak transcription	Liver	Liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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