Variant report

Variant	rs8127986
Chromosome Location	chr21:40687211-40687212
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:40684890-40687595	K562	blood:	n/a	n/a
2	POLR2A	chr21:40684888-40687511	HepG2	liver:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40683319..40690926-chr21:40755872..40762716,23	MCF-7	breast:
2	chr2:238392237..238394703-chr21:40685639..40687456,2	MCF-7	breast:
3	chr21:40554013..40557423-chr21:40684520..40688084,3	MCF-7	breast:
4	chr21:40685228..40687774-chr21:40751832..40753804,3	K562	blood:
5	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
6	chr21:40683837..40687545-chr21:40816624..40819639,6	K562	blood:
7	chr21:40681416..40687854-chr21:40744378..40751195,8	K562	blood:
8	chr21:40683876..40687631-chr21:40749667..40753921,6	K562	blood:
9	chr21:40683271..40692626-chr21:40743960..40754349,22	MCF-7	breast:
10	chr21:40684466..40689800-chr21:40758261..40763098,10	K562	blood:
11	chr21:40683646..40687466-chr21:40813293..40816602,5	MCF-7	breast:
12	chr21:40686237..40688163-chr21:40821826..40824303,2	MCF-7	breast:
13	chr21:40682856..40693378-chr21:40754350..40765471,56	MCF-7	breast:
14	chr21:40683489..40689074-chr21:40750757..40754639,9	MCF-7	breast:
15	chr21:40684332..40690368-chr21:40756970..40764337,16	K562	blood:
16	chr21:40684444..40687629-chr3:63848425..63851169,6	MCF-7	breast:
17	chr21:40684582..40688018-chr21:40762846..40766549,4	MCF-7	breast:

No data

Variant related genes	Relation type
BRWD1-IT2	TF binding region
BRWD1-AS1	TF binding region
BRWD1	TF binding region
ENSG00000157578	Chromatin interaction
ENSG00000115648	Chromatin interaction
ENSG00000272991	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000252915	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000227406	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000163635	Chromatin interaction
ENSG00000163634	Chromatin interaction
ENSG00000238556	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1011413	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10154217	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11088470	0.82[AFR][1000 genomes]
rs11088471	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11088472	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11910705	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11910906	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11911822	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12626405	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1882779	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1888487	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1888488	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1963676	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2005933	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2037925	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2142111	0.80[AMR][1000 genomes]
rs2183573	0.86[AMR][1000 genomes]
rs2245455	0.80[AMR][1000 genomes]
rs2272576	0.81[ASN][1000 genomes]
rs2272577	0.83[ASN][1000 genomes]
rs2272578	0.83[ASN][1000 genomes]
rs2297258	0.82[ASN][1000 genomes]
rs2410123	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2410124	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836969	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2836971	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2836975	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2836980	0.82[AFR][1000 genomes]
rs2836981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2836982	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2836983	0.82[AFR][1000 genomes]
rs2836986	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2836987	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836988	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34240248	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34436313	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35182074	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35909862	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs371625	0.85[AMR][1000 genomes]
rs3746885	0.82[ASN][1000 genomes]
rs3746886	0.82[ASN][1000 genomes]
rs377098	0.85[AMR][1000 genomes]
rs414850	0.80[AMR][1000 genomes]
rs418298	0.85[AMR][1000 genomes]
rs418359	0.85[AMR][1000 genomes]
rs419469	0.84[AMR][1000 genomes]
rs428602	0.82[AMR][1000 genomes]
rs429955	0.83[AMR][1000 genomes]
rs442972	0.85[AMR][1000 genomes]
rs452377	0.85[AMR][1000 genomes]
rs4624474	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4816620	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4816623	0.86[ASN][1000 genomes]
rs4817999	0.80[AMR][1000 genomes]
rs4818005	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4818015	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4818017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4818018	0.84[AFR][1000 genomes]
rs4818019	0.81[AFR][1000 genomes]
rs61300849	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6517535	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6517540	0.83[ASN][1000 genomes]
rs6517541	0.83[ASN][1000 genomes]
rs719230	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7276774	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7278985	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7279558	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7280326	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7281853	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7282604	0.85[AMR][1000 genomes]
rs8130795	0.83[AMR][1000 genomes]
rs8130854	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8133928	0.82[AFR][1000 genomes]
rs9636957	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs997147	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9974757	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9975119	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9975562	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9975614	0.81[ASN][1000 genomes]
rs9978775	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9979483	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9981301	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9981656	0.86[ASN][1000 genomes]
rs9982111	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv3429298	chr21:40670131-40688774	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	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
5	esv3439649	chr21:40683507-40687455	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8127986	PSMG1	cis	Skin Sun Exposed Lower leg	GTEx
rs8127986	PSMG1	cis	lung	GTEx
rs8127986	PSMG1	cis	Esophagus Mucosa	GTEx
rs8127986	PSMG1	cis	Artery Tibial	GTEx
rs8127986	BRWD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40686600-40688200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr21:40686600-40691400	Enhancers	Primary B cells from peripheral blood	blood
3	chr21:40686800-40687400	Enhancers	Fetal Muscle Trunk	muscle
4	chr21:40686800-40687800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr21:40686800-40687800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:40686800-40687800	Weak transcription	Primary T cells from cord blood	blood
7	chr21:40686800-40687800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr21:40686800-40687800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr21:40686800-40687800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr21:40686800-40688000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr21:40686800-40688200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr21:40686800-40688800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr21:40686800-40689200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr21:40686800-40689200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr21:40686800-40689200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr21:40686800-40689400	Weak transcription	Gastric	stomach
17	chr21:40686800-40689400	Weak transcription	Left Ventricle	heart
18	chr21:40686800-40689600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr21:40686800-40689800	Enhancers	NHEK	skin
20	chr21:40686800-40690600	Weak transcription	Psoas Muscle	Psoas
21	chr21:40686800-40691200	Weak transcription	Right Ventricle	heart
22	chr21:40686800-40691800	Weak transcription	Right Atrium	heart
23	chr21:40686800-40692200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:40687000-40687400	Weak transcription	HSMMtube	muscle
25	chr21:40687000-40687600	Enhancers	Fetal Thymus	thymus
26	chr21:40687000-40687600	Weak transcription	A549	lung
27	chr21:40687000-40687800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr21:40687000-40688000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr21:40687000-40688000	Enhancers	GM12878-XiMat	blood
30	chr21:40687000-40688400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr21:40687000-40688600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr21:40687000-40688800	Enhancers	HSMM	muscle
33	chr21:40687000-40689000	Weak transcription	Liver	Liver
34	chr21:40687000-40689000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr21:40687000-40689000	Weak transcription	Stomach Mucosa	stomach
36	chr21:40687000-40689000	Weak transcription	HepG2	liver
37	chr21:40687000-40689200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr21:40687000-40689200	Enhancers	K562	blood
39	chr21:40687000-40689600	Weak transcription	Primary B cells from cord blood	blood
40	chr21:40687000-40689600	Weak transcription	Fetal Lung	lung
41	chr21:40687000-40689800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr21:40687000-40689800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr21:40687000-40689800	Enhancers	HMEC	breast
44	chr21:40687000-40690400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:40687000-40690600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr21:40687000-40690600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr21:40687000-40690800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr21:40687000-40691000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr21:40687000-40691000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr21:40687000-40691000	Weak transcription	Adipose Nuclei	Adipose

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