Variant report

Variant	rs130446
Chromosome Location	chr22:32916292-32916293
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	22:32150875-32154575..22:32915608-32918105	GM12878	blood:

Variant related genes	Relation type
ENSG00000242251	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1056484	0.91[ASN][1000 genomes]
rs130444	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs130445	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs135121	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2097312	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5754125	0.95[ASN][1000 genomes]
rs73170402	0.82[ASN][1000 genomes]
rs738980	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914981	chr22:32912277-32940660	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32895200-32918400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr22:32898600-32928000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:32898800-32927200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:32904000-32924400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:32905400-32918600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:32908000-32916600	Weak transcription	Brain Substantia Nigra	brain
7	chr22:32910200-32925600	Weak transcription	Spleen	Spleen
8	chr22:32913200-32916600	Weak transcription	Brain Angular Gyrus	brain
9	chr22:32913400-32917000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:32914000-32916600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr22:32914000-32916600	Weak transcription	Brain Hippocampus Middle	brain
12	chr22:32914000-32917000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr22:32914000-32919200	Weak transcription	Adipose Nuclei	Adipose
14	chr22:32914200-32918400	Weak transcription	Brain Anterior Caudate	brain
15	chr22:32914200-32924000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:32914200-32928000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr22:32914400-32928200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr22:32914400-32932000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr22:32915600-32918800	Enhancers	Brain Cingulate Gyrus	brain
20	chr22:32915600-32919000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr22:32916000-32927600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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