Variant report

Variant	rs465214
Chromosome Location	chr21:40232434-40232435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40227171..40228878-chr21:40230837..40233170,2	K562	blood:
2	chr21:40227996..40231150-chr21:40232050..40235725,3	MCF-7	breast:
3	chr21:40227190..40230655-chr21:40232406..40235410,3	K562	blood:
4	chr21:40177576..40179439-chr21:40231925..40234002,2	MCF-7	breast:
5	chr21:40231386..40233733-chr21:40237311..40239746,2	K562	blood:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs17230954	0.83[CEU][hapmap];0.82[LWK][hapmap]
rs17230961	0.91[CEU][hapmap]
rs1734596	0.89[ASN][1000 genomes]
rs2410062	0.91[CEU][hapmap]
rs2836731	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2836734	1.00[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2836738	0.87[ASN][1000 genomes]
rs2836739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2836741	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs425931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs455426	0.90[JPT][hapmap]
rs455505	0.85[AFR][1000 genomes]
rs456489	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs456508	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs458748	0.90[JPT][hapmap]
rs458885	0.87[ASN][1000 genomes]
rs458933	0.87[ASN][1000 genomes]
rs463032	0.90[JPT][hapmap];0.85[AFR][1000 genomes]
rs465189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs465612	0.87[ASN][1000 genomes]
rs467872	0.87[ASN][1000 genomes]
rs468641	0.87[ASN][1000 genomes]
rs468708	0.87[ASN][1000 genomes]
rs468939	0.87[ASN][1000 genomes]
rs469190	0.87[ASN][1000 genomes]
rs469221	0.90[ASN][1000 genomes]
rs469242	0.87[ASN][1000 genomes]
rs469495	0.87[ASN][1000 genomes]
rs469589	0.87[ASN][1000 genomes]
rs62217841	0.86[ASN][1000 genomes]
rs7279299	0.83[CEU][hapmap]
rs7283582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9983650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[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	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
rs465214	MX1	cis	cerebellum	SCAN
rs465214	NCRNA00257	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40225800-40234400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:40226000-40233600	Weak transcription	Spleen	Spleen
3	chr21:40226000-40242200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:40226200-40232800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:40229000-40235000	Enhancers	Fetal Thymus	thymus
6	chr21:40229000-40235000	Enhancers	Dnd41	blood
7	chr21:40229200-40236400	Enhancers	Thymus	Thymus
8	chr21:40229400-40233000	Weak transcription	Right Atrium	heart
9	chr21:40229600-40232800	Weak transcription	Right Ventricle	heart
10	chr21:40229600-40245400	Weak transcription	Left Ventricle	heart
11	chr21:40231600-40236200	Enhancers	Fetal Muscle Trunk	muscle
12	chr21:40232000-40232800	Enhancers	HMEC	breast
13	chr21:40232000-40233800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr21:40232200-40232600	Enhancers	HepG2	liver
15	chr21:40232200-40233800	Enhancers	Fetal Lung	lung
16	chr21:40232400-40232800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:40232400-40232800	Weak transcription	Fetal Muscle Leg	muscle
18	chr21:40232400-40233600	Enhancers	Brain Germinal Matrix	brain
19	chr21:40232400-40233600	Enhancers	Fetal Heart	heart
20	chr21:40232400-40233800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr21:40232400-40235200	Enhancers	Primary hematopoietic stem cells	blood
22	chr21:40232400-40237200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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