Variant report

Variant	rs4985813
Chromosome Location	chr17:20901001-20901002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr17:20899864-20904071	HepG2	liver:	n/a	chr17:20902795-20902805 chr17:20902795-20902805 chr17:20902795-20902805 chr17:20902204-20902216
2	POLR2A	chr17:20899351-20909849	K562	blood:	n/a	n/a
3	POLR2A	chr17:20900490-20903179	K562	blood:	n/a	n/a
4	CTCF	chr17:20900940-20901090	GM12865	blood:	n/a	n/a
5	POLR2A	chr17:20899206-20903031	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr17:20900967-20901889	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr17:20900814-20902988	GM12878	blood:	n/a	n/a
8	NFATC1	chr17:20900906-20902881	GM12878	blood:	n/a	chr17:20902246-20902259
9	POLR2A	chr17:20900994-20903050	HepG2	liver:	n/a	n/a
10	CTCF	chr17:20900989-20901275	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr17:20900940-20901090	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr17:20899538-20902748	U87	brain:	n/a	n/a
13	JUND	chr17:20900984-20902063	A549	lung:	n/a	n/a
14	POLR2A	chr17:20900597-20902264	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr17:20900827-20901962	A549	lung:	n/a	n/a
16	POLR2A	chr17:20900462-20902080	HepG2	liver:	n/a	n/a
17	SIN3AK20	chr17:20900728-20902534	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr17:20900886-20902025	GM19193	blood:	n/a	n/a
19	POLR2A	chr17:20900826-20901956	A549	lung:	n/a	n/a
20	POLR2A	chr17:20900273-20901981	U87	brain:	n/a	n/a
21	POLR2A	chr17:20900718-20903554	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL3	chr17:20900503-20902569	A549	lung:	n/a	n/a
23	POLR2A	chr17:20900974-20902342	HUVEC	blood vessel:	n/a	n/a
24	MTA3	chr17:20900675-20902913	GM12878	blood:	n/a	n/a
25	POLR2A	chr17:20899537-20902909	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr17:20900921-20902164	GM12878	blood:	n/a	n/a
27	CTCF	chr17:20900976-20901269	K562	blood:	n/a	n/a
28	POLR2A	chr17:20900596-20902478	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr17:20900755-20901893	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr17:20899493-20903025	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr17:20900348-20902998	K562	blood:	n/a	n/a
32	POLR2A	chr17:20900309-20902722	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr17:20900436-20901040	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr17:20900924-20901449	GM12878	blood:	n/a	n/a
35	POLR2A	chr17:20900473-20902262	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr17:20900885-20901925	A549	lung:	n/a	n/a
37	POLR2A	chr17:20900939-20902937	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr17:20899636-20902452	U87	brain:	n/a	n/a
39	POLR2A	chr17:20899559-20902299	SK-N-MC	brain:	n/a	n/a
40	RAD21	chr17:20900975-20901652	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr17:20900955-20902129	GM12878	blood:	n/a	n/a
42	CTCF	chr17:20900960-20901110	WERI-Rb-1	eye:	n/a	n/a
43	POLR2A	chr17:20900270-20904031	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr17:20899278-20902883	GM12878	blood:	n/a	n/a
45	POLR2A	chr17:20900972-20901183	HepG2	liver:	n/a	n/a
46	NFATC1	chr17:20900949-20902703	GM12878	blood:	n/a	chr17:20902246-20902259
47	POLR2A	chr17:20900189-20902617	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr17:20900408-20904082	GM12891	blood:	n/a	n/a
49	POLR2A	chr17:20900508-20901838	U87	brain:	n/a	n/a
50	POLR2A	chr17:20900974-20901210	MCF-7	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:20893363..20896072-chr17:20898999..20901703,2	MCF-7	breast:
2	chr17:20900050..20901935-chr17:20907536..20910241,2	MCF-7	breast:
3	chr17:20899990..20902443-chr17:20946128..20948088,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263986	TF binding region
ENSG00000124422	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1038107	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1038109	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1044410	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1044414	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1044420	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11204328	0.83[ASN][1000 genomes]
rs11204330	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1127815	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11650829	0.83[ASN][1000 genomes]
rs11651632	0.83[ASN][1000 genomes]
rs11654347	0.83[ASN][1000 genomes]
rs11654680	0.82[ASN][1000 genomes]
rs11655364	0.82[ASN][1000 genomes]
rs11658914	0.82[ASN][1000 genomes]
rs11871167	0.82[ASN][1000 genomes]
rs12103803	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12150138	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12600604	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12936249	0.82[ASN][1000 genomes]
rs1531567	0.82[ASN][1000 genomes]
rs1904230	0.85[AMR][1000 genomes]
rs1993901	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2009756	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2127094	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2291036	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2291037	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2364327	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2364328	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2364329	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2364330	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2364331	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2364332	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2364333	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28419675	0.83[ASN][1000 genomes]
rs28595150	0.82[ASN][1000 genomes]
rs3612	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3816664	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3943299	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4462662	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4613123	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985820	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4985824	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4985941	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4985946	0.83[ASN][1000 genomes]
rs4985947	0.82[ASN][1000 genomes]
rs4985948	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985949	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985952	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985953	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985954	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985955	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985957	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4985962	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4985964	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4985973	0.81[AMR][1000 genomes]
rs4985974	0.83[AMR][1000 genomes]
rs5005801	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55730423	0.83[ASN][1000 genomes]
rs55749232	0.82[ASN][1000 genomes]
rs55985304	0.82[ASN][1000 genomes]
rs6587109	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6587115	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6650606	0.83[ASN][1000 genomes]
rs6650607	0.83[ASN][1000 genomes]
rs7207724	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7207753	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7208779	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7213253	0.83[ASN][1000 genomes]
rs7213684	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7215369	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7216090	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7216449	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7216786	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7216978	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7218112	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7218443	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7219244	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7220023	0.83[ASN][1000 genomes]
rs7221483	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7221757	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7223388	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7224746	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7226229	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8064435	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8075790	0.83[ASN][1000 genomes]
rs8076078	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8082210	0.82[ASN][1000 genomes]
rs880652	0.83[ASN][1000 genomes]
rs880654	0.83[ASN][1000 genomes]
rs899334	0.83[ASN][1000 genomes]
rs899335	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs899336	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs899338	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs899341	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs899342	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs961004	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9797279	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9895047	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9896259	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9896301	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9896416	0.83[ASN][1000 genomes]
rs9897434	0.82[ASN][1000 genomes]
rs9898265	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9902303	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs996065	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4985813	USP22	cis	Whole Blood	GTEx
rs4985813	USP22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20893000-20901600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:20893800-20901200	Weak transcription	Right Atrium	heart
3	chr17:20896400-20901400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr17:20896400-20901600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:20896400-20902800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:20896600-20901800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr17:20896600-20901800	Weak transcription	HUVEC	blood vessel
8	chr17:20896600-20902000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr17:20896600-20906800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:20896800-20901400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr17:20896800-20901400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr17:20896800-20901400	Weak transcription	Fetal Lung	lung
13	chr17:20896800-20901600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr17:20896800-20901600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:20896800-20901600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr17:20896800-20901600	Weak transcription	HSMM	muscle
17	chr17:20896800-20901800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr17:20896800-20901800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr17:20896800-20901800	Weak transcription	NHDF-Ad	bronchial
20	chr17:20896800-20902200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr17:20896800-20902200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:20896800-20902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:20896800-20902200	Weak transcription	Fetal Thymus	thymus
24	chr17:20896800-20902400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr17:20896800-20902600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr17:20896800-20902600	Weak transcription	Colonic Mucosa	Colon
27	chr17:20896800-20902600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr17:20896800-20902600	Weak transcription	NHEK	skin
29	chr17:20896800-20904200	Weak transcription	Primary T cells from cord blood	blood
30	chr17:20896800-20904800	Weak transcription	Fetal Kidney	kidney
31	chr17:20896800-20905200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr17:20897000-20901200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr17:20897000-20901600	Weak transcription	HSMMtube	muscle
34	chr17:20897000-20901800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr17:20897000-20901800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:20897000-20901800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr17:20897000-20901800	Weak transcription	Fetal Heart	heart
38	chr17:20897000-20901800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr17:20897000-20902000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr17:20897000-20902000	Weak transcription	Osteobl	bone
41	chr17:20897000-20902400	Weak transcription	HMEC	breast
42	chr17:20897000-20902600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr17:20897000-20902600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr17:20897000-20902600	Weak transcription	Pancreas	Pancrea
45	chr17:20897000-20902800	Weak transcription	HepG2	liver
46	chr17:20897000-20903400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr17:20897000-20905200	Weak transcription	Fetal Brain Male	brain
48	chr17:20897200-20901800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr17:20897200-20902000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr17:20897200-20904600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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