Variant report

Variant	rs1957021
Chromosome Location	chr14:32924505-32924506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32901776..32904730-chr14:32922169..32924745,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151320	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10130628	0.83[ASN][1000 genomes]
rs10139831	0.90[ASN][1000 genomes]
rs11628508	0.85[ASN][1000 genomes]
rs2145594	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3784191	0.93[ASN][1000 genomes]
rs3784193	0.93[ASN][1000 genomes]
rs6571522	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6571523	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6571524	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6571525	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7143943	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7149947	0.86[ASN][1000 genomes]
rs7157869	0.85[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	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1957021	ARHGAP5	cis	brain	BrainEAC

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32919200-32926400	Weak transcription	NHDF-Ad	bronchial
2	chr14:32919600-32926800	Weak transcription	Aorta	Aorta
3	chr14:32919800-32926200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:32920800-32926200	Weak transcription	Brain Anterior Caudate	brain
5	chr14:32920800-32926600	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:32920800-32930200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:32921600-32926400	Weak transcription	Brain Substantia Nigra	brain
8	chr14:32923800-32925000	Weak transcription	Fetal Heart	heart
9	chr14:32923800-32926200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:32923800-32926200	Weak transcription	Fetal Lung	lung
11	chr14:32923800-32926400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:32923800-32926400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:32923800-32926400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:32923800-32926400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:32923800-32926400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr14:32923800-32926400	Weak transcription	Osteobl	bone
17	chr14:32923800-32927200	Weak transcription	HSMM	muscle
18	chr14:32923800-32927400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:32923800-32927800	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:32923800-32929600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:32923800-32929600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:32923800-32936400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:32924000-32924800	Weak transcription	Psoas Muscle	Psoas
24	chr14:32924400-32928200	Enhancers	Rectal Smooth Muscle	rectum

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