Variant report

Variant	rs7148591
Chromosome Location	chr14:70417792-70417793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr14:70417780-70418393	GM12878	blood:	n/a	chr14:70418174-70418189
2	POLR2A	chr14:70417766-70417922	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
SMOC1	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11848277	1.00[EUR][1000 genomes]
rs2069109	1.00[EUR][1000 genomes]
rs28456261	1.00[EUR][1000 genomes]
rs28468655	1.00[EUR][1000 genomes]
rs56290405	1.00[EUR][1000 genomes]
rs56723492	1.00[EUR][1000 genomes]
rs56837831	1.00[EUR][1000 genomes]
rs57139172	1.00[EUR][1000 genomes]
rs57292391	1.00[EUR][1000 genomes]
rs57709257	1.00[EUR][1000 genomes]
rs60048839	1.00[EUR][1000 genomes]
rs61059545	1.00[EUR][1000 genomes]
rs61226888	1.00[EUR][1000 genomes]
rs61253398	1.00[EUR][1000 genomes]
rs6573926	1.00[EUR][1000 genomes]
rs7150074	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74060658	1.00[EUR][1000 genomes]
rs74060659	1.00[EUR][1000 genomes]
rs74060660	1.00[EUR][1000 genomes]
rs74060661	1.00[EUR][1000 genomes]
rs74060662	1.00[EUR][1000 genomes]
rs74060663	1.00[EUR][1000 genomes]
rs74060677	1.00[EUR][1000 genomes]
rs74060680	1.00[EUR][1000 genomes]
rs74061016	1.00[EUR][1000 genomes]
rs74061017	1.00[EUR][1000 genomes]
rs8022592	1.00[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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70413600-70418400	Weak transcription	Fetal Brain Female	brain
2	chr14:70414800-70437400	Strong transcription	Hela-S3	cervix
3	chr14:70415400-70434400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:70415600-70419600	Weak transcription	HepG2	liver
5	chr14:70415800-70420000	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:70415800-70444600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:70416000-70418600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:70416000-70418800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:70416000-70422600	Weak transcription	Brain Substantia Nigra	brain
10	chr14:70416200-70418400	Weak transcription	Liver	Liver
11	chr14:70416200-70418600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:70416200-70418800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70416200-70418800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:70416200-70418800	Weak transcription	Brain Anterior Caudate	brain
15	chr14:70416200-70421800	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:70416800-70419000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:70417000-70420000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:70417200-70417800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:70417400-70418200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:70417600-70418400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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