Variant report

Variant	rs7250569
Chromosome Location	chr19:19324443-19324444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19312779..19319489-chr19:19322201..19327588,8	K562	blood:
2	chr19:19316640..19318564-chr19:19323281..19325590,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184162	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10401713	0.84[GIH][hapmap];0.92[TSI][hapmap]
rs10409894	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10412238	0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10424365	0.86[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1050483	0.91[TSI][hapmap]
rs12459735	0.89[ASN][1000 genomes]
rs2238672	0.81[CEU][hapmap];0.93[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2283626	0.91[TSI][hapmap]
rs28618105	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808187	0.89[ASN][1000 genomes]
rs56007657	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73537466	0.82[EUR][1000 genomes]
rs8102111	0.88[ASN][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	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7250569	LOC729991-MEF2B	cis	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19322400-19324600	Active TSS	Brain Angular Gyrus	brain
2	chr19:19322400-19324600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
3	chr19:19322600-19325200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
4	chr19:19322800-19324600	Active TSS	Fetal Brain Male	brain
5	chr19:19323200-19325400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:19323200-19325400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:19323400-19324600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr19:19323400-19325000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:19323400-19326200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:19323600-19325000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:19323600-19325400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr19:19323800-19324800	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr19:19323800-19325600	Active TSS	Brain Anterior Caudate	brain
14	chr19:19323800-19325800	Enhancers	GM12878-XiMat	blood
15	chr19:19324000-19325000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:19324000-19325000	Active TSS	Brain Germinal Matrix	brain
17	chr19:19324200-19324800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:19324400-19324600	Flanking Active TSS	Fetal Brain Female	brain
19	chr19:19324400-19324600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
20	chr19:19324400-19324600	Bivalent Enhancer	Right Ventricle	heart

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