Variant report

Variant	rs28494168
Chromosome Location	chr21:40707759-40707760
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	21:40553066-40557191..21:40702099-40712819	K562	blood:
2	chr21:40681057..40687929-chr21:40707012..40715318,11	K562	blood:
3	chr21:40692981..40695530-chr21:40706938..40709803,5	K562	blood:
4	chr21:40696329..40702419-chr21:40706472..40712889,11	K562	blood:
5	21:40702099-40712819..21:40757151-40764378	K562	blood:

Variant related genes	Relation type
ENSG00000272991	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000238141	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000185658	Chromatin interaction
ENSG00000182093	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10154073	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12329720	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12329767	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2070866	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2178838	0.81[EUR][1000 genomes]
rs2836970	0.81[EUR][1000 genomes]
rs2836976	0.85[EUR][1000 genomes]
rs2836978	0.87[EUR][1000 genomes]
rs2836979	0.87[EUR][1000 genomes]
rs28460573	0.87[EUR][1000 genomes]
rs28542479	0.87[EUR][1000 genomes]
rs28580194	0.87[EUR][1000 genomes]
rs28590100	0.87[EUR][1000 genomes]
rs28665841	0.81[EUR][1000 genomes]
rs28684434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28693867	0.81[EUR][1000 genomes]
rs4818020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4818026	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8130083	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9284464	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9305673	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs997146	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9974266	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9975256	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9975728	0.87[EUR][1000 genomes]
rs9975937	0.87[EUR][1000 genomes]
rs9976346	0.84[EUR][1000 genomes]
rs9979571	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9979691	0.87[EUR][1000 genomes]
rs9979936	0.81[EUR][1000 genomes]
rs9981349	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9981527	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9982825	0.87[EUR][1000 genomes]
rs9982870	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9984922	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9985067	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9985148	0.81[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	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv587483	chr21:40686327-40718161	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28494168	BRWD1	cis	multi-tissue	Pritchard
rs28494168	BRWD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40692400-40718400	Weak transcription	Right Atrium	heart
2	chr21:40699200-40712600	Weak transcription	Fetal Muscle Leg	muscle
3	chr21:40704000-40719600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:40704200-40712800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr21:40704200-40712800	Weak transcription	A549	lung
6	chr21:40704200-40713200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:40704400-40712200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr21:40704400-40712600	Weak transcription	Fetal Intestine Large	intestine
9	chr21:40704400-40712800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:40704400-40713000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr21:40704400-40713000	Weak transcription	Fetal Intestine Small	intestine
12	chr21:40704400-40713200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr21:40704400-40713400	Weak transcription	Hela-S3	cervix
14	chr21:40704400-40715000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr21:40704400-40715200	Weak transcription	Spleen	Spleen
16	chr21:40704600-40708400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr21:40704600-40712600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr21:40704600-40712600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr21:40704600-40712600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr21:40704600-40712600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr21:40704600-40712800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr21:40704600-40712800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:40704600-40712800	Weak transcription	Left Ventricle	heart
24	chr21:40704600-40712800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr21:40704600-40713200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr21:40704600-40713200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr21:40704600-40713800	Weak transcription	Ovary	ovary
28	chr21:40704600-40717200	Weak transcription	Right Ventricle	heart
29	chr21:40704600-40719600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:40704800-40708600	Weak transcription	Placenta	Placenta
31	chr21:40704800-40708600	Weak transcription	HepG2	liver
32	chr21:40704800-40712800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr21:40704800-40715200	Weak transcription	Fetal Heart	heart
34	chr21:40705000-40713000	Weak transcription	K562	blood
35	chr21:40705400-40712600	Weak transcription	Brain Cingulate Gyrus	brain

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