Variant report

Variant	rs36226551
Chromosome Location	chr3:121796232-121796233
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	RUNX3	chr3:121795188-121797854	GM12878	blood:	n/a	n/a
2	SPI1	chr3:121795882-121796937	GM12891	blood:	n/a	n/a
3	POLR2A	chr3:121795725-121797288	GM12878	blood:	n/a	n/a
4	MTA3	chr3:121795740-121797775	GM12878	blood:	n/a	n/a
5	MTA3	chr3:121794950-121799623	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:121795437-121797732	GM12891	blood:	n/a	n/a
7	ATF2	chr3:121796209-121796945	GM12878	blood:	n/a	n/a
8	EBF1	chr3:121795153-121797811	GM12878	blood:	n/a	n/a
9	FOXM1	chr3:121795676-121797804	GM12878	blood:	n/a	chr3:121797053-121797061
10	POLR2A	chr3:121795059-121798114	GM12878	blood:	n/a	n/a
11	RUNX3	chr3:121795586-121797349	GM12878	blood:	n/a	n/a
12	POLR2A	chr3:121795660-121797452	GM12892	blood:	n/a	n/a
13	RELA	chr3:121795954-121797751	GM12892	blood:	n/a	chr3:121797302-121797311 chr3:121797302-121797311 chr3:121796549-121796558 chr3:121796549-121796558
14	TBP	chr3:121795708-121797788	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:121795126-121797684	GM15510	blood:	n/a	n/a
16	SPI1	chr3:121795961-121796886	GM12878	blood:	n/a	n/a
17	RELA	chr3:121795783-121797790	GM19193	blood:	n/a	chr3:121797302-121797311 chr3:121797302-121797311 chr3:121796549-121796558 chr3:121796549-121796558
18	BCLAF1	chr3:121795804-121797333	GM12878	blood:	n/a	chr3:121796550-121796559
19	RELA	chr3:121795844-121797767	GM19099	blood:	n/a	chr3:121797302-121797311 chr3:121797302-121797311 chr3:121796549-121796558 chr3:121796549-121796558
20	SPI1	chr3:121795846-121797095	GM12878	blood:	n/a	n/a
21	SPI1	chr3:121795960-121797086	HL-60	blood:	n/a	n/a
22	RELA	chr3:121795261-121797791	GM10847	blood:	n/a	chr3:121797302-121797311 chr3:121797302-121797311 chr3:121795327-121795336 chr3:121796549-121796558 chr3:121796549-121796558 chr3:121795327-121795336
23	STAT5A	chr3:121795496-121797873	GM12878	blood:	n/a	chr3:121797144-121797152 chr3:121796184-121796193 chr3:121796183-121796192
24	POLR2A	chr3:121795126-121797918	GM12878	blood:	n/a	n/a
25	IKZF1	chr3:121795779-121796930	GM12878	blood:	n/a	n/a
26	ZNF143	chr3:121795495-121796897	GM12878	blood:	n/a	n/a
27	NFIC	chr3:121795763-121798031	GM12878	blood:	n/a	chr3:121796150-121796166
28	EP300	chr3:121795389-121797818	GM12878	blood:	n/a	n/a
29	BHLHE40	chr3:121795116-121797860	GM12878	blood:	n/a	n/a
30	RELA	chr3:121795371-121797703	GM18951	blood:	n/a	chr3:121797302-121797311 chr3:121797302-121797311 chr3:121796549-121796558 chr3:121796549-121796558
31	POLR2A	chr3:121795619-121797507	GM12892	blood:	n/a	n/a
32	STAT5A	chr3:121796129-121797588	GM12878	blood:	n/a	chr3:121797144-121797152 chr3:121796184-121796193 chr3:121796183-121796192
33	NFATC1	chr3:121795820-121797735	GM12878	blood:	n/a	n/a
34	CHD1	chr3:121795241-121798185	GM12878	blood:	n/a	n/a
35	POLR2A	chr3:121795293-121797450	GM12878	blood:	n/a	n/a
36	SPI1	chr3:121795919-121796874	GM12891	blood:	n/a	n/a
37	BATF	chr3:121795970-121796281	GM12878	blood:	n/a	n/a
38	FOXA1	chr3:121796221-121796636	HepG2	liver:	n/a	n/a
39	POLR2A	chr3:121792444-121801560	GM12878	blood:	n/a	n/a
40	RELA	chr3:121795170-121798038	GM12878	blood:	n/a	chr3:121797302-121797311 chr3:121797302-121797311 chr3:121795327-121795336 chr3:121796549-121796558 chr3:121796549-121796558 chr3:121795327-121795336
41	POLR2A	chr3:121795699-121797685	Raji	blood:	n/a	n/a
42	CHD2	chr3:121795285-121797779	GM12878	blood:	n/a	n/a
43	FOXM1	chr3:121795767-121797176	GM12878	blood:	n/a	chr3:121797053-121797061
44	CUX1	chr3:121795645-121796841	GM12878	blood:	n/a	n/a
45	EBF1	chr3:121795772-121797002	GM12878	blood:	n/a	n/a
46	PML	chr3:121795498-121797724	GM12878	blood:	n/a	n/a
47	POLR2A	chr3:121793374-121798119	GM18505	blood:	n/a	n/a
48	MXI1	chr3:121795125-121797626	GM12878	blood:	n/a	n/a
49	RELA	chr3:121795852-121797932	GM18505	blood:	n/a	chr3:121797302-121797311 chr3:121797302-121797311 chr3:121796549-121796558 chr3:121796549-121796558
50	MAX	chr3:121796175-121796712	NB4	blood:	n/a	chr3:121796345-121796355

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:121771737..121774786-chr3:121794365..121797921,3	MCF-7	breast:

Variant related genes	Relation type
CD86	TF binding region
ENSG00000114013	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10511408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17203418	0.93[AMR][1000 genomes]
rs17203439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17281953	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36226875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7617517	0.86[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33139	chr3:121500400-122091831	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121786600-121815800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:121792000-121798400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:121792800-121797600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr3:121792800-121798400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:121794400-121797400	Enhancers	Adipose Nuclei	Adipose
6	chr3:121794800-121796400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:121795200-121796400	Flanking Active TSS	GM12878-XiMat	blood
8	chr3:121795200-121796600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:121795200-121797000	Enhancers	HepG2	liver
10	chr3:121795400-121796400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:121795400-121796400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:121795400-121796600	Enhancers	Primary hematopoietic stem cells	blood
13	chr3:121795400-121797000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:121795600-121796800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr3:121795600-121796800	Enhancers	Spleen	Spleen
16	chr3:121795600-121798200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr3:121795600-121798600	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr3:121795600-121800200	Weak transcription	NHEK	skin
19	chr3:121795800-121796400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr3:121795800-121796800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:121795800-121796800	Enhancers	Left Ventricle	heart
22	chr3:121795800-121797000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:121795800-121797800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr3:121796000-121800000	Weak transcription	HMEC	breast
25	chr3:121796000-121804400	Weak transcription	Esophagus	oesophagus
26	chr3:121796200-121796600	Weak transcription	Fetal Intestine Large	intestine
27	chr3:121796200-121800000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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