Variant report

Variant	rs7221483
Chromosome Location	chr17:20939169-20939170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20930469..20933824-chr17:20936944..20940043,3	MCF-7	breast:
2	chr17:20932232..20934940-chr17:20938795..20941578,2	MCF-7	breast:
3	chr17:20934273..20942906-chr17:20943761..20949798,22	MCF-7	breast:
4	chr17:20936833..20939628-chr17:20939684..20941380,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124422	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1038107	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1038109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1044410	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1044414	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1044420	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11204330	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1127815	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12103803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12150138	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12600604	0.82[EUR][1000 genomes]
rs1904230	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1993901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2009756	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2127094	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291037	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2364327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2364328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2364329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2364330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2364331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2364332	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2364333	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3612	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3816664	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3943299	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4462662	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4613123	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985813	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4985820	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985824	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4985941	0.80[EUR][1000 genomes]
rs4985948	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4985949	0.88[AMR][1000 genomes]
rs4985952	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4985953	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4985954	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4985955	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4985957	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4985962	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4985964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4985973	0.81[AMR][1000 genomes]
rs4985974	0.82[AMR][1000 genomes]
rs5005801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6587109	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6587111	0.81[AFR][1000 genomes]
rs6587115	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71371043	0.90[ASN][1000 genomes]
rs7207724	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7207753	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7208779	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7213684	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7215369	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7216090	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7216449	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7216786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7216978	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7218112	0.81[EUR][1000 genomes]
rs7218443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7219244	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7221757	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7224746	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7226229	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8064435	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8076078	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8077998	0.84[ASN][1000 genomes]
rs899335	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs899336	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs899338	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs899341	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs899342	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs961004	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9797279	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9894624	0.87[ASN][1000 genomes]
rs9895047	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9896259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9896301	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9898265	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9902303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs996065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[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	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv827917	chr17:20896100-20961777	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7221483	USP22	Cis_1M	lymphoblastoid	RTeQTL
rs7221483	USP22	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20903400-20940000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:20923000-20943800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:20931800-20940200	Enhancers	Brain Cingulate Gyrus	brain
4	chr17:20932200-20941400	Genic enhancers	A549	lung
5	chr17:20932600-20940400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:20932800-20941800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr17:20934000-20942800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:20934000-20943200	Weak transcription	Esophagus	oesophagus
9	chr17:20934600-20940000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr17:20935000-20940600	Enhancers	Left Ventricle	heart
11	chr17:20935000-20941000	Enhancers	Right Ventricle	heart
12	chr17:20935200-20943800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr17:20935400-20939200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:20935600-20940000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr17:20935600-20940200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:20935600-20942200	Enhancers	Fetal Brain Male	brain
17	chr17:20935800-20939400	Enhancers	Fetal Lung	lung
18	chr17:20935800-20940600	Enhancers	Fetal Heart	heart
19	chr17:20936000-20939600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:20936200-20941600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:20936400-20939600	Enhancers	K562	blood
22	chr17:20936400-20939800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr17:20936400-20940800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr17:20936600-20941000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr17:20936600-20941200	Genic enhancers	HUVEC	blood vessel
26	chr17:20936800-20939400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
27	chr17:20936800-20939800	Enhancers	HepG2	liver
28	chr17:20936800-20941800	Genic enhancers	NHEK	skin
29	chr17:20936800-20942000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:20936800-20943800	Enhancers	Liver	Liver
31	chr17:20937000-20939600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr17:20937000-20940200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr17:20937400-20939200	Flanking Active TSS	GM12878-XiMat	blood
34	chr17:20937400-20939400	Genic enhancers	Dnd41	blood
35	chr17:20937400-20939800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:20937400-20941200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:20937400-20941200	Enhancers	Colonic Mucosa	Colon
38	chr17:20937600-20939600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr17:20937600-20941400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr17:20937600-20942000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
41	chr17:20937800-20940000	Enhancers	Fetal Kidney	kidney
42	chr17:20937800-20940200	Enhancers	Duodenum Mucosa	Duodenum
43	chr17:20937800-20940600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr17:20938000-20939400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr17:20938000-20939400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr17:20938000-20939400	Weak transcription	Gastric	stomach
47	chr17:20938000-20940000	Weak transcription	Fetal Intestine Small	intestine
48	chr17:20938000-20940200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr17:20938000-20940200	Enhancers	Fetal Thymus	thymus
50	chr17:20938000-20940400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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