Variant report

Variant	rs73218049
Chromosome Location	chr3:111851226-111851227
allele	A/G
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	NFATC1	chr3:111846287-111853296	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:111850784-111853964	GM12891	blood:	n/a	n/a
3	RUNX3	chr3:111850883-111854136	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:111846191-111854054	GM12892	blood:	n/a	n/a
5	ELK1	chr3:111850966-111851540	GM12878	blood:	n/a	n/a
6	WRNIP1	chr3:111850971-111852299	GM12878	blood:	n/a	n/a
7	EBF1	chr3:111851012-111856368	GM12878	blood:	n/a	chr3:111852245-111852256
8	MAZ	chr3:111850037-111852643	GM12878	blood:	n/a	chr3:111852319-111852327 chr3:111852129-111852139
9	RUNX3	chr3:111850936-111853979	GM12878	blood:	n/a	n/a
10	EP300	chr3:111851070-111854042	GM12878	blood:	n/a	chr3:111851867-111851881 chr3:111851873-111851887 chr3:111852008-111852017
11	PML	chr3:111850554-111854266	GM12878	blood:	n/a	chr3:111852106-111852114
12	STAT5A	chr3:111850377-111854015	GM12878	blood:	n/a	chr3:111851865-111851876 chr3:111851072-111851092 chr3:111851295-111851306
13	POLR2A	chr3:111851008-111852379	GM19193	blood:	n/a	n/a
14	POLR2A	chr3:111850789-111854058	GM12892	blood:	n/a	n/a
15	POLR2A	chr3:111850717-111854239	GM12892	blood:	n/a	n/a
16	TBP	chr3:111848676-111853001	GM12878	blood:	n/a	n/a
17	BCLAF1	chr3:111850867-111854010	GM12878	blood:	n/a	chr3:111851873-111851882 chr3:111852251-111852260 chr3:111851984-111851993 chr3:111852131-111852144
18	CEBPB	chr3:111850869-111852835	GM12878	blood:	n/a	n/a
19	FOXM1	chr3:111850668-111852993	GM12878	blood:	n/a	n/a
20	RCOR1	chr3:111850970-111852701	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:111850956-111853341	GM19099	blood:	n/a	n/a
22	TBL1XR1	chr3:111850671-111854123	GM12878	blood:	n/a	n/a
23	POLR2A	chr3:111850835-111853668	GM12878	blood:	n/a	n/a
24	POLR2A	chr3:111846299-111854337	Raji	blood:	n/a	n/a
25	POLR2A	chr3:111850943-111851282	GM12878	blood:	n/a	n/a
26	NFATC1	chr3:111846108-111854042	GM12878	blood:	n/a	n/a
27	ATF2	chr3:111850797-111852839	GM12878	blood:	n/a	n/a
28	NFIC	chr3:111849961-111852875	GM12878	blood:	n/a	n/a
29	RELA	chr3:111850997-111852870	GM12891	blood:	n/a	n/a
30	NFIC	chr3:111845900-111853068	GM12878	blood:	n/a	n/a
31	CHD2	chr3:111850980-111854030	GM12878	blood:	n/a	n/a
32	POLR2A	chr3:111850847-111853999	GM12878	blood:	n/a	n/a
33	POLR2A	chr3:111846063-111856284	GM12878	blood:	n/a	n/a
34	RELA	chr3:111850963-111852972	GM15510	blood:	n/a	n/a
35	POLR2A	chr3:111850803-111853468	GM12891	blood:	n/a	n/a
36	FOXM1	chr3:111850792-111853336	GM12878	blood:	n/a	n/a
37	USF2	chr3:111851086-111853141	GM12878	blood:	n/a	n/a
38	POLR2A	chr3:111850773-111856379	GM12878	blood:	n/a	n/a
39	POLR2A	chr3:111850744-111852363	GM12891	blood:	n/a	n/a
40	POLR2A	chr3:111846207-111853952	GM12892	blood:	n/a	n/a
41	BCLAF1	chr3:111850777-111854285	GM12878	blood:	n/a	chr3:111851873-111851882 chr3:111852251-111852260 chr3:111851984-111851993 chr3:111852131-111852144
42	POLR2A	chr3:111850910-111851309	GM12878	blood:	n/a	n/a
43	POLR2A	chr3:111846124-111855250	GM12878	blood:	n/a	n/a
44	CUX1	chr3:111848565-111852995	GM12878	blood:	n/a	n/a
45	PML	chr3:111850935-111852959	GM12878	blood:	n/a	chr3:111852106-111852114
46	POLR2A	chr3:111843489-111856486	GM12878	blood:	n/a	n/a
47	POU2F2	chr3:111850889-111853496	GM12878	blood:	n/a	n/a
48	POLR2A	chr3:111847163-111853431	GM15510	blood:	n/a	n/a
49	MTA3	chr3:111845901-111857252	GM12878	blood:	n/a	n/a
50	MAX	chr3:111850962-111853387	GM12878	blood:	n/a	chr3:111852319-111852327 chr3:111852129-111852139

Variant related genes	Relation type
ENSG00000261488	TF binding region

rs_ID	r²[population]
rs340146	1.00[ASN][1000 genomes]
rs340151	0.88[EUR][1000 genomes]
rs60333691	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73218018	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73219938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111810400-111852000	Weak transcription	Esophagus	oesophagus
2	chr3:111812200-111853000	Weak transcription	Right Ventricle	heart
3	chr3:111830600-111853200	Weak transcription	Lung	lung
4	chr3:111834200-111853800	Weak transcription	Fetal Intestine Small	intestine
5	chr3:111839000-111853000	Weak transcription	Left Ventricle	heart
6	chr3:111840800-111855800	Weak transcription	NH-A	brain
7	chr3:111844800-111855800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:111845600-111852800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr3:111845600-111855800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:111845800-111851800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:111845800-111853200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:111846800-111851600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:111846800-111853000	Weak transcription	Adipose Nuclei	Adipose
14	chr3:111847000-111851800	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:111847000-111853200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:111848000-111853200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:111848200-111857000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:111848400-111853800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:111848400-111854600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr3:111848400-111854800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:111848400-111855800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:111848400-111856000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:111848400-111856800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:111848600-111851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:111848800-111851400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr3:111848800-111851600	Weak transcription	HMEC	breast
27	chr3:111848800-111851800	Weak transcription	Placenta	Placenta
28	chr3:111848800-111853600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:111848800-111854200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:111849000-111854800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:111849200-111853000	Weak transcription	Hela-S3	cervix
32	chr3:111849200-111855000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:111849400-111851400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:111849400-111851400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr3:111849800-111851400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:111849800-111851600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr3:111849800-111851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:111849800-111852400	Active TSS	GM12878-XiMat	blood
39	chr3:111849800-111852600	Weak transcription	Gastric	stomach
40	chr3:111849800-111852800	Weak transcription	Pancreas	Pancrea
41	chr3:111849800-111853000	Weak transcription	Small Intestine	intestine
42	chr3:111849800-111853200	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr3:111849800-111853200	Weak transcription	Fetal Heart	heart
44	chr3:111850200-111851800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr3:111850200-111852600	Weak transcription	Aorta	Aorta
46	chr3:111850400-111851600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:111850400-111851800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:111850800-111852400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr3:111851000-111851400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr3:111851000-111851600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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