Variant report

Variant	rs4985957
Chromosome Location	chr17:20906257-20906258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20901201..20904612-chr17:20905901..20908917,4	MCF-7	breast:
2	chr17:20896404..20898523-chr17:20904680..20906876,2	K562	blood:

Variant related genes	Relation type
ENSG00000263986	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1038107	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1038109	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1044410	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1044414	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1044420	0.86[ASN][1000 genomes]
rs11204330	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1127815	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12103803	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1904230	0.86[AMR][1000 genomes]
rs1993901	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2009756	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2127094	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2291036	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2291037	0.85[AMR][1000 genomes]
rs2364327	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2364328	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2364329	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2364330	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2364331	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2364332	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2364333	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3612	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3816664	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3943299	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4613123	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985813	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4985820	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985824	0.85[AMR][1000 genomes]
rs4985949	0.81[AMR][1000 genomes]
rs4985952	0.81[AMR][1000 genomes]
rs4985953	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4985954	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4985955	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4985962	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4985964	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5005801	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6587109	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7207724	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7207753	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7208779	0.86[AMR][1000 genomes]
rs7213684	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7215369	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7216449	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7216786	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7216978	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7218443	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7219244	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7221483	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7221757	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7224746	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7226229	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8064435	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs899335	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs899336	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs899338	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs899341	0.89[AMR][1000 genomes]
rs9797279	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9895047	0.82[ASN][1000 genomes]
rs9896259	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9896301	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9898265	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9902303	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs996065	0.83[AFR][1000 genomes];0.90[AMR][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	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4985957	USP22	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20896600-20906800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:20899200-20908600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:20900200-20924000	Strong transcription	Fetal Stomach	stomach
4	chr17:20900600-20907000	Genic enhancers	Fetal Muscle Trunk	muscle
5	chr17:20900600-20932400	Strong transcription	Fetal Intestine Small	intestine
6	chr17:20900800-20925600	Strong transcription	Fetal Brain Female	brain
7	chr17:20900800-20932200	Strong transcription	Brain Germinal Matrix	brain
8	chr17:20901400-20912200	Strong transcription	Primary B cells from cord blood	blood
9	chr17:20901400-20925200	Strong transcription	Fetal Lung	lung
10	chr17:20901400-20932600	Strong transcription	Thymus	Thymus
11	chr17:20901400-20937000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr17:20901600-20908800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:20901800-20908600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:20901800-20908600	Strong transcription	HUVEC	blood vessel
15	chr17:20901800-20929400	Strong transcription	GM12878-XiMat	blood
16	chr17:20901800-20932000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr17:20901800-20932000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr17:20901800-20932400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr17:20901800-20936800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:20902000-20925200	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr17:20902000-20932600	Strong transcription	Fetal Intestine Large	intestine
22	chr17:20902000-20935400	Strong transcription	Dnd41	blood
23	chr17:20902200-20906600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:20902200-20907400	Genic enhancers	NHLF	lung
25	chr17:20902200-20918600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr17:20902200-20925200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr17:20902200-20932400	Strong transcription	Fetal Thymus	thymus
28	chr17:20902200-20932600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr17:20902400-20906800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
30	chr17:20902400-20907000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr17:20902400-20927000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:20902400-20931600	Strong transcription	HMEC	breast
33	chr17:20902400-20932200	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr17:20902400-20932200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr17:20902400-20932600	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr17:20902600-20907600	Strong transcription	Spleen	Spleen
37	chr17:20902600-20908600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr17:20902600-20924200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr17:20902600-20925400	Strong transcription	NHEK	skin
40	chr17:20902600-20932000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:20902600-20932200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr17:20902600-20932400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr17:20902600-20932800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr17:20902800-20909600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr17:20902800-20909600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr17:20902800-20923600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr17:20902800-20925200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr17:20902800-20925200	Strong transcription	Colonic Mucosa	Colon
49	chr17:20903000-20911000	Genic enhancers	Brain Cingulate Gyrus	brain
50	chr17:20903200-20906800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood

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