Variant report

Variant	rs12287469
Chromosome Location	chr11:72472274-72472275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:72472159-72472520	IMR90	lung:	n/a	n/a
2	FOS	chr11:72472247-72472304	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr11:72472182-72472371	MCF10A-Er-Src	breast:	n/a	n/a
4	FOSL2	chr11:72471974-72472538	A549	lung:	n/a	n/a
5	RCOR1	chr11:72471587-72472980	IMR90	lung:	n/a	n/a
6	FOXA1	chr11:72472056-72472431	HepG2	liver:	n/a	n/a
7	KAP1	chr11:72471783-72472413	U2OS	brain:	n/a	n/a
8	MAZ	chr11:72472172-72472310	Hela-S3	cervix:	n/a	n/a
9	SETDB1	chr11:72471938-72472510	U2OS	brain:	n/a	n/a
10	FOXA2	chr11:72472009-72472461	A549	lung:	n/a	n/a
11	STAT3	chr11:72472179-72472372	MCF10A-Er-Src	breast:	n/a	n/a
12	FOXA2	chr11:72472135-72472449	A549	lung:	n/a	n/a
13	FOS	chr11:72472179-72472344	MCF10A-Er-Src	breast:	n/a	n/a
14	CEBPB	chr11:72472179-72472429	A549	lung:	n/a	n/a
15	STAT3	chr11:72472270-72472470	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72471822..72474020-chr11:72474362..72475948,2	MCF-7	breast:
2	chr11:72470854..72473966-chr11:72496751..72500448,3	MCF-7	breast:
3	chr11:72470647..72473547-chr11:72532655..72534550,2	MCF-7	breast:
4	chr11:72471570..72473320-chr11:72523043..72525354,2	MCF-7	breast:
5	chr11:72463034..72465961-chr11:72471928..72473986,2	K562	blood:
6	chr11:72467688..72472883-chr11:72486333..72493012,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000202522	TF binding region
STARD10	TF binding region
ENSG00000168010	Chromatin interaction
ENSG00000214530	Chromatin interaction
ENSG00000186635	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12419767	1.00[EUR][1000 genomes]
rs519201	1.00[EUR][1000 genomes]
rs55816648	1.00[EUR][1000 genomes]
rs56251316	1.00[EUR][1000 genomes]
rs57712040	1.00[EUR][1000 genomes]
rs57794067	0.81[AMR][1000 genomes]
rs58756839	1.00[EUR][1000 genomes]
rs59700555	1.00[EUR][1000 genomes]
rs60057195	1.00[EUR][1000 genomes]
rs61083756	1.00[EUR][1000 genomes]
rs615703	1.00[EUR][1000 genomes]
rs61661445	1.00[EUR][1000 genomes]
rs73543236	1.00[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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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 miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72464200-72475200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:72464400-72475200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:72464400-72475200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:72464400-72479200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:72464400-72483600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:72464400-72491400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr11:72464600-72473200	Weak transcription	GM12878-XiMat	blood
8	chr11:72464600-72473400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr11:72464600-72473600	Weak transcription	Primary B cells from cord blood	blood
10	chr11:72464600-72492000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:72464800-72473600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr11:72464800-72483200	Weak transcription	Fetal Thymus	thymus
13	chr11:72465000-72474000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:72466000-72475200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:72466200-72475200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:72466200-72475200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:72466200-72475200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:72469400-72472600	Enhancers	Fetal Heart	heart
19	chr11:72469600-72473800	Weak transcription	NHEK	skin
20	chr11:72470000-72472400	Enhancers	Brain Hippocampus Middle	brain
21	chr11:72470000-72474600	Weak transcription	A549	lung
22	chr11:72470000-72491400	Weak transcription	Aorta	Aorta
23	chr11:72470200-72474200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:72470200-72475000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:72470200-72482600	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:72470400-72473400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:72470400-72473800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:72470400-72473800	Weak transcription	Left Ventricle	heart
29	chr11:72470400-72477400	Weak transcription	Esophagus	oesophagus
30	chr11:72470400-72479000	Weak transcription	Right Ventricle	heart
31	chr11:72470400-72482000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:72470400-72482200	Weak transcription	Brain Angular Gyrus	brain
33	chr11:72470400-72482200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:72470400-72486800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr11:72470400-72491000	Weak transcription	Brain Germinal Matrix	brain
36	chr11:72470600-72473600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:72470600-72473600	Weak transcription	Liver	Liver
38	chr11:72470600-72474000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr11:72470600-72475200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:72470600-72477600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:72470600-72492000	Weak transcription	Primary T cells from cord blood	blood
42	chr11:72470800-72472400	Weak transcription	Placenta	Placenta
43	chr11:72470800-72473400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:72470800-72473600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:72470800-72473600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:72470800-72473600	Weak transcription	Spleen	Spleen
47	chr11:72470800-72473800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:72470800-72473800	Weak transcription	Gastric	stomach
49	chr11:72470800-72474000	Weak transcription	Stomach Mucosa	stomach
50	chr11:72470800-72474800	Weak transcription	Duodenum Mucosa	Duodenum

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