Variant report

Variant	rs10043982
Chromosome Location	chr5:75472204-75472205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr5:75471761-75472579	GM12878	blood:	n/a	chr5:75472040-75472053
2	EP300	chr5:75471590-75472439	K562	blood:	n/a	n/a
3	ATF2	chr5:75471604-75472348	GM12878	blood:	n/a	n/a
4	YY1	chr5:75472016-75472274	K562	blood:	n/a	n/a
5	MAZ	chr5:75470941-75472282	GM12878	blood:	n/a	n/a
6	PAX5	chr5:75471628-75472362	GM12878	blood:	n/a	n/a
7	EBF1	chr5:75471716-75472261	GM12878	blood:	n/a	chr5:75471882-75471893
8	YY1	chr5:75471920-75472271	GM12891	blood:	n/a	n/a
9	SPI1	chr5:75471821-75472223	GM12878	blood:	n/a	chr5:75472040-75472053
10	NFIC	chr5:75470896-75472411	GM12878	blood:	n/a	n/a
11	EP300	chr5:75471661-75472325	GM12878	blood:	n/a	n/a
12	EP300	chr5:75471973-75472249	GM12878	blood:	n/a	n/a
13	IKZF1	chr5:75471645-75472516	GM12878	blood:	n/a	n/a
14	BHLHE40	chr5:75471965-75472226	GM12878	blood:	n/a	n/a
15	NFATC1	chr5:75471918-75472544	GM12878	blood:	n/a	n/a
16	MYC	chr5:75471545-75472230	K562	blood:	n/a	n/a
17	BCL3	chr5:75471555-75472304	GM12878	blood:	n/a	n/a
18	SMC3	chr5:75472027-75472212	GM12878	blood:	n/a	n/a
19	SPI1	chr5:75471830-75472221	GM12891	blood:	n/a	chr5:75472040-75472053
20	STAT5A	chr5:75471518-75472222	GM12878	blood:	n/a	chr5:75471928-75471940 chr5:75471546-75471553
21	MTA3	chr5:75471526-75472401	GM12878	blood:	n/a	n/a
22	ETS1	chr5:75471744-75472239	GM12878	blood:	n/a	n/a
23	EP300	chr5:75471784-75472305	GM12878	blood:	n/a	n/a
24	NR2F2	chr5:75471536-75472228	K562	blood:	n/a	n/a
25	RCOR1	chr5:75471558-75472234	K562	blood:	n/a	n/a
26	POU2F2	chr5:75471800-75472227	GM12891	blood:	n/a	n/a
27	CUX1	chr5:75471734-75472371	K562	blood:	n/a	n/a
28	PML	chr5:75471460-75472592	GM12878	blood:	n/a	n/a
29	CEBPB	chr5:75471615-75472408	K562	blood:	n/a	chr5:75472082-75472093
30	ATF2	chr5:75471452-75472442	GM12878	blood:	n/a	n/a
31	MXI1	chr5:75470592-75472288	SK-N-SH	brain:	n/a	n/a
32	CEBPB	chr5:75471319-75472430	GM12878	blood:	n/a	chr5:75472082-75472093
33	MAX	chr5:75471667-75472328	GM12878	blood:	n/a	chr5:75472301-75472310
34	MTA3	chr5:75471711-75472297	GM12878	blood:	n/a	n/a
35	SPI1	chr5:75471839-75472214	HL-60	blood:	n/a	chr5:75472040-75472053
36	RUNX3	chr5:75471532-75472478	GM12878	blood:	n/a	n/a
37	NFATC1	chr5:75471605-75472367	GM12878	blood:	n/a	n/a
38	CUX1	chr5:75471981-75472339	GM12878	blood:	n/a	n/a
39	TBL1XR1	chr5:75471055-75472312	GM12878	blood:	n/a	n/a
40	BCLAF1	chr5:75471604-75472393	GM12878	blood:	n/a	n/a
41	RUNX3	chr5:75471508-75472444	GM12878	blood:	n/a	n/a
42	TEAD4	chr5:75471495-75472329	K562	blood:	n/a	n/a
43	BATF	chr5:75471890-75472287	GM12878	blood:	n/a	n/a
44	FOXM1	chr5:75471512-75472370	GM12878	blood:	n/a	n/a
45	EP300	chr5:75472126-75472279	K562	blood:	n/a	n/a
46	RAD21	chr5:75470386-75472489	SK-N-SH	brain:	n/a	chr5:75471065-75471084 chr5:75471069-75471083 chr5:75471450-75471462
47	SPI1	chr5:75471837-75472237	HL-60	blood:	n/a	chr5:75472040-75472053
48	NFIC	chr5:75471529-75472331	GM12878	blood:	n/a	n/a
49	YY1	chr5:75471911-75472341	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254893	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2055439	0.90[EUR][1000 genomes]
rs34476924	0.88[EUR][1000 genomes]
rs4493648	0.90[EUR][1000 genomes]
rs6414966	0.90[EUR][1000 genomes]
rs6414969	0.90[EUR][1000 genomes]
rs6868505	0.90[EUR][1000 genomes]
rs7733832	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1034853	chr5:75382047-75534981	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv462212	chr5:75388834-75534570	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv598676	chr5:75388834-75534570	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv526084	chr5:75410511-75530494	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv2757119	chr5:75426863-75474780	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2759351	chr5:75426863-75474780	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv34958	chr5:75429015-75474921	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75470600-75472600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:75470600-75472800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:75470600-75476400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:75470800-75472600	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:75471000-75472600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:75471000-75472600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr5:75471000-75474200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:75471200-75472400	Enhancers	Primary B cells from cord blood	blood
9	chr5:75471200-75472600	Enhancers	Primary T cells from cord blood	blood
10	chr5:75471200-75472600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr5:75471200-75472600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr5:75471200-75472600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr5:75471200-75472600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr5:75471200-75472600	Flanking Active TSS	GM12878-XiMat	blood
15	chr5:75471200-75472600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr5:75471800-75472800	Enhancers	Primary hematopoietic stem cells	blood
17	chr5:75471800-75472800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:75471800-75477000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:75472000-75472600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:75472200-75472400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr5:75472200-75472400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:75472200-75472600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr5:75472200-75472800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:75472200-75472800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:75472200-75472800	Enhancers	K562	blood
26	chr5:75472200-75473000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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