Variant report

Variant	rs11053623
Chromosome Location	chr12:10282736-10282737
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	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	PML	chr12:10282665-10282923	GM12878	blood:	n/a	n/a
8	RUNX3	chr12:10282491-10283105	GM12878	blood:	n/a	n/a
9	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
10	EP300	chr12:10282630-10282985	GM12878	blood:	n/a	chr12:10282848-10282857 chr12:10282847-10282861
11	TCF3	chr12:10282677-10282997	GM12878	blood:	n/a	n/a
12	RELA	chr12:10282583-10282999	GM19193	blood:	n/a	n/a
13	MEF2C	chr12:10282535-10282985	GM12878	blood:	n/a	chr12:10282851-10282859
14	SP1	chr12:10282596-10283020	GM12878	blood:	n/a	n/a
15	ATF2	chr12:10282555-10283116	GM12878	blood:	n/a	n/a
16	NFIC	chr12:10282405-10283131	GM12878	blood:	n/a	n/a
17	BCL11A	chr12:10282669-10282955	GM12878	blood:	n/a	chr12:10282852-10282861
18	STAT5A	chr12:10282527-10283007	GM12878	blood:	n/a	chr12:10282852-10282863
19	RCOR1	chr12:10282637-10282937	GM12878	blood:	n/a	n/a
20	SPI1	chr12:10282673-10282968	GM12891	blood:	n/a	chr12:10282852-10282861
21	BATF	chr12:10282534-10282970	GM12878	blood:	n/a	chr12:10282771-10282782
22	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
23	PAX5	chr12:10282585-10283020	GM12878	blood:	n/a	n/a
24	ATF2	chr12:10282560-10283031	GM12878	blood:	n/a	n/a
25	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
26	IKZF1	chr12:10282577-10283018	GM12878	blood:	n/a	n/a
27	SPI1	chr12:10282662-10283026	GM12891	blood:	n/a	chr12:10282852-10282861
28	RELA	chr12:10282588-10283047	GM19099	blood:	n/a	n/a
29	NFATC1	chr12:10282535-10283100	GM12878	blood:	n/a	n/a
30	RUNX3	chr12:10282517-10283091	GM12878	blood:	n/a	n/a
31	BATF	chr12:10282577-10283023	GM12878	blood:	n/a	chr12:10282771-10282782
32	POU2F2	chr12:10282646-10282921	GM12878	blood:	n/a	n/a
33	BHLHE40	chr12:10282595-10283016	GM12878	blood:	n/a	n/a
34	NFATC1	chr12:10282513-10283069	GM12878	blood:	n/a	n/a
35	ETS1	chr12:10282646-10283035	GM12878	blood:	n/a	n/a
36	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
37	SPI1	chr12:10282685-10282988	GM12878	blood:	n/a	chr12:10282852-10282861
38	STAT5A	chr12:10282595-10282963	GM12878	blood:	n/a	chr12:10282852-10282863
39	MTA3	chr12:10282506-10283144	GM12878	blood:	n/a	n/a
40	FOXM1	chr12:10282422-10283102	GM12878	blood:	n/a	n/a
41	MEF2A	chr12:10282503-10283070	GM12878	blood:	n/a	chr12:10282851-10282859
42	EP300	chr12:10282623-10283040	GM12878	blood:	n/a	chr12:10282848-10282857 chr12:10282847-10282861
43	MAFF	chr12:10282734-10283100	HepG2	liver:	n/a	chr12:10282911-10282925 chr12:10282905-10282923
44	RELA	chr12:10282600-10283083	GM12878	blood:	n/a	n/a
45	TBL1XR1	chr12:10282618-10282991	GM12878	blood:	n/a	n/a
46	IRF4	chr12:10282477-10283051	GM12878	blood:	n/a	n/a
47	MEF2A	chr12:10282501-10283013	GM12878	blood:	n/a	chr12:10282851-10282859
48	BCL11A	chr12:10282531-10283028	GM12878	blood:	n/a	chr12:10282852-10282861
49	EBF1	chr12:10282652-10282948	GM12878	blood:	n/a	chr12:10282732-10282743

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC7A-1	chr12:10282579-10282782	NONHSAT026865

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:8)

rs_ID	r²[population]
rs1001449	1.00[CEU][hapmap]
rs11053590	1.00[CEU][hapmap]
rs11053607	1.00[CEU][hapmap]
rs11053615	1.00[CEU][hapmap]
rs11053627	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11053628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12227725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309870	1.00[CEU][hapmap]

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	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10280400-10282800	Active TSS	Brain Hippocampus Middle	brain
2	chr12:10280600-10283200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr12:10280600-10284600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:10280800-10282800	Active TSS	Primary monocytes fromperipheralblood	blood
5	chr12:10281000-10282800	Active TSS	Brain Anterior Caudate	brain
6	chr12:10281000-10283000	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr12:10281200-10282800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:10281200-10282800	Active TSS	Duodenum Mucosa	Duodenum
9	chr12:10281200-10283000	Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:10281200-10285200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:10281400-10282800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr12:10281400-10285000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:10281600-10282800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:10281600-10283000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr12:10281600-10283600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:10281600-10283600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:10281600-10284200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:10281800-10282800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:10281800-10282800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:10281800-10282800	Active TSS	Fetal Muscle Leg	muscle
21	chr12:10281800-10282800	Active TSS	Placenta	Placenta
22	chr12:10281800-10283000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:10282000-10282800	Active TSS	Liver	Liver
24	chr12:10282000-10283400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr12:10282200-10282800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:10282200-10283000	Enhancers	Primary B cells from peripheral blood	blood
27	chr12:10282400-10283000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr12:10282400-10283400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:10282400-10283600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:10282400-10283800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:10282400-10284000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr12:10282400-10284400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr12:10282600-10282800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:10282600-10283000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr12:10282600-10283000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr12:10282600-10283000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:10282600-10283000	Enhancers	HUVEC	blood vessel
38	chr12:10282600-10283200	Enhancers	Primary T cells from cord blood	blood
39	chr12:10282600-10283200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr12:10282600-10283200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:10282600-10283200	Flanking Active TSS	GM12878-XiMat	blood
42	chr12:10282600-10283400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:10282600-10284600	Enhancers	HUES64 Cell Line	embryonic stem cell

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