Variant report

Variant	rs72727982
Chromosome Location	chr4:147161053-147161054
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	JUND	chr4:147161032-147161108	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:146952161..146953880-chr4:147160452..147162957,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251010	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2291379	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	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72727982	POU4F2	cis	thalamus	BrainEAC

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147157200-147163400	Weak transcription	Right Ventricle	heart
2	chr4:147157600-147162200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:147157600-147162200	Weak transcription	NHLF	lung
4	chr4:147157600-147162600	Weak transcription	Fetal Stomach	stomach
5	chr4:147157800-147161200	Weak transcription	Left Ventricle	heart
6	chr4:147157800-147162600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:147157800-147162800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr4:147158000-147162200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:147158000-147162200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:147158000-147164400	Weak transcription	Lung	lung
11	chr4:147158200-147162800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:147158600-147162200	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:147158800-147162800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:147159400-147162200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:147159400-147162200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:147160400-147162600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:147160400-147162800	Weak transcription	Brain Substantia Nigra	brain
18	chr4:147160600-147162200	Weak transcription	Adipose Nuclei	Adipose
19	chr4:147160600-147164400	Weak transcription	Spleen	Spleen
20	chr4:147160800-147162600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:147160800-147163400	Weak transcription	Right Atrium	heart

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