Variant report

Variant	rs68004583
Chromosome Location	chr21:40659587-40659588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40651059..40652643-chr21:40657683..40660235,2	MCF-7	breast:
2	chr21:40657367..40661243-chr21:40682773..40686653,4	MCF-7	breast:
3	chr21:40658176..40660368-chr21:40662775..40665528,2	MCF-7	breast:
4	chr21:40657853..40663062-chr21:40682568..40687952,7	MCF-7	breast:
5	chr21:40658563..40660447-chr21:40754339..40756006,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255568	Chromatin interaction
ENSG00000238141	Chromatin interaction
ENSG00000185658	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1041440	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10427502	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1065242	0.85[AMR][1000 genomes]
rs11910151	0.81[AMR][1000 genomes]
rs12151994	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12481860	0.84[AMR][1000 genomes]
rs12482181	0.81[AMR][1000 genomes]
rs12483216	0.84[AMR][1000 genomes]
rs12710453	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12710454	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13047663	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13047678	0.84[EUR][1000 genomes]
rs13048178	0.83[AMR][1000 genomes]
rs13049280	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13052882	0.82[AMR][1000 genomes]
rs13339986	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13625	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs14194	0.81[AMR][1000 genomes]
rs1541102	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571709	0.81[AMR][1000 genomes]
rs1984022	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2026265	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2026267	0.87[AMR][1000 genomes]
rs2150415	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2234543	0.83[AMR][1000 genomes]
rs2735306	0.87[AMR][1000 genomes]
rs2735309	0.87[AMR][1000 genomes]
rs2776307	0.87[AMR][1000 genomes]
rs2776308	0.87[AMR][1000 genomes]
rs2776309	0.87[AMR][1000 genomes]
rs28360661	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836923	0.80[AMR][1000 genomes]
rs2836925	0.84[AMR][1000 genomes]
rs2836927	0.84[AMR][1000 genomes]
rs2836929	0.83[AMR][1000 genomes]
rs2836932	0.82[AMR][1000 genomes]
rs2836933	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2836938	0.86[AMR][1000 genomes]
rs2836944	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836953	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2836955	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836957	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836964	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836965	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836967	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836968	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836972	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836973	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836974	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836977	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34035316	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34294410	0.85[AMR][1000 genomes]
rs34433511	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34578707	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34672724	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34978594	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35068861	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35123057	0.87[AMR][1000 genomes]
rs35386515	0.83[AMR][1000 genomes]
rs35560196	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35571600	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35774464	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36113648	0.83[AMR][1000 genomes]
rs3945	0.81[EUR][1000 genomes]
rs55836299	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56049536	0.83[AMR][1000 genomes]
rs56306759	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6517519	0.84[AMR][1000 genomes]
rs6517521	0.81[AMR][1000 genomes]
rs6517523	0.84[AMR][1000 genomes]
rs6517526	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6517527	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6517533	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517538	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66465538	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68090597	0.87[AMR][1000 genomes]
rs7277978	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7280375	0.82[AMR][1000 genomes]
rs7282624	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7283420	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7283516	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7283569	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221174	0.81[AMR][1000 genomes]
rs73221193	0.82[AMR][1000 genomes]
rs7354783	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8127087	0.83[AMR][1000 genomes]
rs8128026	0.86[AMR][1000 genomes]
rs8128102	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8128620	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128734	0.83[AMR][1000 genomes]
rs8128827	0.87[AMR][1000 genomes]
rs8128894	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8129147	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8129303	0.87[AMR][1000 genomes]
rs8129355	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8129416	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8130984	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8131965	0.87[AMR][1000 genomes]
rs8133146	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8134733	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9941894	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv1056683	chr21:40570023-40673210	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	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
3	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs68004583	PSMG1	cis	Artery Tibial	GTEx
rs68004583	PSMG1	cis	Muscle Skeletal	GTEx
rs68004583	PSMG1	cis	Skin Sun Exposed Lower leg	GTEx
rs68004583	PSMG1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40563400-40660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:40608400-40667200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:40619600-40660200	Weak transcription	Brain Angular Gyrus	brain
4	chr21:40630200-40661600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:40630200-40662800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:40631200-40663600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr21:40633200-40662800	Weak transcription	Esophagus	oesophagus
8	chr21:40638200-40665000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr21:40638600-40659800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:40638600-40663400	Weak transcription	Gastric	stomach
11	chr21:40638600-40663400	Weak transcription	Psoas Muscle	Psoas
12	chr21:40638600-40665600	Weak transcription	Spleen	Spleen
13	chr21:40639000-40662600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr21:40639000-40663400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr21:40639200-40659600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr21:40641000-40661400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr21:40641400-40683800	Strong transcription	Placenta	Placenta
18	chr21:40643000-40662800	Weak transcription	NHLF	lung
19	chr21:40643400-40662800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr21:40643400-40662800	Weak transcription	Brain Hippocampus Middle	brain
21	chr21:40643600-40663600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr21:40643800-40684200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:40646400-40662600	Weak transcription	Small Intestine	intestine
24	chr21:40646600-40659800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr21:40646600-40662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr21:40646600-40683400	Weak transcription	Fetal Brain Male	brain
27	chr21:40647000-40659600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr21:40647400-40663600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr21:40650000-40659800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr21:40650200-40663400	Weak transcription	Right Ventricle	heart
31	chr21:40650200-40671600	Weak transcription	Aorta	Aorta
32	chr21:40650400-40659800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr21:40650400-40659800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr21:40650600-40659600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr21:40650600-40659800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr21:40650600-40660800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr21:40650600-40662400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr21:40650800-40660000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr21:40651000-40659800	Weak transcription	Thymus	Thymus
40	chr21:40651000-40659800	Weak transcription	NH-A	brain
41	chr21:40651400-40662400	Weak transcription	Lung	lung
42	chr21:40651400-40671600	Weak transcription	Pancreas	Pancrea
43	chr21:40651800-40659800	Weak transcription	Osteobl	bone
44	chr21:40652400-40660000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr21:40653600-40659800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr21:40653800-40659600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr21:40653800-40659800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr21:40653800-40659800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr21:40653800-40662000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr21:40654600-40662400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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