Variant report

Variant	rs9985067
Chromosome Location	chr21:40696223-40696224
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr21:40696064-40696451	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
2	chr17:56707811..56709581-chr21:40694952..40696584,2	MCF-7	breast:
3	21:40695608-40702099..21:40757151-40764378	K562	blood:
4	chr21:40693407..40696384-chr21:40756189..40758708,3	MCF-7	breast:
5	chr21:40694517..40696973-chr21:40756862..40760741,3	MCF-7	breast:

No data

Variant related genes	Relation type
BRWD1	TF binding region
ENSG00000205581	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000238556	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000252915	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10154073	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12329720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12329767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2070866	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2178838	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2836941	0.81[EUR][1000 genomes]
rs2836946	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2836947	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2836962	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2836963	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2836970	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2836976	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836978	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2836979	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28397992	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28460573	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28494168	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28542479	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28580194	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28590100	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28665841	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28684434	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28693867	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28734946	0.82[EUR][1000 genomes]
rs4818020	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4818026	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7278048	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8130083	0.85[EUR][1000 genomes]
rs9284464	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9305673	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs997146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974266	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9975256	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9975728	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9975909	0.87[EUR][1000 genomes]
rs9975937	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9976346	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9977787	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9977926	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9979571	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9979691	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9979936	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9981349	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9981527	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9982825	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9982870	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9984922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9985148	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv587482	chr21:40684427-40706594	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv587483	chr21:40686327-40718161	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9985067	BRWD1	Cis_1M	lymphoblastoid	RTeQTL
rs9985067	BRWD1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40692400-40718400	Weak transcription	Right Atrium	heart

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