Variant report

Variant	rs2478963
Chromosome Location	chr9:93940390-93940391
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	STAT3	chr9:93940102-93940833	MCF10A-Er-Src	breast:	n/a	chr9:93940500-93940511 chr9:93940315-93940323
2	RAD21	chr9:93940198-93940546	SK-N-SH_RA	brain:	n/a	n/a
3	MYC	chr9:93940142-93940727	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA3	chr9:93940101-93940843	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr9:93940130-93940653	SK-N-SH_RA	brain:	n/a	n/a
6	YY1	chr9:93940263-93940545	SK-N-SH_RA	brain:	n/a	n/a
7	FOS	chr9:93940102-93940723	MCF10A-Er-Src	breast:	n/a	n/a
8	RUNX3	chr9:93940052-93940460	GM12878	blood:	n/a	n/a
9	STAT3	chr9:93939937-93940731	MCF10A-Er-Src	breast:	n/a	chr9:93940500-93940511 chr9:93940315-93940323 chr9:93940034-93940042
10	POLR2A	chr9:93939632-93941041	MCF10A-Er-Src	breast:	n/a	n/a
11	RUNX3	chr9:93940059-93940434	GM12878	blood:	n/a	n/a
12	STAT3	chr9:93939981-93940818	MCF10A-Er-Src	breast:	n/a	chr9:93940500-93940511 chr9:93940315-93940323 chr9:93940034-93940042
13	POLR2A	chr9:93939911-93940821	MCF10A-Er-Src	breast:	n/a	n/a
14	MYC	chr9:93939980-93940785	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr9:93940190-93940684	SK-N-SH_RA	brain:	n/a	n/a
16	EP300	chr9:93940168-93940626	SK-N-SH_RA	brain:	n/a	n/a
17	GATA3	chr9:93940017-93940850	SK-N-SH	brain:	n/a	n/a
18	TCF12	chr9:93940130-93940819	SK-N-SH	brain:	n/a	n/a
19	FOS	chr9:93940147-93940736	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr9:93940128-93940743	MCF10A-Er-Src	breast:	n/a	n/a
21	NFIC	chr9:93940145-93940855	SK-N-SH	brain:	n/a	n/a
22	STAT3	chr9:93939985-93940841	MCF10A-Er-Src	breast:	n/a	chr9:93940500-93940511 chr9:93940315-93940323 chr9:93940034-93940042

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93939078..93941817-chr9:93947414..93952988,4	K562	blood:
2	chr9:93938945..93942205-chr9:93953498..93957392,4	K562	blood:

Variant related genes	Relation type
ENSG00000229694	TF binding region

rs_ID	r²[population]
rs1082054	0.87[AMR][1000 genomes]
rs1397574	0.82[AMR][1000 genomes]
rs1705269	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs773506	0.88[AMR][1000 genomes]
rs773509	0.88[AMR][1000 genomes]
rs773513	0.86[AMR][1000 genomes]
rs773515	0.87[AMR][1000 genomes]
rs9299391	0.82[AMR][1000 genomes]

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93927600-93942200	Weak transcription	Right Ventricle	heart
2	chr9:93932200-93944000	Weak transcription	K562	blood
3	chr9:93936400-93941000	Enhancers	Primary B cells from peripheral blood	blood
4	chr9:93937200-93941400	Enhancers	Thymus	Thymus
5	chr9:93937400-93942400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:93937800-93940600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr9:93938200-93941400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr9:93938400-93941400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:93938600-93941000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr9:93938600-93941000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:93938600-93941600	Enhancers	Fetal Thymus	thymus
12	chr9:93939400-93940800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr9:93939400-93941200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr9:93939400-93942400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:93939400-93942600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:93939400-93942600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:93939400-93942600	Enhancers	Esophagus	oesophagus
18	chr9:93939400-93942800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:93939400-93943400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:93939600-93940400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr9:93939600-93940600	Enhancers	Primary T cells from cord blood	blood
22	chr9:93939600-93940600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr9:93939600-93940600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr9:93939600-93940600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr9:93939600-93940600	Flanking Active TSS	NHEK	skin
26	chr9:93939600-93940800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr9:93939600-93940800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr9:93939600-93940800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:93939600-93941000	Enhancers	Primary hematopoietic stem cells	blood
30	chr9:93939800-93940400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr9:93939800-93940400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:93939800-93940600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr9:93939800-93940600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr9:93939800-93940600	Enhancers	Osteobl	bone
35	chr9:93939800-93940800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr9:93939800-93940800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:93939800-93940800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr9:93939800-93940800	Enhancers	Stomach Mucosa	stomach
39	chr9:93939800-93940800	Enhancers	Dnd41	blood
40	chr9:93939800-93941000	Enhancers	Fetal Muscle Trunk	muscle
41	chr9:93939800-93941000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr9:93939800-93941000	Enhancers	NHLF	lung
43	chr9:93939800-93942200	Enhancers	HSMM	muscle
44	chr9:93939800-93943200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr9:93940000-93940400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:93940000-93940400	Enhancers	Spleen	Spleen
47	chr9:93940000-93940400	Flanking Active TSS	HMEC	breast
48	chr9:93940000-93940600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr9:93940000-93940600	Enhancers	Colonic Mucosa	Colon
50	chr9:93940000-93940600	Enhancers	Duodenum Mucosa	Duodenum

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