Variant report

Variant	rs2836986
Chromosome Location	chr21:40702136-40702137
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40696801..40699302-chr21:40699637..40702550,2	K562	blood:
2	21:40553066-40557191..21:40702099-40712819	K562	blood:
3	chr21:40699788..40702624-chr21:40715350..40718145,2	K562	blood:
4	chr21:40693090..40695727-chr21:40701120..40703324,2	K562	blood:
5	chr21:40696329..40702419-chr21:40706472..40712889,11	K562	blood:
6	chr21:40685395..40687495-chr21:40701399..40702903,2	K562	blood:
7	21:40702099-40712819..21:40757151-40764378	K562	blood:

Variant related genes	Relation type
ENSG00000255568	Chromatin interaction
ENSG00000238556	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000252915	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000185658	Chromatin interaction
ENSG00000272991	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1011413	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10154217	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11088471	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11088472	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11910705	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11910906	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11911822	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12482181	0.96[YRI][hapmap]
rs12626405	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13625	0.96[YRI][hapmap]
rs14194	0.96[YRI][hapmap]
rs1541102	0.96[YRI][hapmap]
rs1882779	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1888487	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1888488	0.96[CEU][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1963676	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1984022	0.93[YRI][hapmap]
rs2005933	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2026265	0.93[YRI][hapmap]
rs2037925	0.96[CEU][hapmap];0.89[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2070867	0.81[ASN][1000 genomes]
rs2142111	0.93[CEU][hapmap]
rs2150413	0.85[YRI][hapmap]
rs2150414	0.85[YRI][hapmap]
rs2150415	0.95[YRI][hapmap]
rs2183573	0.96[CEU][hapmap];0.83[AMR][1000 genomes]
rs2234543	0.96[YRI][hapmap]
rs2245455	0.92[CEU][hapmap]
rs2410123	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2410124	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2776310	0.81[ASN][1000 genomes]
rs2836925	0.96[YRI][hapmap]
rs2836929	0.96[YRI][hapmap]
rs2836932	0.96[YRI][hapmap]
rs2836933	0.93[YRI][hapmap]
rs2836956	0.85[YRI][hapmap]
rs2836957	0.93[YRI][hapmap]
rs2836958	0.85[YRI][hapmap]
rs2836964	0.96[YRI][hapmap]
rs2836965	0.96[YRI][hapmap]
rs2836967	0.93[YRI][hapmap]
rs2836968	0.96[YRI][hapmap]
rs2836969	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2836971	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2836974	0.96[YRI][hapmap]
rs2836975	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2836981	1.00[CEU][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2836982	1.00[CEU][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836985	0.82[YRI][hapmap]
rs2836987	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2836988	1.00[CEU][hapmap];0.89[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34240248	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34436313	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35182074	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35909862	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs371625	0.81[AMR][1000 genomes]
rs377098	0.93[CEU][hapmap];0.81[AMR][1000 genomes]
rs418298	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs418359	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs419469	0.92[CEU][hapmap];0.83[AMR][1000 genomes]
rs428602	0.93[CEU][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes]
rs442972	0.81[AMR][1000 genomes]
rs452377	0.81[AMR][1000 genomes]
rs4624474	1.00[CEU][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4816620	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4818005	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4818015	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818017	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61300849	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6517519	0.96[YRI][hapmap]
rs6517523	0.96[YRI][hapmap]
rs6517526	0.96[YRI][hapmap]
rs6517535	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6517538	0.96[YRI][hapmap]
rs719230	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs726046	0.81[ASN][1000 genomes]
rs7276774	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7277978	0.87[AFR][1000 genomes]
rs7278297	0.83[YRI][hapmap]
rs7278985	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7279558	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7280326	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7280375	0.96[YRI][hapmap]
rs7281853	1.00[CEU][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7282604	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs7283516	0.93[YRI][hapmap]
rs8127087	0.93[YRI][hapmap]
rs8127986	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8128026	0.91[YRI][hapmap]
rs8128102	0.86[YRI][hapmap]
rs8130099	0.81[ASN][1000 genomes]
rs8130795	0.81[AMR][1000 genomes]
rs8130854	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8130984	0.92[YRI][hapmap]
rs8131150	0.81[ASN][1000 genomes]
rs8132285	0.93[YRI][hapmap]
rs9636957	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs997147	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9974757	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9975119	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9975562	0.82[EUR][1000 genomes]
rs9978775	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9979483	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9981301	1.00[CEU][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9982111	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[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	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	nsv587482	chr21:40684427-40706594	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	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:12)

SNP	Gene	Cis/trans	Tissue	Source
rs2836986	PSMG1	cis	Skin Sun Exposed Lower leg	GTEx
rs2836986	C21orf107	cis	multi-tissue	Pritchard
rs2836986	BRWD1	cis	Cerebellum	GTEx
rs2836986	DSCR2	cis	normal skin	skin_eQTL
rs2836986	PSMG1	cis	lung	GTEx
rs2836986	PSMG1	cis	Artery Tibial	GTEx
rs2836986	BRWD1	cis	Frontal Cortex	GTEx
rs2836986	DSCR2	cis	lesional skin	skin_eQTL
rs2836986	BRWD1	cis	Brain Pons	GTEx
rs2836986	PSMG1	cis	Esophagus Mucosa	GTEx
rs2836986	BRWD1	cis	Temporal Cortex	GTEx
rs2836986	BRWD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40692400-40718400	Weak transcription	Right Atrium	heart
2	chr21:40699200-40704200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:40699200-40712600	Weak transcription	Fetal Muscle Leg	muscle
4	chr21:40699400-40703800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr21:40699400-40703800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr21:40699400-40703800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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