Variant report

Variant	rs4817998
Chromosome Location	chr21:40532168-40532169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40529860..40532688-chr21:40545443..40547905,2	K562	blood:
2	chr21:40138076..40140463-chr21:40532005..40534792,2	MCF-7	breast:
3	21:40526994-40534295..21:40748850-40752541	K562	blood:
4	chr21:40530353..40532192-chr21:40535723..40538696,2	MCF-7	breast:
5	chr21:40524814..40527539-chr21:40530496..40533251,3	K562	blood:
6	chr21:40530945..40533694-chr21:40534297..40536978,4	K562	blood:

Variant related genes	Relation type
ENSG00000182093	Chromatin interaction
ENSG00000227406	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1046289	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11700978	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1888490	1.00[CEU][hapmap]
rs2178838	0.84[EUR][1000 genomes]
rs2234545	0.91[EUR][1000 genomes]
rs2297255	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2410103	0.85[EUR][1000 genomes]
rs2836936	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2836937	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2836941	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2836946	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2836947	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2836962	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2836963	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2836970	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2836976	1.00[CEU][hapmap]
rs2836978	1.00[CEU][hapmap]
rs2836979	1.00[CEU][hapmap]
rs28397992	0.81[EUR][1000 genomes]
rs28552370	0.95[EUR][1000 genomes]
rs28665841	0.84[EUR][1000 genomes]
rs28693867	0.84[EUR][1000 genomes]
rs28734946	0.85[EUR][1000 genomes]
rs376720	1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs379291	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs383965	0.97[EUR][1000 genomes]
rs420888	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs433013	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs446090	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs449428	1.00[EUR][1000 genomes]
rs4816613	0.85[EUR][1000 genomes]
rs4817994	0.85[EUR][1000 genomes]
rs4817995	0.85[EUR][1000 genomes]
rs4817997	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6517516	1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6517517	1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7278048	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7280764	0.85[EUR][1000 genomes]
rs7281540	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs8126528	0.85[EUR][1000 genomes]
rs8129850	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs8130798	0.97[EUR][1000 genomes]
rs9305665	0.80[CHB][hapmap]
rs9305669	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs9305670	0.97[EUR][1000 genomes]
rs9975909	0.80[EUR][1000 genomes]
rs9977787	0.83[EUR][1000 genomes]
rs9979691	1.00[CEU][hapmap]
rs9979936	0.84[EUR][1000 genomes]
rs9981595	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs9985148	0.84[EUR][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	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4817998	BRWD1	cis	multi-tissue	Pritchard

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40531000-40532200	Enhancers	HSMMtube	muscle
2	chr21:40531000-40532400	Enhancers	Fetal Muscle Leg	muscle
3	chr21:40531000-40533400	Enhancers	HepG2	liver
4	chr21:40531200-40532200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr21:40531400-40532200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr21:40531600-40532200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:40531600-40532200	Enhancers	Psoas Muscle	Psoas
8	chr21:40531600-40532600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr21:40531600-40532800	Enhancers	Fetal Muscle Trunk	muscle
10	chr21:40532000-40533000	Enhancers	Spleen	Spleen

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