Variant report

Variant	rs12077177
Chromosome Location	chr1:158256016-158256017
allele	A/G
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	POLR2A	chr1:158255487-158256079	HL-60	blood:	n/a	n/a
2	SPI1	chr1:158255430-158256083	GM12891	blood:	n/a	chr1:158255716-158255725 chr1:158255857-158255866 chr1:158255927-158255940 chr1:158255714-158255727 chr1:158255720-158255733 chr1:158255928-158255941 chr1:158255658-158255667 chr1:158255713-158255726
3	RELA	chr1:158255385-158257313	GM12891	blood:	n/a	n/a
4	POLR2A	chr1:158255337-158256109	HL-60	blood:	n/a	n/a
5	MAX	chr1:158255500-158256068	GM12878	blood:	n/a	chr1:158255679-158255690 chr1:158255680-158255689 chr1:158255680-158255689 chr1:158255675-158255694
6	MAX	chr1:158255451-158256056	NB4	blood:	n/a	chr1:158255679-158255690 chr1:158255680-158255689 chr1:158255680-158255689 chr1:158255675-158255694
7	IRF4	chr1:158255460-158256050	GM12878	blood:	n/a	n/a
8	SPI1	chr1:158255254-158256341	GM12878	blood:	n/a	chr1:158255716-158255725 chr1:158255857-158255866 chr1:158255927-158255940 chr1:158255714-158255727 chr1:158255720-158255733 chr1:158255928-158255941 chr1:158255658-158255667 chr1:158255713-158255726
9	RELA	chr1:158255366-158256130	GM12878	blood:	n/a	n/a
10	PAX5	chr1:158255365-158256064	GM12878	blood:	n/a	chr1:158255949-158255958
11	SPI1	chr1:158255463-158256133	GM12891	blood:	n/a	chr1:158255716-158255725 chr1:158255857-158255866 chr1:158255927-158255940 chr1:158255714-158255727 chr1:158255720-158255733 chr1:158255928-158255941 chr1:158255658-158255667 chr1:158255713-158255726
12	CEBPB	chr1:158255334-158256077	GM12878	blood:	n/a	n/a
13	TBL1XR1	chr1:158255409-158256049	GM12878	blood:	n/a	n/a
14	MAZ	chr1:158255207-158256899	GM12878	blood:	n/a	chr1:158255679-158255690 chr1:158255680-158255689 chr1:158255680-158255689 chr1:158255675-158255694
15	IKZF1	chr1:158255300-158257149	GM12878	blood:	n/a	n/a
16	EBF1	chr1:158255464-158256080	GM12878	blood:	n/a	n/a
17	EBF1	chr1:158255483-158256167	GM12878	blood:	n/a	n/a
18	NFIC	chr1:158255253-158257293	GM12878	blood:	n/a	n/a
19	WRNIP1	chr1:158255498-158256046	GM12878	blood:	n/a	n/a
20	SPI1	chr1:158255537-158256100	HL-60	blood:	n/a	chr1:158255716-158255725 chr1:158255857-158255866 chr1:158255927-158255940 chr1:158255714-158255727 chr1:158255720-158255733 chr1:158255928-158255941 chr1:158255658-158255667 chr1:158255713-158255726
21	SPI1	chr1:158255454-158256207	HL-60	blood:	n/a	chr1:158255716-158255725 chr1:158255857-158255866 chr1:158255927-158255940 chr1:158255714-158255727 chr1:158255720-158255733 chr1:158255928-158255941 chr1:158255658-158255667 chr1:158255713-158255726
22	ATF2	chr1:158255278-158256188	GM12878	blood:	n/a	n/a
23	NFIC	chr1:158255282-158256088	GM12878	blood:	n/a	n/a
24	REST	chr1:158255514-158256031	HL-60	blood:	n/a	chr1:158255571-158255584
25	BCLAF1	chr1:158255278-158256043	GM12878	blood:	n/a	chr1:158255658-158255667
26	POU2F2	chr1:158255495-158256035	GM12891	blood:	n/a	n/a
27	EP300	chr1:158255256-158257185	GM12878	blood:	n/a	chr1:158255653-158255667
28	BHLHE40	chr1:158255388-158256669	GM12878	blood:	n/a	n/a
29	RELA	chr1:158255402-158257373	GM18505	blood:	n/a	n/a
30	BCL11A	chr1:158255432-158256060	GM12878	blood:	n/a	chr1:158255658-158255667
31	RELA	chr1:158255445-158257160	GM18951	blood:	n/a	n/a
32	RELA	chr1:158255421-158256045	GM19193	blood:	n/a	n/a
33	MYC	chr1:158255479-158256043	NB4	blood:	n/a	chr1:158255679-158255690 chr1:158255680-158255689 chr1:158255680-158255689 chr1:158255675-158255694
34	MTA3	chr1:158255293-158257271	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:158255354-158256033	GM12892	blood:	n/a	n/a
36	EBF1	chr1:158255135-158256920	GM12878	blood:	n/a	chr1:158255287-158255300 chr1:158255289-158255298
37	RELA	chr1:158255448-158256060	GM15510	blood:	n/a	n/a
38	SPI1	chr1:158255486-158256050	GM12878	blood:	n/a	chr1:158255716-158255725 chr1:158255857-158255866 chr1:158255927-158255940 chr1:158255714-158255727 chr1:158255720-158255733 chr1:158255928-158255941 chr1:158255658-158255667 chr1:158255713-158255726
39	RUNX3	chr1:158255381-158256193	GM12878	blood:	n/a	n/a
40	CREB1	chr1:158255465-158256057	GM12878	blood:	n/a	n/a
41	RCOR1	chr1:158255418-158257068	GM12878	blood:	n/a	n/a
42	EP300	chr1:158255387-158257250	GM12878	blood:	n/a	chr1:158255653-158255667
43	RELA	chr1:158255458-158257179	GM10847	blood:	n/a	n/a
44	RELA	chr1:158255381-158257195	GM19099	blood:	n/a	n/a
45	MTA3	chr1:158255339-158257232	GM12878	blood:	n/a	n/a
46	RUNX3	chr1:158255261-158257302	GM12878	blood:	n/a	n/a
47	STAT5A	chr1:158255407-158256062	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
CD1C	TF binding region

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12061484	0.94[ASN][1000 genomes]
rs12062429	0.84[ASN][1000 genomes]
rs12092311	0.81[ASN][1000 genomes]
rs12096852	0.84[ASN][1000 genomes]
rs1923142	1.00[ASN][1000 genomes]
rs1923143	1.00[ASN][1000 genomes]
rs28883133	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3180089	1.00[YRI][hapmap]
rs432611	0.83[MEX][hapmap]
rs4656904	1.00[YRI][hapmap]
rs6427432	1.00[ASN][1000 genomes]
rs7531437	0.92[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	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872480	chr1:158153526-158450238	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv831692	chr1:158223459-158392016	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158252600-158257800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr1:158253000-158258000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:158253200-158256400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:158253800-158262600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:158254600-158259000	Enhancers	Fetal Thymus	thymus
6	chr1:158255000-158257200	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr1:158255200-158257200	Flanking Active TSS	GM12878-XiMat	blood
8	chr1:158255400-158258600	Enhancers	Primary T cells from cord blood	blood
9	chr1:158255600-158256200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr1:158255600-158256200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:158255600-158256400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr1:158255600-158256800	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr1:158255600-158259400	Enhancers	Thymus	Thymus
14	chr1:158255800-158256400	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr1:158255800-158259600	Weak transcription	Spleen	Spleen
16	chr1:158256000-158256400	Enhancers	Dnd41	blood
17	chr1:158256000-158257200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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