Variant report

Variant	rs377098
Chromosome Location	chr21:40535216-40535217
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	21:40535091-40537322..21:40757151-40764378	GM12878	blood:
2	chr21:40534165..40535802-chr21:40542225..40544410,2	MCF-7	breast:
3	chr21:40530945..40533694-chr21:40534297..40536978,4	K562	blood:
4	chr21:40534864..40537337-chr21:40540303..40542416,2	K562	blood:

Variant related genes	Relation type
ENSG00000182093	Chromatin interaction
ENSG00000235701	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1011413	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11088471	0.90[CEU][hapmap];0.81[AMR][1000 genomes]
rs11088472	0.81[AMR][1000 genomes]
rs11910705	0.80[AMR][1000 genomes]
rs11911112	0.80[AFR][1000 genomes]
rs11911149	0.82[AFR][1000 genomes]
rs11911822	0.96[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12626405	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13050247	0.82[ASN][1000 genomes]
rs1571709	0.90[YRI][hapmap];0.80[AFR][1000 genomes]
rs1888487	0.85[AMR][1000 genomes]
rs1888488	0.88[CEU][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes]
rs1980407	0.84[AFR][1000 genomes]
rs2037925	0.88[CEU][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes]
rs2142111	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2150411	1.00[YRI][hapmap]
rs2183573	0.96[CEU][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2245455	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2410123	0.92[CEU][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes]
rs2410124	0.81[AMR][1000 genomes]
rs2836924	0.82[AFR][1000 genomes]
rs2836930	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2836931	1.00[YRI][hapmap]
rs2836959	0.96[YRI][hapmap]
rs2836969	1.00[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2836971	0.91[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2836975	0.96[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2836980	0.89[YRI][hapmap]
rs2836981	0.92[CEU][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes]
rs2836982	0.92[CEU][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes]
rs2836983	0.90[YRI][hapmap]
rs2836986	0.93[CEU][hapmap];0.81[AMR][1000 genomes]
rs2836987	0.92[CEU][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes]
rs2836988	0.92[CEU][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes]
rs34240248	0.82[AMR][1000 genomes]
rs34436313	0.82[AMR][1000 genomes]
rs35909862	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs371625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs383967	0.82[ASN][1000 genomes]
rs391062	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs413078	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs414850	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs418298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs418359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs419469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs425988	0.82[ASN][1000 genomes]
rs428602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs429955	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs442972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs444130	0.82[ASN][1000 genomes]
rs452377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs452776	0.82[ASN][1000 genomes]
rs4624474	0.92[CEU][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes]
rs4816620	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4817996	0.82[AFR][1000 genomes]
rs4817999	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4818001	1.00[YRI][hapmap]
rs4818005	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4818015	0.96[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4818017	0.85[AMR][1000 genomes]
rs61300849	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6517513	0.82[AFR][1000 genomes]
rs6517514	0.82[AFR][1000 genomes]
rs6517520	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs6517522	0.90[YRI][hapmap]
rs6517535	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6650847	0.82[ASN][1000 genomes]
rs66519408	0.82[ASN][1000 genomes]
rs66746936	0.82[ASN][1000 genomes]
rs67212994	0.82[ASN][1000 genomes]
rs67649754	0.82[ASN][1000 genomes]
rs68090597	0.85[AFR][1000 genomes]
rs68114370	0.82[ASN][1000 genomes]
rs719230	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7276774	1.00[CEU][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7278985	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7280326	0.80[AMR][1000 genomes]
rs7281853	0.92[CEU][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes]
rs7282604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8127986	0.85[AMR][1000 genomes]
rs8128191	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs8130240	0.85[AFR][1000 genomes]
rs8130795	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8130854	0.83[AMR][1000 genomes]
rs8132143	1.00[YRI][hapmap]
rs8132295	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs8132333	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs8132419	0.82[AFR][1000 genomes]
rs8132424	1.00[YRI][hapmap]
rs8132568	0.81[AFR][1000 genomes]
rs8134214	0.85[AFR][1000 genomes]
rs9636957	0.83[AMR][1000 genomes]
rs997147	0.85[AMR][1000 genomes]
rs9974757	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9978775	0.85[AMR][1000 genomes]
rs9981301	0.92[CEU][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes]
rs9982111	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9982122	0.85[CHB][hapmap];0.82[ASN][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	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
2	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:14)

SNP	Gene	Cis/trans	Tissue	Source
rs377098	BRWD1	cis	Brain Pons	GTEx
rs377098	DSCR2	cis	lesional skin	skin_eQTL
rs377098	BRWD1	cis	Lymphoblastoid	GTEx
rs377098	PSMG1	cis	Artery Tibial	GTEx
rs377098	BRWD1	cis	Frontal Cortex	GTEx
rs377098	C21orf107	cis	multi-tissue	Pritchard
rs377098	BRWD1	cis	Temporal Cortex	GTEx
rs377098	PSMG1	cis	Nerve Tibial	GTEx
rs377098	BRWD1	Cis_1M	lymphoblastoid	RTeQTL
rs377098	PSMG1	cis	Esophagus Mucosa	GTEx
rs377098	PSMG1	cis	lung	GTEx
rs377098	DSCR2	cis	normal skin	skin_eQTL
rs377098	PSMG1	cis	Skin Sun Exposed Lower leg	GTEx
rs377098	BRWD1	cis	Cerebellum	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40533600-40545400	Weak transcription	HUVEC	blood vessel

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