Variant report

Variant	rs11053914
Chromosome Location	chr12:10869297-10869298
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	SETDB1	chr12:10868701-10869873	U2OS	brain:	n/a	n/a
2	SP1	chr12:10869103-10869912	HCT-116	colon:	n/a	chr12:10869226-10869233
3	ZNF263	chr12:10868823-10869690	HEK293-T-REx	kidney:	n/a	n/a
4	FOS	chr12:10868801-10870381	MCF10A-Er-Src	breast:	n/a	chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869732-10869744 chr12:10869485-10869495 chr12:10869485-10869494 chr12:10869484-10869495
5	POLR2A	chr12:10869049-10869837	HUVEC	blood vessel:	n/a	n/a
6	REST	chr12:10869236-10869755	MCF-7	breast:	n/a	n/a
7	JUND	chr12:10869138-10869645	SK-N-SH	brain:	n/a	chr12:10869484-10869495 chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869485-10869495 chr12:10869485-10869494
8	POLR2A	chr12:10868941-10869687	H1-hESC	embryonic stem cell:	n/a	n/a
9	FOS	chr12:10869255-10870381	MCF10A-Er-Src	breast:	n/a	chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869732-10869744 chr12:10869485-10869495 chr12:10869485-10869494 chr12:10869484-10869495
10	MAX	chr12:10869282-10869672	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:10869006-10870517	HUVEC	blood vessel:	n/a	n/a
12	MAZ	chr12:10869250-10869643	Hela-S3	cervix:	n/a	n/a
13	JUND	chr12:10869104-10869854	HCT-116	colon:	n/a	chr12:10869484-10869495 chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869732-10869744 chr12:10869485-10869495 chr12:10869485-10869494
14	POLR2A	chr12:10868878-10871446	IMR90	lung:	n/a	n/a
15	MAX	chr12:10869095-10869836	HCT-116	colon:	n/a	n/a
16	JUND	chr12:10869172-10869734	Hela-S3	cervix:	n/a	chr12:10869484-10869495 chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869485-10869495 chr12:10869485-10869494
17	FOS	chr12:10869258-10869743	MCF10A-Er-Src	breast:	n/a	chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869485-10869495 chr12:10869485-10869494 chr12:10869484-10869495
18	POLR2A	chr12:10868190-10871401	HUVEC	blood vessel:	n/a	n/a
19	STAT3	chr12:10868784-10870382	MCF10A-Er-Src	breast:	n/a	chr12:10870020-10870027
20	TCF12	chr12:10869114-10869830	ECC-1	luminal epithelium:	n/a	n/a
21	TCF7L2	chr12:10869273-10869665	HCT-116	colon:	n/a	chr12:10869485-10869494 chr12:10869486-10869495
22	FOSL1	chr12:10869116-10869758	HCT-116	colon:	n/a	chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869732-10869744 chr12:10869485-10869495 chr12:10869485-10869494
23	STAT3	chr12:10869246-10869652	MCF10A-Er-Src	breast:	n/a	n/a
24	CHD1	chr12:10868107-10877330	IMR90	lung:	n/a	chr12:10876048-10876055 chr12:10875983-10875993
25	POLR2A	chr12:10869261-10869602	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr12:10869207-10869732	HCT-116	colon:	n/a	n/a
27	POLR2A	chr12:10869253-10877276	MCF10A-Er-Src	breast:	n/a	n/a
28	JUN	chr12:10869273-10869675	HUVEC	blood vessel:	n/a	chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869485-10869495 chr12:10869485-10869494
29	POLR2A	chr12:10868860-10869584	Hela-S3	cervix:	n/a	n/a
30	KAP1	chr12:10868264-10871553	U2OS	brain:	n/a	chr12:10869487-10869496
31	POLR2A	chr12:10869231-10869619	HCT-116	colon:	n/a	n/a
32	FOSL2	chr12:10869280-10869776	MCF-7	breast:	n/a	chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869732-10869744 chr12:10869485-10869495 chr12:10869485-10869494
33	POLR2A	chr12:10868519-10869603	HepG2	liver:	n/a	n/a
34	JUND	chr12:10869274-10869648	H1-hESC	embryonic stem cell:	n/a	chr12:10869484-10869495 chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869485-10869495 chr12:10869485-10869494
35	FOS	chr12:10869222-10869741	HUVEC	blood vessel:	n/a	chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869485-10869495 chr12:10869485-10869494 chr12:10869484-10869495
36	STAT3	chr12:10868971-10870332	MCF10A-Er-Src	breast:	n/a	chr12:10870020-10870027
37	FOS	chr12:10868814-10869840	MCF10A-Er-Src	breast:	n/a	chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869732-10869744 chr12:10869485-10869495 chr12:10869485-10869494 chr12:10869484-10869495
38	STAT3	chr12:10868802-10870398	MCF10A-Er-Src	breast:	n/a	chr12:10870020-10870027
39	JUND	chr12:10869192-10869777	MCF-7	breast:	n/a	chr12:10869484-10869495 chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869732-10869744 chr12:10869485-10869495 chr12:10869485-10869494
40	JUND	chr12:10869086-10869931	HCT-116	colon:	n/a	chr12:10869484-10869495 chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869732-10869744 chr12:10869485-10869495 chr12:10869485-10869494
41	MAX	chr12:10869280-10869630	MCF-7	breast:	n/a	n/a
42	MYC	chr12:10869076-10869661	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr12:10869226-10869613	Hela-S3	cervix:	n/a	n/a
44	MYC	chr12:10869105-10869668	MCF10A-Er-Src	breast:	n/a	n/a
45	MAZ	chr12:10868462-10870231	IMR90	lung:	n/a	n/a
46	FOSL1	chr12:10869175-10869885	HCT-116	colon:	n/a	chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869732-10869744 chr12:10869485-10869495 chr12:10869485-10869494
47	TBP	chr12:10869273-10869779	Hela-S3	cervix:	n/a	n/a
48	SP1	chr12:10869018-10869957	HCT-116	colon:	n/a	chr12:10869226-10869233
49	FOSL2	chr12:10869264-10869675	SK-N-SH	brain:	n/a	chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869485-10869495 chr12:10869485-10869494
50	POLR2A	chr12:10869131-10869970	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:10861409..10864627-chr12:10867367..10871236,5	MCF-7	breast:
2	chr12:10856587..10858112-chr12:10867564..10869315,2	MCF-7	breast:
3	chr12:10867078..10869810-chr12:10870814..10872869,3	K562	blood:

Variant related genes	Relation type
YBX3	TF binding region
ENSG00000060138	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10845205	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10845206	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10845207	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11053902	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11053904	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11053909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11053911	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11053917	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1108542	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11830560	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11830873	1.00[CEU][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11838144	1.00[CEU][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12231922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423741	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12425492	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581675	0.90[ASN][1000 genomes]
rs2083958	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4445727	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7136530	0.89[ASN][1000 genomes]
rs7138223	0.83[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044637	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044645	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7310690	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs7963875	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9668997	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10845800-10869400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:10848800-10869400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:10849200-10870000	Strong transcription	Liver	Liver
4	chr12:10849400-10869400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:10849600-10873600	Weak transcription	Brain Angular Gyrus	brain
6	chr12:10849800-10870400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:10849800-10871000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:10850000-10870000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:10850000-10873800	Weak transcription	Fetal Brain Male	brain
10	chr12:10850800-10870400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr12:10852400-10873600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:10854800-10873600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:10861800-10870200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:10862400-10870200	Weak transcription	Fetal Heart	heart
15	chr12:10862800-10873600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:10862800-10874400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:10862800-10874600	Weak transcription	Spleen	Spleen
18	chr12:10863000-10869800	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:10863200-10870000	Weak transcription	Brain Substantia Nigra	brain
20	chr12:10863400-10870200	Weak transcription	Pancreas	Pancrea
21	chr12:10863400-10873600	Weak transcription	Colonic Mucosa	Colon
22	chr12:10863400-10873600	Weak transcription	Lung	lung
23	chr12:10863400-10874200	Weak transcription	Gastric	stomach
24	chr12:10864400-10870400	Strong transcription	Fetal Intestine Large	intestine
25	chr12:10865000-10869800	Strong transcription	Left Ventricle	heart
26	chr12:10865000-10870400	Strong transcription	HepG2	liver
27	chr12:10866000-10874200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:10867000-10873600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:10867200-10870000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:10867200-10870600	Strong transcription	GM12878-XiMat	blood
31	chr12:10867600-10871000	Weak transcription	Esophagus	oesophagus
32	chr12:10867800-10871800	Genic enhancers	Dnd41	blood
33	chr12:10868000-10869400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr12:10868000-10870400	Strong transcription	Primary B cells from cord blood	blood
35	chr12:10868000-10871400	Enhancers	Fetal Thymus	thymus
36	chr12:10868200-10869400	Strong transcription	K562	blood
37	chr12:10868200-10870600	Weak transcription	Fetal Stomach	stomach
38	chr12:10868200-10871600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:10868200-10871800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:10868200-10872200	Weak transcription	Fetal Intestine Small	intestine
41	chr12:10868400-10870000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:10868400-10870200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:10868400-10870800	Weak transcription	Fetal Lung	lung
44	chr12:10868400-10872400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:10868600-10869400	Flanking Active TSS	NHEK	skin
46	chr12:10868600-10870400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr12:10868600-10874400	Flanking Active TSS	HUVEC	blood vessel
48	chr12:10868800-10869600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr12:10868800-10869800	Enhancers	Colon Smooth Muscle	Colon
50	chr12:10868800-10870000	Enhancers	Fetal Kidney	kidney

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