Variant report

Variant	rs470007
Chromosome Location	chr22:33408943-33408944
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr22:33408899-33409067	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000228194	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1012082	0.95[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs114509	0.95[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs133942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs133943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs133944	0.95[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs133945	0.95[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs133946	0.95[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs133948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs133949	0.95[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs133956	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs133957	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs133959	0.85[ASN][1000 genomes]
rs133962	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs133963	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs133965	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs133967	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs470006	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs470008	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs470010	0.85[ASN][1000 genomes]
rs470011	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5754371	0.87[ASN][1000 genomes]
rs713832	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs78506	0.84[CHB][hapmap];0.84[ASN][1000 genomes]
rs86666	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33402400-33414200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr22:33402600-33419400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr22:33402800-33409800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:33402800-33414600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr22:33403000-33420000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr22:33403400-33414000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:33403600-33415600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:33403800-33414600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:33403800-33417600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:33405400-33414600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr22:33406400-33414600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr22:33407400-33417000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr22:33408200-33411400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:33408400-33410200	Enhancers	HepG2	liver
15	chr22:33408400-33410800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr22:33408800-33410400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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