Variant report

Variant	rs11880279
Chromosome Location	chr19:36400120-36400121
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	chr19:36399679-36400985	HL-60	blood:	n/a	n/a
2	IKZF1	chr19:36400047-36400663	GM12878	blood:	n/a	n/a
3	RUNX3	chr19:36399927-36400774	GM12878	blood:	n/a	n/a
4	NFIC	chr19:36399720-36400689	GM12878	blood:	n/a	n/a
5	FOXM1	chr19:36400073-36400610	GM12878	blood:	n/a	n/a
6	BHLHE40	chr19:36399996-36400601	GM12878	blood:	n/a	n/a
7	CREB1	chr19:36400032-36400725	GM12878	blood:	n/a	n/a
8	POU2F2	chr19:36400044-36400651	GM12878	blood:	n/a	n/a
9	SPI1	chr19:36399838-36400909	GM12878	blood:	n/a	chr19:36400266-36400279 chr19:36400268-36400277 chr19:36400265-36400278
10	RELA	chr19:36399958-36400670	GM18951	blood:	n/a	n/a
11	TCF3	chr19:36400022-36400614	GM12878	blood:	n/a	chr19:36400238-36400251 chr19:36400386-36400399 chr19:36400241-36400255
12	EBF1	chr19:36400024-36400661	GM12878	blood:	n/a	chr19:36400289-36400300
13	MYC	chr19:36400109-36400656	NB4	blood:	n/a	n/a
14	PML	chr19:36399693-36400717	GM12878	blood:	n/a	n/a
15	ELF1	chr19:36400023-36400611	K562	blood:	n/a	chr19:36400266-36400277
16	STAT5A	chr19:36399901-36400808	GM12878	blood:	n/a	chr19:36400515-36400527 chr19:36400514-36400526
17	MTA3	chr19:36399875-36400735	GM12878	blood:	n/a	n/a
18	RELA	chr19:36399919-36400651	GM12891	blood:	n/a	n/a
19	MEF2A	chr19:36400018-36400506	GM12878	blood:	n/a	chr19:36400123-36400131
20	POLR2A	chr19:36399982-36400614	GM12878	blood:	n/a	n/a
21	RELA	chr19:36399997-36400616	GM15510	blood:	n/a	n/a
22	WRNIP1	chr19:36399929-36400538	GM12878	blood:	n/a	n/a
23	SPI1	chr19:36400055-36400725	HL-60	blood:	n/a	chr19:36400266-36400279 chr19:36400268-36400277 chr19:36400265-36400278
24	FOXM1	chr19:36399958-36400686	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:36400072-36400439	GM12878	blood:	n/a	n/a
26	SPI1	chr19:36399940-36400807	HL-60	blood:	n/a	chr19:36400266-36400279 chr19:36400268-36400277 chr19:36400265-36400278
27	SPI1	chr19:36400049-36400586	GM12891	blood:	n/a	chr19:36400266-36400279 chr19:36400268-36400277 chr19:36400265-36400278
28	SPI1	chr19:36399993-36400670	GM12891	blood:	n/a	chr19:36400266-36400279 chr19:36400268-36400277 chr19:36400265-36400278
29	ZNF143	chr19:36399930-36400400	GM12878	blood:	n/a	n/a
30	ELF1	chr19:36400027-36400431	K562	blood:	n/a	chr19:36400266-36400277
31	RUNX3	chr19:36399806-36400745	GM12878	blood:	n/a	n/a
32	MAX	chr19:36400058-36400712	NB4	blood:	n/a	n/a
33	ATF2	chr19:36400102-36400670	GM12878	blood:	n/a	n/a
34	EP300	chr19:36400052-36400754	GM12878	blood:	n/a	n/a
35	ELF1	chr19:36400008-36400775	GM12878	blood:	n/a	chr19:36400266-36400277
36	EP300	chr19:36400114-36400690	GM12878	blood:	n/a	n/a
37	MXI1	chr19:36400108-36400466	GM12878	blood:	n/a	n/a
38	MAX	chr19:36399880-36400599	K562	blood:	n/a	n/a
39	TEAD4	chr19:36399991-36400654	K562	blood:	n/a	n/a
40	RELA	chr19:36400044-36400590	GM19099	blood:	n/a	n/a
41	SPI1	chr19:36399965-36400616	GM12878	blood:	n/a	chr19:36400266-36400279 chr19:36400268-36400277 chr19:36400265-36400278
42	SP1	chr19:36400053-36400607	GM12878	blood:	n/a	chr19:36400406-36400418 chr19:36400408-36400417 chr19:36400407-36400421
43	MAZ	chr19:36400082-36400678	K562	blood:	n/a	n/a
44	MYC	chr19:36399993-36400619	K562	blood:	n/a	n/a
45	SPI1	chr19:36400118-36400574	K562	blood:	n/a	chr19:36400266-36400279 chr19:36400268-36400277 chr19:36400265-36400278
46	EBF1	chr19:36400081-36400626	GM12878	blood:	n/a	chr19:36400289-36400300
47	TCF12	chr19:36399988-36400668	GM12878	blood:	n/a	n/a
48	RCOR1	chr19:36399910-36400574	K562	blood:	n/a	n/a
49	POLR2A	chr19:36400063-36400580	GM12892	blood:	n/a	n/a
50	TCF12	chr19:36400047-36400603	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36389776..36392991-chr19:36393581..36401271,10	K562	blood:

Variant related genes	Relation type
TYROBP	TF binding region
ENSG00000167604	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11878548	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11879200	1.00[AMR][1000 genomes]
rs11879510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11880514	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11880605	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11881380	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11881594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11882484	1.00[AMR][1000 genomes]
rs11882681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11882893	0.86[AFR][1000 genomes]
rs14715	0.92[AFR][1000 genomes];1.00[AMR][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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36394800-36404000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:36395000-36400200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:36395000-36402800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:36395200-36400200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr19:36395600-36400200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:36395600-36401600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr19:36397400-36400600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr19:36397400-36401000	Enhancers	K562	blood
9	chr19:36397600-36401200	Weak transcription	Osteobl	bone
10	chr19:36398000-36400200	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr19:36398000-36400200	Active TSS	Brain Hippocampus Middle	brain
12	chr19:36398200-36400200	Weak transcription	HSMM	muscle
13	chr19:36398400-36401000	Enhancers	Fetal Thymus	thymus
14	chr19:36398400-36402800	Weak transcription	A549	lung
15	chr19:36398600-36400200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:36398600-36400600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:36398600-36400800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr19:36398600-36400800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr19:36398600-36401000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr19:36398600-36401000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:36398800-36400200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr19:36398800-36400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:36398800-36400400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:36399000-36406600	Enhancers	Primary B cells from peripheral blood	blood
25	chr19:36399200-36400200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:36399200-36400800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr19:36399200-36400800	Enhancers	Thymus	Thymus
28	chr19:36399200-36401000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr19:36399200-36401000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr19:36399200-36402800	Weak transcription	Pancreas	Pancrea
31	chr19:36399400-36400200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr19:36399400-36400400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:36399400-36400800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr19:36399400-36400800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:36399400-36402800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:36399600-36401000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr19:36399800-36400200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr19:36399800-36400800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr19:36399800-36400800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr19:36399800-36400800	Enhancers	Dnd41	blood
41	chr19:36399800-36401000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr19:36399800-36401000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr19:36400000-36400200	Enhancers	Liver	Liver
44	chr19:36400000-36400200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr19:36400000-36400400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr19:36400000-36400400	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr19:36400000-36400400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr19:36400000-36400600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr19:36400000-36400800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr19:36400000-36400800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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