Variant report

Variant	rs135123
Chromosome Location	chr22:32924733-32924734
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32920308-32927723..22:33178968-33185617	Hela-S3	cervix:
2	22:32920308-32927723..22:33389304-33403028	K562	blood:
3	22:32920308-32927723..22:33208968-33216036	H1-hESC	embryonic stem cell:	embryo
4	chr22:32922025..32930472-chr22:33196157..33204507,15	MCF-7	breast:
5	22:32920308-32927723..22:33253287-33262063	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000197047	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000183531	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000229673	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs130451	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs130452	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs130456	0.80[EUR][1000 genomes]
rs130457	0.80[EUR][1000 genomes]
rs135474	1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs135476	1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs135478	1.00[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs135483	0.82[ASN][1000 genomes]
rs2105865	0.88[CHB][hapmap]
rs2213405	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs2239766	1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2251400	0.81[ASN][1000 genomes]
rs2710380	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5749457	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs5754137	1.00[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs5754138	1.00[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs5754139	1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs762909	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs9609593	0.82[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32898600-32928000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr22:32898800-32927200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:32910200-32925600	Weak transcription	Spleen	Spleen
4	chr22:32914200-32928000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr22:32914400-32928200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:32914400-32932000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:32916000-32927600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:32920200-32928000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr22:32923600-32931400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr22:32923800-32925400	Enhancers	K562	blood
11	chr22:32923800-32926400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr22:32924000-32925000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:32924000-32925200	Active TSS	Brain Anterior Caudate	brain
14	chr22:32924200-32925200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr22:32924200-32925400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr22:32924200-32932200	Enhancers	Placenta	Placenta
17	chr22:32924400-32924800	Active TSS	Brain Hippocampus Middle	brain
18	chr22:32924400-32925200	Active TSS	Brain Angular Gyrus	brain
19	chr22:32924400-32925200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr22:32924400-32925400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:32924400-32926200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:32924400-32926200	Enhancers	Right Ventricle	heart
23	chr22:32924400-32930200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr22:32924600-32924800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr22:32924600-32924800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:32924600-32924800	Active TSS	Brain Cingulate Gyrus	brain
27	chr22:32924600-32925000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:32924600-32925000	Flanking Active TSS	HepG2	liver
29	chr22:32924600-32925200	Active TSS	Brain Substantia Nigra	brain
30	chr22:32924600-32925400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr22:32924600-32925400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr22:32924600-32932000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr22:32924600-32932800	Enhancers	Fetal Muscle Leg	muscle

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