Variant report

Variant	rs2836915
Chromosome Location	chr21:40509189-40509190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40277363..40279174-chr21:40508328..40510405,2	K562	blood:
2	chr21:40508919..40510816-chr21:40719509..40722111,2	K562	blood:
3	chr21:40177357..40179750-chr21:40506516..40509487,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205581	Chromatin interaction
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1078306	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836901	1.00[CHB][hapmap]
rs2836907	0.88[EUR][1000 genomes]
rs2836917	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836920	1.00[CHB][hapmap]
rs56113957	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv523900	chr21:40506026-40509189	Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2836915	BRWD1	cis	cerebellum	SCAN
rs2836915	BRWD1	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40504800-40509400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:40505000-40510000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr21:40507200-40509800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:40507200-40510200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:40507400-40509800	Enhancers	Spleen	Spleen
6	chr21:40507400-40510600	Enhancers	HepG2	liver
7	chr21:40508200-40509200	Weak transcription	Dnd41	blood
8	chr21:40508400-40509400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:40508400-40509600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr21:40508400-40509600	Enhancers	NHEK	skin
11	chr21:40508400-40509800	Enhancers	HMEC	breast
12	chr21:40508400-40509800	Enhancers	NHDF-Ad	bronchial
13	chr21:40508600-40509600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:40508600-40509600	Enhancers	Esophagus	oesophagus
15	chr21:40508600-40509600	Enhancers	Placenta	Placenta
16	chr21:40508600-40509600	Enhancers	Osteobl	bone
17	chr21:40508600-40509800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:40508600-40509800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr21:40508600-40509800	Enhancers	Fetal Muscle Leg	muscle
20	chr21:40508600-40509800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr21:40508600-40510000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:40508600-40510000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr21:40508600-40510000	Enhancers	A549	lung
24	chr21:40508600-40510000	Enhancers	NHLF	lung
25	chr21:40508600-40510400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr21:40508600-40510600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:40508600-40510600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr21:40508600-40510600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr21:40508600-40510600	Enhancers	Fetal Intestine Small	intestine
30	chr21:40508600-40510600	Enhancers	Hela-S3	cervix
31	chr21:40508600-40510600	Enhancers	NH-A	brain
32	chr21:40508800-40509200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr21:40508800-40509800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr21:40508800-40510000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr21:40509000-40509400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr21:40509000-40509800	Enhancers	K562	blood
37	chr21:40509000-40510600	Enhancers	Fetal Kidney	kidney

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