Variant report

Variant	rs7144669
Chromosome Location	chr14:56382117-56382118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1107097	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12434440	0.87[CHD][hapmap]
rs17090687	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17090690	0.90[EUR][1000 genomes]
rs1952882	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2150509	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2183628	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2342851	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4898878	0.90[ASN][1000 genomes]
rs7146394	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7146594	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7149543	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs874656	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv34106	chr14:56346245-56550642	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv519022	chr14:56381207-56382729	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7144669	GMFB	cis	parietal	SCAN
rs7144669	C14orf37	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56373200-56392000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:56377600-56382400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:56378000-56382200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:56380400-56382200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:56380800-56394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:56381200-56382200	Enhancers	NH-A	brain
7	chr14:56381200-56382400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:56381200-56382400	Weak transcription	Brain Substantia Nigra	brain
9	chr14:56381600-56382400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr14:56381600-56382600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:56381600-56382600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:56381800-56382800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:56382000-56382200	Enhancers	Right Atrium	heart

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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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