Variant report

Variant	rs2836720
Chromosome Location	chr21:40243237-40243238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40233699..40235250-chr21:40241949..40243850,2	K562	blood:
2	chr21:40241705..40244760-chr21:40247140..40250390,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11701301	1.00[ASN][1000 genomes]
rs11911369	0.81[ASN][1000 genomes]
rs17230954	0.87[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17230961	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2298560	0.87[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2410062	0.87[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2836715	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836717	1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836724	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836734	0.82[MEX][hapmap]
rs2836739	0.82[CEU][hapmap]
rs2836741	0.82[MEX][hapmap]
rs28420538	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs28508188	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28817686	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28836833	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs414845	0.82[JPT][hapmap]
rs467698	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs467806	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57740627	0.81[ASN][1000 genomes]
rs59086904	1.00[ASN][1000 genomes]
rs714780	0.81[ASN][1000 genomes]
rs7278693	0.96[ASN][1000 genomes]
rs7279299	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7283433	0.96[ASN][1000 genomes]
rs73450548	0.81[ASN][1000 genomes]
rs73450552	0.81[ASN][1000 genomes]
rs8127274	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9979509	0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.80[EUR][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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2836720	NCRNA00257	cis	parietal	SCAN
rs2836720	DSCR9	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40229600-40245400	Weak transcription	Left Ventricle	heart
2	chr21:40233600-40245400	Weak transcription	Right Atrium	heart
3	chr21:40235600-40247600	Weak transcription	Spleen	Spleen
4	chr21:40241600-40246600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:40242200-40244000	Weak transcription	Thymus	Thymus
6	chr21:40242200-40246600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr21:40242200-40246600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr21:40242200-40247600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr21:40243000-40246600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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