Variant report

Variant	rs73872713
Chromosome Location	chr3:141120591-141120592
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	CTCF	chr3:141120460-141120610	SK-N-SH_RA	brain:	n/a	n/a
2	POLR2A	chr3:141119240-141123671	GM18505	blood:	n/a	n/a
3	CTCF	chr3:141120480-141120630	HMEC	breast:	n/a	n/a
4	CHD1	chr3:141119815-141123440	IMR90	lung:	n/a	n/a
5	CTCF	chr3:141120520-141120670	AG04449	skin:	n/a	n/a
6	RAD21	chr3:141120472-141120758	SK-N-SH_RA	brain:	n/a	chr3:141120566-141120580
7	POLR2A	chr3:141120500-141121873	ECC-1	luminal epithelium:	n/a	n/a
8	MTA3	chr3:141120446-141121141	GM12878	blood:	n/a	n/a
9	MAX	chr3:141120491-141122053	GM12878	blood:	n/a	chr3:141121609-141121619
10	PML	chr3:141120532-141122287	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:141119128-141123751	GM12878	blood:	n/a	n/a
12	CTCF	chr3:141120480-141120630	HCPEpiC	choroid plexus:	n/a	n/a
13	POLR2A	chr3:141120570-141121923	HEK293	kidney:	n/a	n/a
14	MAX	chr3:141120419-141121909	MCF-7	breast:	n/a	chr3:141121609-141121619
15	YY1	chr3:141120479-141120734	HCT-116	colon:	n/a	n/a
16	ZNF384	chr3:141120053-141120934	GM12878	blood:	n/a	n/a
17	MYC	chr3:141119812-141120858	MCF10A-Er-Src	breast:	n/a	n/a
18	MXI1	chr3:141119086-141122254	SK-N-SH	brain:	n/a	n/a
19	MAX	chr3:141120344-141121944	A549	lung:	n/a	chr3:141121609-141121619
20	POLR2A	chr3:141119831-141123743	GM12891	blood:	n/a	n/a
21	POLR2A	chr3:141119154-141121990	HepG2	liver:	n/a	n/a
22	POLR2A	chr3:141120475-141121923	PANC-1	pancreas:	n/a	n/a
23	WRNIP1	chr3:141120571-141120938	GM12878	blood:	n/a	n/a
24	MAZ	chr3:141120548-141122137	IMR90	lung:	n/a	chr3:141121609-141121619
25	MAX	chr3:141120353-141120858	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr3:141120588-141121115	U87	brain:	n/a	n/a
27	POLR2A	chr3:141120485-141120770	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr3:141120507-141121971	GM19193	blood:	n/a	n/a
29	YY1	chr3:141120434-141121940	SK-N-SH	brain:	n/a	chr3:141121640-141121651 chr3:141121034-141121043 chr3:141121363-141121377 chr3:141121185-141121195 chr3:141120952-141120966
30	POLR2A	chr3:141119629-141123667	IMR90	lung:	n/a	n/a
31	MAX	chr3:141120302-141122121	A549	lung:	n/a	chr3:141121609-141121619
32	TAF1	chr3:141120472-141121765	ECC-1	luminal epithelium:	n/a	n/a
33	MAX	chr3:141120503-141121833	Hela-S3	cervix:	n/a	chr3:141121609-141121619
34	MAX	chr3:141120528-141120600	NB4	blood:	n/a	n/a
35	CTCF	chr3:141120460-141120610	GM06990	blood:	n/a	n/a
36	CTCF	chr3:141120580-141120730	BE2_C	brain:	n/a	n/a
37	POLR2A	chr3:141120563-141122078	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr3:141120510-141122778	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr3:141120143-141120795	MCF10A-Er-Src	breast:	n/a	n/a
40	MYC	chr3:141119922-141120678	MCF10A-Er-Src	breast:	n/a	n/a
41	CTCF	chr3:141120548-141120625	Kidney_OC	kidney:	n/a	n/a
42	POLR2A	chr3:141120542-141124493	GM12878	blood:	n/a	n/a
43	CTCF	chr3:141120520-141120670	Caco-2	colon:	n/a	n/a
44	ESRRA	chr3:141118475-141123908	GM12878	blood:	n/a	chr3:141121102-141121116 chr3:141120959-141120972 chr3:141121101-141121117
45	MXI1	chr3:141120525-141121852	GM12878	blood:	n/a	n/a
46	E2F6	chr3:141120345-141121123	A549	lung:	n/a	chr3:141121032-141121042
47	POLR2A	chr3:141120494-141122233	GM12892	blood:	n/a	n/a
48	TCF12	chr3:141120325-141121127	A549	lung:	n/a	chr3:141120395-141120403
49	YY1	chr3:141120559-141121637	GM12878	blood:	n/a	chr3:141121034-141121043 chr3:141121363-141121377 chr3:141121185-141121195 chr3:141120952-141120966
50	MYC	chr3:141120489-141120593	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:141103343..141105459-chr3:141119625..141122357,2	MCF-7	breast:
2	chr3:141091574..141093729-chr3:141119134..141120872,2	MCF-7	breast:
3	chr3:141085384..141087888-chr3:141119776..141122327,3	MCF-7	breast:
4	chr3:141110266..141112261-chr3:141118799..141120629,2	K562	blood:
5	chr3:141106008..141109150-chr3:141119369..141122507,3	MCF-7	breast:
6	chr3:141084785..141090037-chr3:141119214..141123075,16	MCF-7	breast:
7	chr3:141120069..141122089-chr3:141143062..141145117,2	MCF-7	breast:
8	chr3:141110266..141112911-chr3:141118799..141121045,2	K562	blood:

Variant related genes	Relation type
ZBTB38	TF binding region
ENSG00000177311	Chromatin interaction
ENSG00000249417	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56694596	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61332214	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6764191	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6792546	0.90[AMR][1000 genomes]
rs6801329	0.90[AMR][1000 genomes]
rs73872712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9845854	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3397896	chr3:141120287-141122835	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141111600-141120800	Weak transcription	Gastric	stomach
2	chr3:141112600-141120600	Weak transcription	Lung	lung
3	chr3:141112800-141120600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:141112800-141120600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:141112800-141120800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:141116000-141120600	Weak transcription	Right Ventricle	heart
7	chr3:141116200-141120600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:141116200-141120600	Weak transcription	Fetal Kidney	kidney
9	chr3:141116400-141120600	Weak transcription	Fetal Brain Female	brain
10	chr3:141116400-141120600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:141116400-141120800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:141116800-141120600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:141116800-141120600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:141116800-141120800	Weak transcription	Fetal Lung	lung
15	chr3:141116800-141121600	Weak transcription	Fetal Brain Male	brain
16	chr3:141116800-141122600	Weak transcription	K562	blood
17	chr3:141117000-141120600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:141117200-141120600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:141117200-141120800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:141117400-141120600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:141117400-141120600	Enhancers	Fetal Intestine Small	intestine
22	chr3:141117800-141120600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr3:141117800-141120600	Enhancers	NHDF-Ad	bronchial
24	chr3:141117800-141120600	Enhancers	NHLF	lung
25	chr3:141118000-141120600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:141118000-141120600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:141118200-141120600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:141118200-141120600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr3:141118200-141120600	Enhancers	Adipose Nuclei	Adipose
30	chr3:141118400-141120600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr3:141118600-141120600	Enhancers	Fetal Intestine Large	intestine
32	chr3:141118600-141120800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:141118800-141120600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:141118800-141120600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr3:141118800-141120600	Weak transcription	Aorta	Aorta
36	chr3:141118800-141120600	Enhancers	Brain Hippocampus Middle	brain
37	chr3:141118800-141120600	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr3:141119000-141120600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr3:141119000-141120600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr3:141119000-141120600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr3:141119000-141120600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr3:141119000-141120600	Enhancers	Fetal Heart	heart
43	chr3:141119000-141120600	Enhancers	Stomach Mucosa	stomach
44	chr3:141119000-141120800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr3:141119200-141120600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr3:141119200-141120600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr3:141119200-141120600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:141119200-141120600	Enhancers	Brain Substantia Nigra	brain
49	chr3:141119200-141120600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr3:141119200-141120600	Enhancers	Skeletal Muscle Female	skeletal muscle

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