Variant report

Variant	rs11833740
Chromosome Location	chr12:10282987-10282988
allele	A/C
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	IRF4	chr12:10282581-10283097	GM12878	blood:	n/a	n/a
2	FOXM1	chr12:10282506-10283090	GM12878	blood:	n/a	n/a
3	SPI1	chr12:10282347-10283132	GM12878	blood:	n/a	chr12:10282852-10282861
4	BCLAF1	chr12:10282523-10283076	GM12878	blood:	n/a	chr12:10282852-10282861
5	NFIC	chr12:10282400-10283122	GM12878	blood:	n/a	n/a
6	STAT3	chr12:10282629-10283071	GM12878	blood:	n/a	chr12:10282852-10282863
7	RUNX3	chr12:10282491-10283105	GM12878	blood:	n/a	n/a
8	MAFK	chr12:10282733-10283102	HepG2	liver:	n/a	chr12:10282911-10282925 chr12:10282907-10282922 chr12:10282912-10282921 chr12:10282908-10282928 chr12:10282906-10282920 chr12:10282910-10282926 chr12:10282914-10282924
9	TCF3	chr12:10282677-10282997	GM12878	blood:	n/a	n/a
10	RELA	chr12:10282583-10282999	GM19193	blood:	n/a	n/a
11	MAFF	chr12:10282743-10283071	K562	blood:	n/a	chr12:10282911-10282925 chr12:10282905-10282923
12	SP1	chr12:10282596-10283020	GM12878	blood:	n/a	n/a
13	ATF2	chr12:10282555-10283116	GM12878	blood:	n/a	n/a
14	NFIC	chr12:10282405-10283131	GM12878	blood:	n/a	n/a
15	STAT5A	chr12:10282527-10283007	GM12878	blood:	n/a	chr12:10282852-10282863
16	MAFK	chr12:10282731-10283109	IMR90	lung:	n/a	chr12:10282911-10282925 chr12:10282907-10282922 chr12:10282912-10282921 chr12:10282908-10282928 chr12:10282906-10282920 chr12:10282910-10282926 chr12:10282914-10282924
17	PAX5	chr12:10282585-10283020	GM12878	blood:	n/a	n/a
18	ATF2	chr12:10282560-10283031	GM12878	blood:	n/a	n/a
19	MAFK	chr12:10282728-10283102	H1-hESC	embryonic stem cell:	n/a	chr12:10282911-10282925 chr12:10282907-10282922 chr12:10282912-10282921 chr12:10282908-10282928 chr12:10282906-10282920 chr12:10282910-10282926 chr12:10282914-10282924
20	MAFK	chr12:10282760-10283087	HepG2	liver:	n/a	chr12:10282911-10282925 chr12:10282907-10282922 chr12:10282912-10282921 chr12:10282908-10282928 chr12:10282906-10282920 chr12:10282910-10282926 chr12:10282914-10282924
21	MAFK	chr12:10282748-10283086	Hela-S3	cervix:	n/a	chr12:10282911-10282925 chr12:10282907-10282922 chr12:10282912-10282921 chr12:10282908-10282928 chr12:10282906-10282920 chr12:10282910-10282926 chr12:10282914-10282924
22	IKZF1	chr12:10282577-10283018	GM12878	blood:	n/a	n/a
23	SPI1	chr12:10282662-10283026	GM12891	blood:	n/a	chr12:10282852-10282861
24	RELA	chr12:10282588-10283047	GM19099	blood:	n/a	n/a
25	NFATC1	chr12:10282535-10283100	GM12878	blood:	n/a	n/a
26	RUNX3	chr12:10282517-10283091	GM12878	blood:	n/a	n/a
27	BATF	chr12:10282577-10283023	GM12878	blood:	n/a	chr12:10282771-10282782
28	BHLHE40	chr12:10282595-10283016	GM12878	blood:	n/a	n/a
29	NFATC1	chr12:10282513-10283069	GM12878	blood:	n/a	n/a
30	ETS1	chr12:10282646-10283035	GM12878	blood:	n/a	n/a
31	MAFK	chr12:10282468-10283416	GM12878	blood:	n/a	chr12:10282911-10282925 chr12:10282907-10282922 chr12:10282912-10282921 chr12:10282908-10282928 chr12:10282906-10282920 chr12:10282910-10282926 chr12:10282914-10282924
32	SPI1	chr12:10282685-10282988	GM12878	blood:	n/a	chr12:10282852-10282861
33	MAFK	chr12:10282747-10283090	K562	blood:	n/a	chr12:10282911-10282925 chr12:10282907-10282922 chr12:10282912-10282921 chr12:10282908-10282928 chr12:10282906-10282920 chr12:10282910-10282926 chr12:10282914-10282924
34	MTA3	chr12:10282506-10283144	GM12878	blood:	n/a	n/a
35	FOXM1	chr12:10282422-10283102	GM12878	blood:	n/a	n/a
36	MEF2A	chr12:10282503-10283070	GM12878	blood:	n/a	chr12:10282851-10282859
37	EP300	chr12:10282623-10283040	GM12878	blood:	n/a	chr12:10282848-10282857 chr12:10282847-10282861
38	MAFF	chr12:10282734-10283100	HepG2	liver:	n/a	chr12:10282911-10282925 chr12:10282905-10282923
39	RELA	chr12:10282600-10283083	GM12878	blood:	n/a	n/a
40	TBL1XR1	chr12:10282618-10282991	GM12878	blood:	n/a	n/a
41	IRF4	chr12:10282477-10283051	GM12878	blood:	n/a	n/a
42	MEF2A	chr12:10282501-10283013	GM12878	blood:	n/a	chr12:10282851-10282859
43	BCL11A	chr12:10282531-10283028	GM12878	blood:	n/a	chr12:10282852-10282861

Variant related genes	Relation type
CLEC7A	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11836494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11837849	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16910631	1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16910633	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17807926	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2130007	0.91[GIH][hapmap]
rs57679345	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv49827	chr12:10282985-10282989	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10280600-10283200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr12:10280600-10284600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:10281000-10283000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr12:10281200-10283000	Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:10281200-10285200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:10281400-10285000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:10281600-10283000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr12:10281600-10283600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:10281600-10283600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:10281600-10284200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:10281800-10283000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:10282000-10283400	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr12:10282200-10283000	Enhancers	Primary B cells from peripheral blood	blood
14	chr12:10282400-10283000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr12:10282400-10283400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:10282400-10283600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:10282400-10283800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:10282400-10284000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:10282400-10284400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:10282600-10283000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr12:10282600-10283000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr12:10282600-10283000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:10282600-10283000	Enhancers	HUVEC	blood vessel
24	chr12:10282600-10283200	Enhancers	Primary T cells from cord blood	blood
25	chr12:10282600-10283200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:10282600-10283200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:10282600-10283200	Flanking Active TSS	GM12878-XiMat	blood
28	chr12:10282600-10283400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:10282600-10284600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:10282800-10283000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:10282800-10283200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:10282800-10283200	Enhancers	NHEK	skin
33	chr12:10282800-10283600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr12:10282800-10284200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:10282800-10284200	Weak transcription	Placenta	Placenta
36	chr12:10282800-10284400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr12:10282800-10284400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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