Variant report

Variant	rs12281446
Chromosome Location	chr11:59323184-59323185
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	STAT5A	chr11:59323134-59324221	GM12878	blood:	n/a	chr11:59324007-59324019
2	USF2	chr11:59323049-59323271	HepG2	liver:	n/a	n/a
3	KAP1	chr11:59322970-59325229	HEK293	kidney:	n/a	n/a
4	ZNF263	chr11:59323027-59325234	HEK293-T-REx	kidney:	n/a	chr11:59324054-59324063 chr11:59323686-59323695 chr11:59323725-59323746
5	BACH1	chr11:59323169-59324218	H1-hESC	embryonic stem cell:	n/a	n/a
6	KAP1	chr11:59323156-59325578	U2OS	brain:	n/a	n/a
7	MAX	chr11:59323174-59325353	A549	lung:	n/a	chr11:59323848-59323859 chr11:59323849-59323859 chr11:59323849-59323858 chr11:59323848-59323858 chr11:59323848-59323859 chr11:59323848-59323858 chr11:59323849-59323859 chr11:59323847-59323860 chr11:59323848-59323859 chr11:59323847-59323860
8	SETDB1	chr11:59322630-59323200	U2OS	brain:	n/a	n/a
9	SIN3A	chr11:59323173-59325762	H1-hESC	embryonic stem cell:	n/a	chr11:59323848-59323857 chr11:59323850-59323859
10	SREBP2	chr11:59323113-59325778	GM12878	blood:	n/a	n/a
11	MTA3	chr11:59323169-59325230	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:59322188..59323808-chr11:59380792..59382700,2	K562	blood:
2	chr11:59321356..59325949-chr11:59373523..59377145,4	K562	blood:
3	chr11:59316717..59319546-chr11:59322343..59325398,3	MCF-7	breast:
4	chr11:59322297..59324135-chr11:59434971..59436784,3	K562	blood:
5	chr11:59322976..59324823-chr11:59375645..59377849,2	K562	blood:
6	chr11:59322974..59324726-chr11:59383505..59386362,2	K562	blood:

Variant related genes	Relation type
RNU7-58P	TF binding region
ENSG00000110048	Chromatin interaction
ENSG00000255139	Chromatin interaction
ENSG00000166889	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11230007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275697	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275857	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs12275939	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12276264	0.94[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279069	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12280801	1.00[AMR][1000 genomes]
rs12282534	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282585	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287360	1.00[AMR][1000 genomes]
rs12291105	1.00[AMR][1000 genomes]
rs12292726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2228289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55861319	1.00[AMR][1000 genomes]
rs55924869	1.00[AMR][1000 genomes]
rs56198198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57004175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57174205	1.00[AMR][1000 genomes]
rs58462134	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60249922	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7117032	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs73484843	1.00[AMR][1000 genomes]
rs73484845	1.00[AMR][1000 genomes]
rs73484869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484872	1.00[AFR][1000 genomes]
rs73484887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486954	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486999	1.00[AMR][1000 genomes]
rs73488817	1.00[AMR][1000 genomes]
rs73488858	1.00[AMR][1000 genomes]
rs7949552	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59319000-59323200	Weak transcription	Lung	lung
2	chr11:59319000-59323200	Weak transcription	Pancreas	Pancrea
3	chr11:59319000-59323200	Weak transcription	Spleen	Spleen
4	chr11:59319000-59327800	Weak transcription	Stomach Mucosa	stomach
5	chr11:59319200-59323200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:59319200-59323200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:59319200-59323200	Weak transcription	Colonic Mucosa	Colon
8	chr11:59319200-59323200	Weak transcription	Left Ventricle	heart
9	chr11:59319400-59323200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:59319400-59323400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:59319600-59323200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:59319600-59323200	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:59319600-59323200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:59319600-59323400	Weak transcription	Fetal Heart	heart
15	chr11:59319800-59323200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:59319800-59323200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:59319800-59323200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:59319800-59323200	Weak transcription	Right Atrium	heart
19	chr11:59319800-59323200	Weak transcription	Dnd41	blood
20	chr11:59320000-59323200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:59320000-59323200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:59320000-59323200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:59320000-59323200	Weak transcription	Aorta	Aorta
24	chr11:59320200-59323200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:59320200-59323200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:59320600-59323200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:59320600-59323200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:59320600-59323200	Weak transcription	Hela-S3	cervix
29	chr11:59321000-59323200	Weak transcription	Ovary	ovary
30	chr11:59322800-59323200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:59322800-59323400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr11:59322800-59325800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:59322800-59326000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:59322800-59326200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr11:59322800-59329000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr11:59323000-59323200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
37	chr11:59323000-59323200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:59323000-59323200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:59323000-59323200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:59323000-59323200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr11:59323000-59323200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:59323000-59323200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:59323000-59323200	Bivalent Enhancer	Primary T cells from cord blood	blood
44	chr11:59323000-59323200	Enhancers	Primary T cells fromperipheralblood	blood
45	chr11:59323000-59323200	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr11:59323000-59323200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr11:59323000-59323200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:59323000-59323200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:59323000-59323200	Active TSS	Brain Hippocampus Middle	brain
50	chr11:59323000-59323200	Active TSS	Fetal Intestine Small	intestine

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