Variant report

Variant	rs9797279
Chromosome Location	chr17:20908325-20908326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20901201..20904612-chr17:20905901..20908917,4	MCF-7	breast:
2	chr17:20902261..20904753-chr17:20906540..20909495,2	MCF-7	breast:
3	chr17:20907867..20912757-chr17:20913311..20916594,7	K562	blood:

Variant related genes	Relation type
ENSG00000124422	Chromatin interaction
ENSG00000263986	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1038107	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1038109	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1044410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1044414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1044420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11204326	0.86[YRI][hapmap]
rs11204328	0.80[ASN][1000 genomes]
rs11204330	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1127815	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11650829	0.80[ASN][1000 genomes]
rs11651632	0.80[ASN][1000 genomes]
rs12103803	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12150138	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12600604	0.86[ASN][1000 genomes]
rs1904230	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1993901	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2009756	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2127094	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2291036	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2291037	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2364327	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2364328	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2364329	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2364330	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2364331	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2364332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2364333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28419675	0.80[ASN][1000 genomes]
rs3612	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3816664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3943299	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4462662	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4613123	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4985813	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4985820	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4985824	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4985935	0.91[JPT][hapmap]
rs4985941	0.90[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4985948	0.95[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4985949	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4985952	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4985953	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4985954	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4985955	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4985957	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4985962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4985964	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985974	0.95[CEU][hapmap];0.95[JPT][hapmap]
rs5005801	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55730423	0.80[ASN][1000 genomes]
rs6587109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6587115	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6650606	0.80[ASN][1000 genomes]
rs6650607	0.80[ASN][1000 genomes]
rs71371043	0.80[ASN][1000 genomes]
rs7207724	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7207753	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7208779	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7211094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs7213253	0.80[ASN][1000 genomes]
rs7213684	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7215369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7216090	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7216145	0.83[YRI][hapmap]
rs7216449	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7216786	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7216978	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7218112	0.90[CEU][hapmap];0.91[CHB][hapmap];0.96[YRI][hapmap];0.81[ASN][1000 genomes]
rs7218443	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7219244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7220023	0.80[ASN][1000 genomes]
rs7221483	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7221757	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7223388	0.90[CEU][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7224746	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7226229	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8064435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8071311	0.91[JPT][hapmap]
rs8075790	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs8076078	0.86[ASN][1000 genomes]
rs880652	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs880654	0.80[ASN][1000 genomes]
rs899334	0.80[ASN][1000 genomes]
rs899335	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs899336	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs899338	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs899341	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs899342	0.95[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs961004	0.86[ASN][1000 genomes]
rs9894624	0.81[ASN][1000 genomes]
rs9895047	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9896259	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9896301	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9896416	0.80[ASN][1000 genomes]
rs9898265	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9902303	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs996065	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[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	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
rs9797279	USP22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20899200-20908600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:20900200-20924000	Strong transcription	Fetal Stomach	stomach
3	chr17:20900600-20932400	Strong transcription	Fetal Intestine Small	intestine
4	chr17:20900800-20925600	Strong transcription	Fetal Brain Female	brain
5	chr17:20900800-20932200	Strong transcription	Brain Germinal Matrix	brain
6	chr17:20901400-20912200	Strong transcription	Primary B cells from cord blood	blood
7	chr17:20901400-20925200	Strong transcription	Fetal Lung	lung
8	chr17:20901400-20932600	Strong transcription	Thymus	Thymus
9	chr17:20901400-20937000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr17:20901600-20908800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:20901800-20908600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:20901800-20908600	Strong transcription	HUVEC	blood vessel
13	chr17:20901800-20929400	Strong transcription	GM12878-XiMat	blood
14	chr17:20901800-20932000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr17:20901800-20932000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr17:20901800-20932400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr17:20901800-20936800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:20902000-20925200	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr17:20902000-20932600	Strong transcription	Fetal Intestine Large	intestine
20	chr17:20902000-20935400	Strong transcription	Dnd41	blood
21	chr17:20902200-20918600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr17:20902200-20925200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:20902200-20932400	Strong transcription	Fetal Thymus	thymus
24	chr17:20902200-20932600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr17:20902400-20927000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr17:20902400-20931600	Strong transcription	HMEC	breast
27	chr17:20902400-20932200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr17:20902400-20932200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr17:20902400-20932600	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr17:20902600-20908600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr17:20902600-20924200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr17:20902600-20925400	Strong transcription	NHEK	skin
33	chr17:20902600-20932000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:20902600-20932200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr17:20902600-20932400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr17:20902600-20932800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr17:20902800-20909600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr17:20902800-20909600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr17:20902800-20923600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr17:20902800-20925200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr17:20902800-20925200	Strong transcription	Colonic Mucosa	Colon
42	chr17:20903000-20911000	Genic enhancers	Brain Cingulate Gyrus	brain
43	chr17:20903200-20917000	Strong transcription	Esophagus	oesophagus
44	chr17:20903200-20925200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:20903200-20932000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr17:20903400-20908400	Weak transcription	Right Atrium	heart
47	chr17:20903400-20932000	Strong transcription	Liver	Liver
48	chr17:20903400-20940000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:20903600-20938400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr17:20903800-20924000	Strong transcription	Lung	lung

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