Variant report

Variant	rs74063017
Chromosome Location	chr12:10869504-10869505
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	POLR2A	chr12:10869301-10869636	Hela-S3	cervix:	n/a	n/a
4	ZNF263	chr12:10868823-10869690	HEK293-T-REx	kidney:	n/a	n/a
5	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
6	POLR2A	chr12:10869049-10869837	HUVEC	blood vessel:	n/a	n/a
7	RCOR1	chr12:10869502-10869536	K562	blood:	n/a	n/a
8	REST	chr12:10869236-10869755	MCF-7	breast:	n/a	n/a
9	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
10	CTCF	chr12:10869380-10869530	HCPEpiC	choroid plexus:	n/a	n/a
11	POLR2A	chr12:10868941-10869687	H1-hESC	embryonic stem cell:	n/a	n/a
12	JUN	chr12:10869414-10869578	H1-hESC	embryonic stem cell:	n/a	chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869485-10869495 chr12:10869485-10869494
13	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
14	JUND	chr12:10869340-10869659	K562	blood:	n/a	chr12:10869484-10869495 chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869485-10869495 chr12:10869485-10869494
15	MAZ	chr12:10869406-10869516	K562	blood:	n/a	n/a
16	MAX	chr12:10869282-10869672	Hela-S3	cervix:	n/a	n/a
17	MYC	chr12:10869385-10869529	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr12:10869006-10870517	HUVEC	blood vessel:	n/a	n/a
19	MAZ	chr12:10869250-10869643	Hela-S3	cervix:	n/a	n/a
20	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
21	POLR2A	chr12:10868878-10871446	IMR90	lung:	n/a	n/a
22	MAX	chr12:10869095-10869836	HCT-116	colon:	n/a	n/a
23	JUND	chr12:10869172-10869734	Hela-S3	cervix:	n/a	chr12:10869484-10869495 chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869485-10869495 chr12:10869485-10869494
24	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
25	POLR2A	chr12:10868190-10871401	HUVEC	blood vessel:	n/a	n/a
26	STAT3	chr12:10868784-10870382	MCF10A-Er-Src	breast:	n/a	chr12:10870020-10870027
27	TCF12	chr12:10869114-10869830	ECC-1	luminal epithelium:	n/a	n/a
28	USF2	chr12:10869347-10869638	Hela-S3	cervix:	n/a	n/a
29	TCF7L2	chr12:10869273-10869665	HCT-116	colon:	n/a	chr12:10869485-10869494 chr12:10869486-10869495
30	POLR2A	chr12:10869482-10869529	MCF-7	breast:	n/a	n/a
31	FOSL1	chr12:10869116-10869758	HCT-116	colon:	n/a	chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869732-10869744 chr12:10869485-10869495 chr12:10869485-10869494
32	SMC3	chr12:10869300-10869665	Hela-S3	cervix:	n/a	n/a
33	FOSL2	chr12:10869309-10869614	A549	lung:	n/a	chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869485-10869495 chr12:10869485-10869494
34	STAT3	chr12:10869246-10869652	MCF10A-Er-Src	breast:	n/a	n/a
35	CHD1	chr12:10868107-10877330	IMR90	lung:	n/a	chr12:10876048-10876055 chr12:10875983-10875993
36	POLR2A	chr12:10869261-10869602	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr12:10869207-10869732	HCT-116	colon:	n/a	n/a
38	POLR2A	chr12:10869253-10877276	MCF10A-Er-Src	breast:	n/a	n/a
39	JUN	chr12:10869273-10869675	HUVEC	blood vessel:	n/a	chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869485-10869495 chr12:10869485-10869494
40	POLR2A	chr12:10868860-10869584	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr12:10869305-10869636	ProgFib	skin:	n/a	n/a
42	KAP1	chr12:10868264-10871553	U2OS	brain:	n/a	chr12:10869487-10869496
43	POLR2A	chr12:10869231-10869619	HCT-116	colon:	n/a	n/a
44	POLR2A	chr12:10869485-10869651	H1-hESC	embryonic stem cell:	n/a	n/a
45	FOSL2	chr12:10869280-10869776	MCF-7	breast:	n/a	chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869732-10869744 chr12:10869485-10869495 chr12:10869485-10869494
46	FOSL2	chr12:10869301-10869736	MCF-7	breast:	n/a	chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869485-10869495 chr12:10869485-10869494
47	JUND	chr12:10869300-10869602	A549	lung:	n/a	chr12:10869484-10869495 chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869485-10869495 chr12:10869485-10869494
48	POLR2A	chr12:10868519-10869603	HepG2	liver:	n/a	n/a
49	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
50	FOS	chr12:10869222-10869741	HUVEC	blood vessel:	n/a	chr12:10869489-10869497 chr12:10869486-10869495 chr12:10869485-10869495 chr12:10869485-10869494 chr12:10869484-10869495

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

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

rs_ID	r²[population]
rs7135949	1.00[AMR][1000 genomes]
rs74063019	1.00[AMR][1000 genomes]

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10849200-10870000	Strong transcription	Liver	Liver
2	chr12:10849600-10873600	Weak transcription	Brain Angular Gyrus	brain
3	chr12:10849800-10870400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:10849800-10871000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr12:10850000-10870000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:10850000-10873800	Weak transcription	Fetal Brain Male	brain
7	chr12:10850800-10870400	Strong transcription	Fetal Muscle Trunk	muscle
8	chr12:10852400-10873600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:10854800-10873600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:10861800-10870200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:10862400-10870200	Weak transcription	Fetal Heart	heart
12	chr12:10862800-10873600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:10862800-10874400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:10862800-10874600	Weak transcription	Spleen	Spleen
15	chr12:10863000-10869800	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:10863200-10870000	Weak transcription	Brain Substantia Nigra	brain
17	chr12:10863400-10870200	Weak transcription	Pancreas	Pancrea
18	chr12:10863400-10873600	Weak transcription	Colonic Mucosa	Colon
19	chr12:10863400-10873600	Weak transcription	Lung	lung
20	chr12:10863400-10874200	Weak transcription	Gastric	stomach
21	chr12:10864400-10870400	Strong transcription	Fetal Intestine Large	intestine
22	chr12:10865000-10869800	Strong transcription	Left Ventricle	heart
23	chr12:10865000-10870400	Strong transcription	HepG2	liver
24	chr12:10866000-10874200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:10867000-10873600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:10867200-10870000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:10867200-10870600	Strong transcription	GM12878-XiMat	blood
28	chr12:10867600-10871000	Weak transcription	Esophagus	oesophagus
29	chr12:10867800-10871800	Genic enhancers	Dnd41	blood
30	chr12:10868000-10870400	Strong transcription	Primary B cells from cord blood	blood
31	chr12:10868000-10871400	Enhancers	Fetal Thymus	thymus
32	chr12:10868200-10870600	Weak transcription	Fetal Stomach	stomach
33	chr12:10868200-10871600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:10868200-10871800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:10868200-10872200	Weak transcription	Fetal Intestine Small	intestine
36	chr12:10868400-10870000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:10868400-10870200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:10868400-10870800	Weak transcription	Fetal Lung	lung
39	chr12:10868400-10872400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:10868600-10870400	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr12:10868600-10874400	Flanking Active TSS	HUVEC	blood vessel
42	chr12:10868800-10869600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr12:10868800-10869800	Enhancers	Colon Smooth Muscle	Colon
44	chr12:10868800-10870000	Enhancers	Fetal Kidney	kidney
45	chr12:10868800-10870000	Genic enhancers	Fetal Muscle Leg	muscle
46	chr12:10868800-10870400	Enhancers	Placenta	Placenta
47	chr12:10868800-10870400	Transcr. at gene 5' and 3'	Hela-S3	cervix
48	chr12:10868800-10871200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:10868800-10871400	Enhancers	Ovary	ovary
50	chr12:10868800-10871600	Enhancers	Cortex derived primary cultured neurospheres	brain

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