Variant report

Variant	rs437398
Chromosome Location	chr21:40492859-40492860
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	chr21:40486081..40488912-chr21:40489931..40493675,3	K562	blood:
2	chr21:40422600..40424974-chr21:40491663..40494266,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1013128	0.95[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.95[MKK][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1013130	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1235438	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1810385	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2178836	0.95[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MKK][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs438649	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs454349	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941383	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[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	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
2	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
3	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
rs437398	BRWD1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40478600-40497000	Weak transcription	Right Atrium	heart
2	chr21:40486600-40497800	Weak transcription	Thymus	Thymus
3	chr21:40487200-40496400	Weak transcription	Aorta	Aorta
4	chr21:40487200-40497600	Weak transcription	Colonic Mucosa	Colon
5	chr21:40487600-40493000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:40487800-40493000	Weak transcription	Psoas Muscle	Psoas
7	chr21:40487800-40497600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr21:40488000-40493000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:40488200-40493400	Weak transcription	Lung	lung
10	chr21:40490800-40493000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:40490800-40493400	Weak transcription	Spleen	Spleen
12	chr21:40491600-40494400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr21:40491800-40493000	Enhancers	Placenta	Placenta
14	chr21:40491800-40493600	Enhancers	Dnd41	blood
15	chr21:40492200-40493200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:40492200-40493600	Weak transcription	Esophagus	oesophagus
17	chr21:40492200-40493600	Weak transcription	NH-A	brain
18	chr21:40492400-40493400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:40492600-40494200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr21:40492800-40493200	Enhancers	Fetal Heart	heart
21	chr21:40492800-40493200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr21:40492800-40494400	Enhancers	Skeletal Muscle Female	skeletal muscle

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