Variant report

Variant	rs2218959
Chromosome Location	chr4:122090300-122090301
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr4:122089959-122090518	GM12878	blood:	n/a	n/a
2	CEBPB	chr4:122089652-122090596	GM12878	blood:	n/a	n/a
3	ATF2	chr4:122089650-122090546	GM12878	blood:	n/a	n/a
4	STAT1	chr4:122090155-122090311	GM12878	blood:	n/a	n/a
5	STAT5A	chr4:122089692-122090501	GM12878	blood:	n/a	n/a
6	CEBPB	chr4:122090161-122090420	GM12878	blood:	n/a	n/a
7	BCLAF1	chr4:122089963-122090524	GM12878	blood:	n/a	n/a
8	CREB1	chr4:122089854-122090602	GM12878	blood:	n/a	n/a
9	BCL3	chr4:122089982-122090494	GM12878	blood:	n/a	n/a
10	PBX3	chr4:122089995-122090400	GM12878	blood:	n/a	n/a
11	BATF	chr4:122089894-122090503	GM12878	blood:	n/a	n/a
12	MEF2A	chr4:122089530-122090481	GM12878	blood:	n/a	chr4:122089990-122090011
13	PAX5	chr4:122090126-122090446	GM12878	blood:	n/a	n/a
14	SPI1	chr4:122090147-122090426	GM12878	blood:	n/a	n/a
15	PML	chr4:122089943-122090516	GM12878	blood:	n/a	n/a
16	MEF2C	chr4:122089553-122090504	GM12878	blood:	n/a	chr4:122089990-122090011
17	NFIC	chr4:122089555-122090673	GM12878	blood:	n/a	n/a
18	FOXM1	chr4:122089618-122090550	GM12878	blood:	n/a	n/a
19	TCF12	chr4:122090001-122090441	GM12878	blood:	n/a	n/a
20	CHD2	chr4:122089935-122090491	GM12878	blood:	n/a	n/a
21	IRF4	chr4:122089924-122090590	GM12878	blood:	n/a	n/a
22	EBF1	chr4:122089994-122090500	GM12878	blood:	n/a	n/a
23	ZNF143	chr4:122090130-122090330	GM12878	blood:	n/a	n/a
24	TCF12	chr4:122090152-122090446	GM12878	blood:	n/a	n/a
25	EBF1	chr4:122089883-122090557	GM12878	blood:	n/a	n/a
26	STAT5A	chr4:122089936-122090499	GM12878	blood:	n/a	n/a
27	SP1	chr4:122089988-122090484	GM12878	blood:	n/a	n/a
28	ELF1	chr4:122090017-122090474	GM12878	blood:	n/a	n/a
29	CREB1	chr4:122089869-122090544	GM12878	blood:	n/a	n/a
30	BATF	chr4:122089927-122090565	GM12878	blood:	n/a	n/a
31	TBL1XR1	chr4:122089833-122090513	GM12878	blood:	n/a	n/a
32	STAT3	chr4:122089864-122090388	GM12878	blood:	n/a	n/a
33	SPI1	chr4:122090128-122090458	GM12891	blood:	n/a	n/a
34	RUNX3	chr4:122089554-122090597	GM12878	blood:	n/a	n/a
35	BCLAF1	chr4:122089922-122090543	GM12878	blood:	n/a	n/a
36	WRNIP1	chr4:122090143-122090383	GM12878	blood:	n/a	n/a
37	EP300	chr4:122089917-122090507	GM12878	blood:	n/a	n/a
38	BHLHE40	chr4:122090015-122090470	GM12878	blood:	n/a	n/a
39	PAX5	chr4:122089921-122090577	GM12878	blood:	n/a	n/a
40	NFATC1	chr4:122089742-122090642	GM12878	blood:	n/a	n/a
41	SRF	chr4:122090172-122090338	GM12878	blood:	n/a	n/a
42	ATF2	chr4:122089668-122090578	GM12878	blood:	n/a	n/a
43	MTA3	chr4:122089622-122090761	GM12878	blood:	n/a	n/a
44	FOXM1	chr4:122089637-122090547	GM12878	blood:	n/a	n/a
45	NFATC1	chr4:122089774-122090597	GM12878	blood:	n/a	n/a
46	IKZF1	chr4:122089713-122090627	GM12878	blood:	n/a	n/a
47	BCL11A	chr4:122089904-122090533	GM12878	blood:	n/a	n/a
48	SPI1	chr4:122090204-122090351	GM12878	blood:	n/a	n/a
49	YY1	chr4:122090172-122090492	GM12878	blood:	n/a	n/a
50	IRF4	chr4:122090000-122090509	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
TNIP3	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10004221	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10007399	0.93[AMR][1000 genomes]
rs10015340	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10446733	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10454795	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11098605	0.81[ASN][1000 genomes]
rs11947841	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13101385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13102428	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13104663	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13104875	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13106084	0.86[ASN][1000 genomes]
rs13106137	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13107912	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13108214	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13109100	0.86[ASN][1000 genomes]
rs13112923	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13115256	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13116723	0.86[ASN][1000 genomes]
rs13116936	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13118027	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13123960	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13124511	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13124522	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13125962	0.92[ASN][1000 genomes]
rs13126929	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13128962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13129000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13129293	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13129450	0.84[AMR][1000 genomes]
rs13133184	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13133221	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13133584	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13133740	0.91[CEU][hapmap]
rs13137539	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13143534	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13150702	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13151913	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13152159	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13152687	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17051320	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17051321	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1858291	0.82[AMR][1000 genomes]
rs2136942	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2136943	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2198315	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28513714	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28530598	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35449703	0.83[ASN][1000 genomes]
rs35971082	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36087391	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817171	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6534254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6811411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6812399	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6812515	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6814480	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6820363	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6821331	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6835790	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6838000	0.86[ASN][1000 genomes]
rs6839386	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6855628	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6856825	0.82[EUR][1000 genomes]
rs71629498	0.81[ASN][1000 genomes]
rs7680038	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7684168	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs896621	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9284633	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9307490	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs998327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9992960	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9993163	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9998339	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3386870	chr4:121867625-122208448	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879860	chr4:122030864-122126808	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122086800-122096600	Weak transcription	Thymus	Thymus
2	chr4:122087000-122096600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr4:122087600-122093400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:122088400-122096000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:122088400-122096200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:122088800-122096400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:122089000-122091200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:122089000-122096400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr4:122089200-122093400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr4:122089200-122093800	Weak transcription	Primary T cells from cord blood	blood
11	chr4:122089800-122090800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr4:122090000-122090400	Flanking Active TSS	GM12878-XiMat	blood

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