Variant report

Variant	rs12275192
Chromosome Location	chr11:33033427-33033428
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	EP300	chr11:33033158-33033448	SK-N-SH_RA	brain:	n/a	chr11:33033227-33033236 chr11:33033277-33033291 chr11:33033226-33033240
2	RAD21	chr11:33033165-33033704	Hela-S3	cervix:	n/a	n/a
3	RELA	chr11:33033063-33033681	GM12878	blood:	n/a	n/a
4	JUND	chr11:33032926-33033762	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:33033233-33033887	Hela-S3	cervix:	n/a	n/a
6	SPI1	chr11:33032980-33033455	HL-60	blood:	n/a	chr11:33033225-33033238 chr11:33033227-33033236 chr11:33033224-33033237 chr11:33033224-33033237
7	NFIC	chr11:33032956-33033627	SK-N-SH	brain:	n/a	n/a
8	FOS	chr11:33032904-33033664	MCF10A-Er-Src	breast:	n/a	n/a
9	GATA3	chr11:33032912-33033794	SK-N-SH	brain:	n/a	chr11:33033228-33033238
10	RCOR1	chr11:33033026-33033789	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr11:33033107-33033479	IMR90	lung:	n/a	n/a
12	EP300	chr11:33033023-33033806	Hela-S3	cervix:	n/a	chr11:33033227-33033236 chr11:33033277-33033291 chr11:33033226-33033240
13	CEBPB	chr11:33032920-33033826	Hela-S3	cervix:	n/a	n/a
14	FOSL2	chr11:33032841-33033751	SK-N-SH	brain:	n/a	n/a
15	JUND	chr11:33032991-33033668	SK-N-SH	brain:	n/a	n/a
16	BRCA1	chr11:33033062-33033753	Hela-S3	cervix:	n/a	n/a
17	TCF12	chr11:33032792-33033747	SK-N-SH	brain:	n/a	n/a
18	RELA	chr11:33033001-33033753	GM12891	blood:	n/a	n/a
19	GTF3C2	chr11:33032862-33033547	Hela-S3	cervix:	n/a	n/a
20	NFIC	chr11:33032927-33033822	GM12878	blood:	n/a	n/a
21	MAFK	chr11:33032882-33033756	Hela-S3	cervix:	n/a	chr11:33033078-33033087 chr11:33033081-33033092 chr11:33033081-33033092 chr11:33033076-33033092 chr11:33033080-33033091 chr11:33033076-33033091 chr11:33033079-33033093
22	SPI1	chr11:33033061-33033461	GM12891	blood:	n/a	chr11:33033225-33033238 chr11:33033227-33033236 chr11:33033224-33033237 chr11:33033224-33033237
23	GATA3	chr11:33032962-33033682	SK-N-SH	brain:	n/a	chr11:33033228-33033238
24	POLR2A	chr11:33032979-33033569	SK-N-SH	brain:	n/a	n/a
25	SPI1	chr11:33033020-33033427	GM12891	blood:	n/a	chr11:33033225-33033238 chr11:33033227-33033236 chr11:33033224-33033237 chr11:33033224-33033237
26	PBX3	chr11:33032965-33033650	SK-N-SH	brain:	n/a	n/a
27	RUNX3	chr11:33032977-33033466	GM12878	blood:	n/a	n/a
28	STAT3	chr11:33033063-33033749	Hela-S3	cervix:	n/a	n/a
29	RFX5	chr11:33032975-33033704	Hela-S3	cervix:	n/a	chr11:33033477-33033490
30	FOS	chr11:33032936-33033563	MCF10A-Er-Src	breast:	n/a	n/a
31	EP300	chr11:33033039-33033753	GM12878	blood:	n/a	chr11:33033227-33033236 chr11:33033277-33033291 chr11:33033226-33033240
32	STAT3	chr11:33033165-33033427	GM12878	blood:	n/a	n/a
33	EP300	chr11:33033061-33033769	GM12878	blood:	n/a	chr11:33033227-33033236 chr11:33033277-33033291 chr11:33033226-33033240
34	EP300	chr11:33032878-33033688	SK-N-SH	brain:	n/a	chr11:33033227-33033236 chr11:33033277-33033291 chr11:33033226-33033240
35	FOS	chr11:33032907-33033625	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr11:33032903-33033624	MCF10A-Er-Src	breast:	n/a	n/a
37	PAX5	chr11:33033409-33033919	GM12878	blood:	n/a	n/a
38	MXI1	chr11:33033037-33033688	Hela-S3	cervix:	n/a	n/a
39	MYC	chr11:33033267-33033455	NB4	blood:	n/a	n/a
40	RUNX3	chr11:33032964-33033679	GM12878	blood:	n/a	n/a
41	SPI1	chr11:33032853-33033637	GM12878	blood:	n/a	chr11:33033225-33033238 chr11:33033227-33033236 chr11:33033224-33033237 chr11:33033224-33033237
42	STAT3	chr11:33033134-33033495	MCF10A-Er-Src	breast:	n/a	n/a
43	ATF2	chr11:33033025-33033631	GM12878	blood:	n/a	n/a
44	MYC	chr11:33033101-33033470	MCF10A-Er-Src	breast:	n/a	n/a
45	SPI1	chr11:33033018-33033434	HL-60	blood:	n/a	chr11:33033225-33033238 chr11:33033227-33033236 chr11:33033224-33033237 chr11:33033224-33033237
46	TCF12	chr11:33032817-33033790	SK-N-SH	brain:	n/a	n/a
47	JUN	chr11:33032977-33033751	Hela-S3	cervix:	n/a	n/a
48	ZNF384	chr11:33032995-33033488	GM12878	blood:	n/a	n/a
49	CTCF	chr11:33033340-33033490	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:33032509..33034576-chr11:33039239..33041376,2	MCF-7	breast:
2	chr11:33031621..33033657-chr11:33034737..33037434,2	K562	blood:

Variant related genes	Relation type
DEPDC7	TF binding region
ENSG00000121690	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11032116	1.00[AMR][1000 genomes]
rs12269825	1.00[AMR][1000 genomes]
rs12276953	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279177	0.82[AFR][1000 genomes]
rs12294976	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv1040484	chr11:32951066-33093204	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1046198	chr11:32954100-33075142	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv2762904	chr11:32969258-33586535	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1041149	chr11:32981164-33496670	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv1053823	chr11:32981164-33533356	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv897194	chr11:32993887-33471804	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
11	nsv1040572	chr11:33008191-33518964	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
12	nsv540989	chr11:33008191-33518964	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv1042860	chr11:33008191-33562490	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
14	nsv540990	chr11:33008191-33562490	Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
15	nsv533840	chr11:33008192-33595324	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
16	nsv1051521	chr11:33008435-33239765	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
17	nsv540991	chr11:33008435-33239765	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
18	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
19	nsv897195	chr11:33012493-33559186	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
20	nsv983180	chr11:33026769-33041930	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv1053344	chr11:33028973-33499346	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33031600-33034400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr11:33031800-33034200	Enhancers	Hela-S3	cervix
3	chr11:33032000-33034400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr11:33032000-33034800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr11:33032200-33034400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr11:33032200-33034400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr11:33032400-33034200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:33032400-33034200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:33032400-33034400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:33032400-33034400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr11:33032600-33033600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:33032600-33034000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:33032600-33034000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:33032600-33034000	Enhancers	HMEC	breast
15	chr11:33032600-33034000	Enhancers	NHDF-Ad	bronchial
16	chr11:33032600-33034200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr11:33032600-33034200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:33032600-33034200	Enhancers	Fetal Thymus	thymus
19	chr11:33032600-33034200	Enhancers	Thymus	Thymus
20	chr11:33032600-33034200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr11:33032600-33034200	Enhancers	NHEK	skin
22	chr11:33032600-33034400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr11:33032600-33034400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:33032600-33034600	Enhancers	Fetal Intestine Large	intestine
25	chr11:33032800-33033800	Enhancers	Colonic Mucosa	Colon
26	chr11:33032800-33034000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:33032800-33034000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:33032800-33034000	Weak transcription	HSMM	muscle
29	chr11:33032800-33034000	Enhancers	NHLF	lung
30	chr11:33032800-33034200	Enhancers	Primary hematopoietic stem cells	blood
31	chr11:33032800-33034400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:33033000-33033600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:33033000-33033600	Enhancers	Primary B cells from cord blood	blood
34	chr11:33033000-33033600	Enhancers	A549	lung
35	chr11:33033000-33034000	Enhancers	HepG2	liver
36	chr11:33033000-33034600	Enhancers	Fetal Intestine Small	intestine
37	chr11:33033200-33033600	Enhancers	Brain Hippocampus Middle	brain
38	chr11:33033200-33033600	Flanking Active TSS	Osteobl	bone
39	chr11:33033200-33033800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:33033200-33034000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr11:33033200-33034000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr11:33033400-33033600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr11:33033400-33033600	Active TSS	Duodenum Mucosa	Duodenum
44	chr11:33033400-33033600	Flanking Active TSS	Dnd41	blood
45	chr11:33033400-33033600	Enhancers	GM12878-XiMat	blood
46	chr11:33033400-33033600	Enhancers	NH-A	brain
47	chr11:33033400-33033800	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr11:33033400-33033800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr11:33033400-33033800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:33033400-33033800	Flanking Active TSS	Liver	Liver

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