Variant report

Variant	rs996065
Chromosome Location	chr17:20936403-20936404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20935544..20938386-chr17:21136590..21139046,2	K562	blood:
2	chr17:20934273..20942906-chr17:20943761..20949798,22	MCF-7	breast:
3	chr17:20916495..20920338-chr17:20933999..20937587,3	K562	blood:
4	chr17:20913654..20920338-chr17:20930133..20937587,8	K562	blood:

Variant related genes	Relation type
ENSG00000124422	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1038107	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1038109	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1044410	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1044414	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1044420	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11204326	0.86[YRI][hapmap]
rs11204330	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1127815	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12103803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12150138	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12600604	0.83[EUR][1000 genomes]
rs1904230	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1993901	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009756	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2127094	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291037	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2364327	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364328	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2364330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2364331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2364332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2364333	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3816664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3943299	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4462662	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4613123	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985813	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4985820	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4985824	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4985935	0.87[JPT][hapmap]
rs4985941	0.90[CEU][hapmap];0.96[JPT][hapmap];0.81[EUR][1000 genomes]
rs4985948	0.95[CEU][hapmap];0.80[CHB][hapmap];0.96[JPT][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4985949	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4985952	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4985953	1.00[CEU][hapmap];0.96[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4985954	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4985955	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4985957	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4985962	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4985964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985973	0.81[AMR][1000 genomes]
rs4985974	0.95[CEU][hapmap];0.96[JPT][hapmap];0.82[AMR][1000 genomes]
rs5005801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6587109	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6587111	0.81[AFR][1000 genomes]
rs6587115	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71371043	0.90[ASN][1000 genomes]
rs7207724	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7207753	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7208779	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7211094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs7213684	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7215369	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7216090	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7216145	0.83[YRI][hapmap]
rs7216449	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7216786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7216978	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7218112	0.90[CEU][hapmap];0.91[CHB][hapmap];0.96[YRI][hapmap];0.82[EUR][1000 genomes]
rs7218443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7219244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7221483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7221757	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7223388	0.90[CEU][hapmap];0.95[JPT][hapmap]
rs7224746	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7226229	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8064435	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8071311	0.86[JPT][hapmap]
rs8075790	0.91[JPT][hapmap]
rs8076078	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8077998	0.85[ASN][1000 genomes]
rs880652	0.87[JPT][hapmap]
rs899335	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs899336	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs899338	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs899341	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs899342	0.95[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs961004	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9797279	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]
rs9894624	0.88[ASN][1000 genomes]
rs9895047	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9896259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9896301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9898265	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9902303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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
rs996065	USP22	Cis_1M	lymphoblastoid	RTeQTL
rs996065	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	chr17:20901400-20937000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr17:20901800-20936800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:20903400-20940000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:20903600-20938400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr17:20923000-20943800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr17:20931600-20937600	Enhancers	Brain Substantia Nigra	brain
7	chr17:20931800-20936600	Weak transcription	HUVEC	blood vessel
8	chr17:20931800-20937000	Genic enhancers	HSMM	muscle
9	chr17:20931800-20940200	Enhancers	Brain Cingulate Gyrus	brain
10	chr17:20932000-20936600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr17:20932000-20937400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr17:20932000-20937400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr17:20932000-20937400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr17:20932000-20938000	Enhancers	Brain Hippocampus Middle	brain
15	chr17:20932200-20937400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr17:20932200-20937800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr17:20932200-20941400	Genic enhancers	A549	lung
18	chr17:20932400-20936800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:20932400-20937200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr17:20932400-20937400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:20932400-20937600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr17:20932400-20938000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr17:20932600-20937400	Weak transcription	Colonic Mucosa	Colon
24	chr17:20932600-20937600	Enhancers	Brain Angular Gyrus	brain
25	chr17:20932600-20937800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr17:20932600-20937800	Enhancers	Adipose Nuclei	Adipose
27	chr17:20932600-20937800	Enhancers	Brain Anterior Caudate	brain
28	chr17:20932600-20940400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr17:20932800-20941800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr17:20933200-20936800	Weak transcription	HepG2	liver
31	chr17:20933400-20938800	Strong transcription	Hela-S3	cervix
32	chr17:20933600-20937600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr17:20933800-20936800	Enhancers	Primary T cells from cord blood	blood
34	chr17:20933800-20937600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr17:20934000-20937400	Weak transcription	Aorta	Aorta
36	chr17:20934000-20942800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr17:20934000-20943200	Weak transcription	Esophagus	oesophagus
38	chr17:20934200-20936800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr17:20934600-20937800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:20934600-20940000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr17:20934800-20936800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr17:20935000-20936600	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr17:20935000-20936600	Genic enhancers	Fetal Muscle Leg	muscle
44	chr17:20935000-20936800	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr17:20935000-20937200	Genic enhancers	Thymus	Thymus
46	chr17:20935000-20937400	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr17:20935000-20937400	Enhancers	Stomach Smooth Muscle	stomach
48	chr17:20935000-20937600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:20935000-20938000	Enhancers	HSMMtube	muscle
50	chr17:20935000-20938200	Enhancers	Psoas Muscle	Psoas

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