Variant report

Variant	rs2148500
Chromosome Location	chr14:70314931-70314932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11624301	1.00[ASN][1000 genomes]
rs11626145	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11628031	0.81[EUR][1000 genomes]
rs11628994	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56176047	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56387453	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72725773	0.88[ASN][1000 genomes]
rs72725776	0.91[ASN][1000 genomes]
rs72725780	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72725792	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725793	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725794	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725798	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725799	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72725801	0.87[EUR][1000 genomes]
rs943273	0.85[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2148500	RGS6	cis	cerebellum	SCAN
rs2148500	SLC8A3	cis	parietal	SCAN
rs2148500	TTC9	cis	parietal	SCAN
rs2148500	ERH	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70310000-70315000	Enhancers	HepG2	liver
2	chr14:70310200-70316200	Weak transcription	Fetal Brain Female	brain
3	chr14:70310600-70315600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:70310800-70315800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:70311200-70316800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:70312600-70315200	Weak transcription	Brain Germinal Matrix	brain
7	chr14:70312600-70316400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:70312800-70315000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:70312800-70315000	Weak transcription	Placenta	Placenta
10	chr14:70313000-70315800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:70313200-70318200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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