Variant report

Variant	rs464366
Chromosome Location	chr21:40225071-40225072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40224619..40227702-chr21:40232966..40234903,3	MCF-7	breast:
2	chr21:40223431..40225086-chr21:40277290..40280274,2	MCF-7	breast:
3	chr21:40218988..40223370-chr21:40223471..40227627,7	K562	blood:
4	chr21:40221988..40225135-chr21:40277085..40280385,3	MCF-7	breast:
5	chr21:40183745..40185634-chr21:40221836..40225935,3	K562	blood:
6	chr21:40211369..40213824-chr21:40223080..40225148,2	K562	blood:
7	chr21:40175995..40178465-chr21:40223341..40225406,3	K562	blood:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1009122	0.82[EUR][1000 genomes]
rs1009123	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11700716	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13047489	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13047716	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13048664	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1534827	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1882734	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1893203	0.82[EUR][1000 genomes]
rs1893204	0.82[EUR][1000 genomes]
rs2015748	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2836697	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2836700	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2836703	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs374575	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs455328	0.85[CEU][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs455426	0.83[GIH][hapmap]
rs456574	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs464476	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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs465657	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs468057	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55938987	0.82[EUR][1000 genomes]
rs7276433	0.82[EUR][1000 genomes]
rs7279430	0.86[JPT][hapmap]
rs7281107	0.82[EUR][1000 genomes]
rs7281192	0.82[EUR][1000 genomes]
rs7281242	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs7281259	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs7281698	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs877372	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs909103	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.92[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs464366	DSCAM	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
2	chr21:40203800-40225200	Weak transcription	Psoas Muscle	Psoas
3	chr21:40219800-40225200	Weak transcription	Osteobl	bone
4	chr21:40219800-40229000	Weak transcription	Right Atrium	heart
5	chr21:40220400-40225200	Weak transcription	NHDF-Ad	bronchial
6	chr21:40220400-40229000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr21:40221200-40226400	Enhancers	HUVEC	blood vessel
8	chr21:40221200-40229000	Weak transcription	Left Ventricle	heart
9	chr21:40221400-40225200	Weak transcription	Spleen	Spleen
10	chr21:40222400-40225200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:40222400-40225200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr21:40222400-40225600	Weak transcription	Fetal Muscle Leg	muscle
13	chr21:40222400-40228200	Weak transcription	Fetal Heart	heart
14	chr21:40222800-40226200	Enhancers	K562	blood
15	chr21:40223200-40226400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr21:40223200-40226600	Enhancers	Hela-S3	cervix
17	chr21:40223400-40226400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr21:40223400-40226400	Enhancers	NHEK	skin
19	chr21:40223600-40226000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:40223600-40226200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr21:40223800-40225400	Weak transcription	Dnd41	blood
22	chr21:40224000-40226200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr21:40224400-40225800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:40224400-40226000	Enhancers	NHLF	lung
25	chr21:40224400-40226200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr21:40224400-40226400	Enhancers	HMEC	breast
27	chr21:40224600-40225600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr21:40224600-40225800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr21:40224600-40225800	Enhancers	HepG2	liver
30	chr21:40224800-40225200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr21:40224800-40225600	Weak transcription	Esophagus	oesophagus
32	chr21:40224800-40226200	Enhancers	A549	lung
33	chr21:40225000-40226200	Enhancers	NH-A	brain

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