Variant report

Variant	rs12139044
Chromosome Location	chr1:172716065-172716066
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	GATA3	chr1:172715121-172716428	MCF-7	breast:	n/a	chr1:172715886-172715896 chr1:172715585-172715592 chr1:172715882-172715903 chr1:172715341-172715351 chr1:172715987-172715996
2	EP300	chr1:172715188-172716116	A549	lung:	n/a	chr1:172715810-172715817 chr1:172715668-172715677
3	NFIC	chr1:172715025-172716104	SK-N-SH	brain:	n/a	chr1:172715863-172715880
4	TCF7L2	chr1:172715345-172716151	MCF-7	breast:	n/a	n/a
5	SRF	chr1:172715150-172716074	HCT-116	colon:	n/a	n/a
6	JUND	chr1:172715079-172716115	HCT-116	colon:	n/a	chr1:172715668-172715677 chr1:172715670-172715677 chr1:172715667-172715678 chr1:172715668-172715678
7	JUND	chr1:172715429-172716239	MCF-7	breast:	n/a	chr1:172715668-172715677 chr1:172715670-172715677 chr1:172715667-172715678 chr1:172715668-172715678
8	SP1	chr1:172715021-172716070	HCT-116	colon:	n/a	n/a
9	SIN3AK20	chr1:172715278-172716373	MCF-7	breast:	n/a	n/a
10	FOXA2	chr1:172715330-172716131	HepG2	liver:	n/a	n/a
11	HDAC2	chr1:172715413-172716124	MCF-7	breast:	n/a	n/a
12	SIN3AK20	chr1:172715352-172716366	MCF-7	breast:	n/a	n/a
13	GATA3	chr1:172715205-172716187	SK-N-SH	brain:	n/a	chr1:172715886-172715896 chr1:172715585-172715592 chr1:172715882-172715903 chr1:172715341-172715351 chr1:172715987-172715996
14	NR3C1	chr1:172715123-172716103	A549	lung:	n/a	chr1:172715640-172715654 chr1:172716095-172716102 chr1:172715636-172715657 chr1:172715639-172715655 chr1:172715639-172715655 chr1:172715639-172715655 chr1:172715639-172715655
15	TCF12	chr1:172715301-172716158	MCF-7	breast:	n/a	n/a
16	NR3C1	chr1:172715014-172716144	A549	lung:	n/a	chr1:172715640-172715654 chr1:172716095-172716102 chr1:172715636-172715657 chr1:172715639-172715655 chr1:172715639-172715655 chr1:172715639-172715655 chr1:172715639-172715655
17	HDAC2	chr1:172715297-172716128	MCF-7	breast:	n/a	n/a
18	BCL3	chr1:172715381-172716114	A549	lung:	n/a	chr1:172715654-172715663
19	USF1	chr1:172715394-172716144	A549	lung:	n/a	n/a
20	CBX3	chr1:172714860-172716092	HCT-116	colon:	n/a	n/a
21	FOXA2	chr1:172715284-172716069	A549	lung:	n/a	n/a
22	FOXA1	chr1:172714910-172716185	A549	lung:	n/a	n/a
23	FOSL2	chr1:172715380-172716147	MCF-7	breast:	n/a	chr1:172715668-172715677 chr1:172715670-172715677 chr1:172715668-172715678
24	SP1	chr1:172714986-172716200	HCT-116	colon:	n/a	n/a
25	RXRA	chr1:172715290-172716102	SK-N-SH	brain:	n/a	chr1:172715668-172715677
26	GATA3	chr1:172715233-172716306	A549	lung:	n/a	chr1:172715886-172715896 chr1:172715585-172715592 chr1:172715882-172715903 chr1:172715341-172715351 chr1:172715987-172715996
27	JUND	chr1:172715039-172716129	HCT-116	colon:	n/a	chr1:172715668-172715677 chr1:172715670-172715677 chr1:172715667-172715678 chr1:172715668-172715678
28	NR2F2	chr1:172715298-172716271	MCF-7	breast:	n/a	n/a
29	GATA3	chr1:172715039-172716262	SK-N-SH	brain:	n/a	chr1:172715886-172715896 chr1:172715585-172715592 chr1:172715882-172715903 chr1:172715341-172715351 chr1:172715987-172715996
30	JUN	chr1:172715994-172716099	K562	blood:	n/a	n/a
31	FOXM1	chr1:172715391-172716204	MCF-7	breast:	n/a	n/a
32	GATA3	chr1:172715556-172716130	MCF-7	breast:	n/a	chr1:172715886-172715896 chr1:172715585-172715592 chr1:172715882-172715903 chr1:172715987-172715996
33	CEBPB	chr1:172715434-172716100	MCF-7	breast:	n/a	n/a
34	TCF12	chr1:172715121-172716073	SK-N-SH	brain:	n/a	n/a
35	GATA3	chr1:172715443-172716148	MCF-7	breast:	n/a	chr1:172715886-172715896 chr1:172715585-172715592 chr1:172715882-172715903 chr1:172715987-172715996
36	GABPA	chr1:172715381-172716169	MCF-7	breast:	n/a	n/a
37	FOXA1	chr1:172714952-172716129	A549	lung:	n/a	n/a
38	NR2F2	chr1:172715315-172716236	MCF-7	breast:	n/a	n/a
39	CEBPB	chr1:172715400-172716178	MCF-7	breast:	n/a	n/a
40	TEAD4	chr1:172715381-172716138	MCF-7	breast:	n/a	n/a
41	FOSL1	chr1:172714936-172716136	HCT-116	colon:	n/a	chr1:172715668-172715677 chr1:172715670-172715677 chr1:172715668-172715678
42	ZNF217	chr1:172715366-172716084	MCF-7	breast:	n/a	n/a
43	GATA3	chr1:172715513-172716111	T-47D	breast:	n/a	chr1:172715886-172715896 chr1:172715585-172715592 chr1:172715882-172715903 chr1:172715987-172715996
44	TCF12	chr1:172715149-172716273	A549	lung:	n/a	n/a
45	EP300	chr1:172715347-172716208	MCF-7	breast:	n/a	chr1:172715810-172715817 chr1:172715668-172715677
46	JUND	chr1:172715284-172716218	MCF-7	breast:	n/a	chr1:172715668-172715677 chr1:172715670-172715677 chr1:172715667-172715678 chr1:172715668-172715678
47	REST	chr1:172715394-172716085	A549	lung:	n/a	n/a
48	GATA3	chr1:172715263-172716273	MCF-7	breast:	n/a	chr1:172715886-172715896 chr1:172715585-172715592 chr1:172715882-172715903 chr1:172715341-172715351 chr1:172715987-172715996

Variant related genes	Relation type
SLC25A38P1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12119745	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120752	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125542	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12131725	0.92[ASN][1000 genomes]
rs12143438	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12144816	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145987	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4916193	0.92[ASN][1000 genomes]
rs4916194	0.92[EUR][1000 genomes]
rs704843	1.00[ASN][1000 genomes]
rs704844	1.00[ASN][1000 genomes]
rs859669	0.84[ASN][1000 genomes]
rs859670	0.92[ASN][1000 genomes]
rs859672	1.00[ASN][1000 genomes]

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172712000-172716400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:172712000-172716400	Enhancers	HMEC	breast
3	chr1:172712000-172717000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:172712200-172716400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:172713800-172716400	Enhancers	NHLF	lung
6	chr1:172714000-172716400	Enhancers	Adipose Nuclei	Adipose
7	chr1:172714000-172716400	Enhancers	Placenta	Placenta
8	chr1:172714000-172716400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:172714000-172716400	Enhancers	Stomach Mucosa	stomach
10	chr1:172714000-172716400	Enhancers	HSMMtube	muscle
11	chr1:172714000-172716400	Enhancers	K562	blood
12	chr1:172714000-172716400	Enhancers	Osteobl	bone
13	chr1:172714000-172716600	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:172714000-172716600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:172714000-172716600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:172714000-172716600	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:172714000-172716600	Enhancers	HSMM	muscle
18	chr1:172714000-172716800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:172714000-172717000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:172714000-172717000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:172714000-172717800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr1:172714200-172716400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:172714200-172716400	Enhancers	NHDF-Ad	bronchial
24	chr1:172714200-172716600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:172714200-172716600	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr1:172714200-172716800	Enhancers	Primary B cells from cord blood	blood
27	chr1:172714400-172716200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:172714400-172716200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:172714400-172716200	Enhancers	Thymus	Thymus
30	chr1:172714400-172716400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:172714400-172716600	Enhancers	Primary hematopoietic stem cells	blood
32	chr1:172714400-172716600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr1:172714400-172716600	Enhancers	Fetal Thymus	thymus
34	chr1:172714400-172716600	Enhancers	Small Intestine	intestine
35	chr1:172714400-172716600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr1:172714600-172716200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr1:172715000-172716600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr1:172715200-172716200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr1:172715200-172716400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:172715400-172716400	Enhancers	Right Atrium	heart
41	chr1:172715400-172716600	Enhancers	Dnd41	blood
42	chr1:172715600-172716400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:172715600-172716400	Enhancers	NH-A	brain
44	chr1:172715600-172716600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:172715600-172716600	Enhancers	HUVEC	blood vessel
46	chr1:172715800-172716200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr1:172715800-172716200	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr1:172715800-172716400	Enhancers	GM12878-XiMat	blood
49	chr1:172715800-172716800	Enhancers	Primary T cells from cord blood	blood
50	chr1:172715800-172716800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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