Variant report

Variant	rs7571689
Chromosome Location	chr2:134436669-134436670
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	chr2:134434419..134436683-chr2:134439232..134441141,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73001982	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73007654	1.00[ASN][1000 genomes]
rs7560690	1.00[EUR][1000 genomes];1.00[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	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS 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
rs7571689	IMP4	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134432200-134441000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:134433000-134441200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:134434000-134438000	Weak transcription	Brain Angular Gyrus	brain
4	chr2:134434200-134438000	Weak transcription	Brain Substantia Nigra	brain
5	chr2:134434200-134438200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:134434200-134439800	Weak transcription	Fetal Stomach	stomach
7	chr2:134434400-134438000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:134434400-134438000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:134434400-134439200	Weak transcription	Brain Germinal Matrix	brain
10	chr2:134434400-134439600	Weak transcription	Left Ventricle	heart
11	chr2:134434400-134439800	Weak transcription	Fetal Lung	lung
12	chr2:134434600-134437800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:134434600-134437800	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:134434800-134437800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:134434800-134438000	Weak transcription	Brain Anterior Caudate	brain
16	chr2:134434800-134439800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:134435000-134438000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:134435200-134437000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:134435200-134438000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:134436200-134436800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:134436600-134436800	Enhancers	NH-A	brain
22	chr2:134436600-134437800	Weak transcription	Fetal Heart	heart

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