Variant report

Variant	rs9607005
Chromosome Location	chr22:33434664-33434665
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32750950-32761732..22:33433588-33439708	Hela-S3	cervix:
2	22:32740683-32750950..22:33433588-33439708	K562	blood:
3	22:32920308-32927723..22:33433588-33439708	Hela-S3	cervix:
4	22:32578360-32590642..22:33433588-33439708	K562	blood:
5	22:32872511-32874561..22:33433588-33439708	Hela-S3	cervix:
6	22:33190123-33206921..22:33433588-33439708	K562	blood:

Variant related genes	Relation type
ENSG00000100225	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000128253	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11089601	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12484058	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484091	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894536	0.89[ASN][1000 genomes]
rs2413161	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413162	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55851829	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998705	0.81[EUR][1000 genomes]
rs62234240	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7291322	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292646	0.89[ASN][1000 genomes]
rs8138938	0.89[ASN][1000 genomes]
rs9607004	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9607006	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609683	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609684	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609685	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609686	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609687	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609688	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9609689	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609690	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609691	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609693	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609695	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9609696	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9607005	PCDHB2	trans	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33431000-33435200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:33431800-33434800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr22:33432400-33449800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr22:33433000-33435400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr22:33433200-33434800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:33433400-33435200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr22:33433600-33434800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr22:33433600-33435200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr22:33433600-33435200	Enhancers	Fetal Brain Male	brain
10	chr22:33433800-33435000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:33433800-33435000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr22:33434000-33434800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:33434000-33435200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:33434000-33435200	Enhancers	Right Atrium	heart
15	chr22:33434000-33435200	Enhancers	HMEC	breast
16	chr22:33434200-33434800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr22:33434200-33434800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
18	chr22:33434200-33434800	Enhancers	Esophagus	oesophagus
19	chr22:33434200-33435000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr22:33434200-33435000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr22:33434400-33434800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:33434400-33435000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr22:33434400-33435200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr22:33434400-33437000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr22:33434400-33437600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:33434600-33437600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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