Variant report

Variant	rs73924828
Chromosome Location	chr19:19753794-19753795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr19:19753786-19755042	ECC-1	luminal epithelium:	n/a	chr19:19754561-19754569 chr19:19754824-19754833 chr19:19754909-19754916
2	WRNIP1	chr19:19753551-19754004	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:19753278-19754851	GM12891	blood:	n/a	n/a
4	POLR2A	chr19:19753077-19755139	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:19753079-19755081	GM12892	blood:	n/a	n/a
6	POLR2A	chr19:19753250-19755040	GM18951	blood:	n/a	n/a
7	MYC	chr19:19753633-19754974	K562	blood:	n/a	chr19:19754681-19754691
8	POLR2A	chr19:19753227-19755267	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:19753481-19754833	GM10847	blood:	n/a	n/a
10	SPI1	chr19:19753416-19754704	HL-60	blood:	n/a	chr19:19754072-19754085 chr19:19754677-19754690 chr19:19753461-19753474 chr19:19754071-19754084 chr19:19753431-19753444 chr19:19754073-19754082 chr19:19754126-19754139
11	POLR2A	chr19:19753342-19755089	GM19193	blood:	n/a	n/a
12	UBTF	chr19:19753712-19753866	K562	blood:	n/a	n/a
13	SIN3AK20	chr19:19753789-19754334	H1-hESC	embryonic stem cell:	n/a	n/a
14	SMC3	chr19:19753338-19754083	GM12878	blood:	n/a	n/a
15	MAX	chr19:19753569-19754929	NB4	blood:	n/a	chr19:19754681-19754691
16	MXI1	chr19:19753469-19755349	IMR90	lung:	n/a	chr19:19754710-19754719
17	POLR2A	chr19:19753159-19754994	GM12891	blood:	n/a	n/a
18	POLR2A	chr19:19753278-19755063	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:19753228-19754960	GM12892	blood:	n/a	n/a
20	POLR2A	chr19:19752168-19755059	GM12878	blood:	n/a	n/a
21	SIN3A	chr19:19753576-19754956	H1-hESC	embryonic stem cell:	n/a	chr19:19753618-19753626
22	EBF1	chr19:19753257-19753913	GM12878	blood:	n/a	chr19:19753426-19753437
23	MTA3	chr19:19753539-19754186	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:19753736-19755054	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr19:19753320-19755052	GM12878	blood:	n/a	n/a
26	RUNX3	chr19:19753184-19755046	GM12878	blood:	n/a	n/a
27	POLR2A	chr19:19753040-19755067	GM12892	blood:	n/a	n/a
28	POLR2A	chr19:19753156-19755303	GM12891	blood:	n/a	n/a
29	POLR2A	chr19:19753699-19754813	MCF-7	breast:	n/a	n/a
30	MAX	chr19:19753594-19754992	K562	blood:	n/a	chr19:19754681-19754691
31	MYC	chr19:19753381-19754899	NB4	blood:	n/a	chr19:19754681-19754691
32	POLR2A	chr19:19753329-19755015	GM19099	blood:	n/a	n/a
33	POLR2A	chr19:19753537-19754992	H1-neurons	neurons:	n/a	n/a
34	NFIC	chr19:19753219-19754381	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:19753707-19753900	HUVEC	blood vessel:	n/a	n/a
36	SIN3A	chr19:19753390-19754397	GM12878	blood:	n/a	chr19:19753618-19753626
37	POLR2A	chr19:19753242-19754992	GM12878	blood:	n/a	n/a
38	HCFC1	chr19:19753549-19755129	Hela-S3	cervix:	n/a	n/a
39	RELA	chr19:19753565-19754282	GM18951	blood:	n/a	n/a
40	STAT5A	chr19:19753333-19755102	GM12878	blood:	n/a	chr19:19754125-19754137 chr19:19753759-19753766 chr19:19755085-19755092 chr19:19753432-19753444 chr19:19754127-19754139
41	GTF2F1	chr19:19753753-19753959	K562	blood:	n/a	n/a
42	HEY1	chr19:19753610-19753926	K562	blood:	n/a	n/a
43	POU2F2	chr19:19753728-19755019	GM12878	blood:	n/a	n/a
44	PML	chr19:19753179-19755120	GM12878	blood:	n/a	chr19:19753635-19753643
45	MXI1	chr19:19753212-19755007	GM12878	blood:	n/a	chr19:19754710-19754719
46	YY1	chr19:19753315-19753795	GM12878	blood:	n/a	n/a
47	SMC3	chr19:19753504-19755369	SK-N-SH	brain:	n/a	chr19:19754825-19754839 chr19:19754825-19754835
48	RUNX3	chr19:19753205-19755079	GM12878	blood:	n/a	n/a
49	POLR2A	chr19:19753248-19755082	GM18505	blood:	n/a	n/a
50	MAX	chr19:19753340-19754865	GM12878	blood:	n/a	chr19:19754681-19754691

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:19753746-19753796	CMK	blood:	n/a
2	chr19:19753746-19753796	HEEpiC	esophagus:	n/a
3	chr19:19753746-19753796	HMEC	breast:	n/a
4	chr19:19753746-19753796	AG10803	skin:	n/a
5	chr19:19753746-19753796	Hela-S3	cervix:	n/a
6	chr19:19753746-19753796	GM12892	blood:	n/a
7	chr19:19753746-19753796	HRPEpiC	eye:	n/a
8	chr19:19753746-19753796	Caco-2	colon:	n/a
9	chr19:19753746-19753796	HNPCEpiC	eye:	n/a
10	chr19:19753746-19753796	SAEC	small airway:	n/a
11	chr19:19753746-19753796	IMR90	lung:	fetal
12	chr19:19753746-19753796	HCPEpiC	choroid plexus:	n/a
13	chr19:19753746-19753796	HRCEpiC	kidney:	n/a
14	chr19:19753746-19753796	H1-hESC	embryonic stem cell:	embryo
15	chr19:19753746-19753796	PFSK-1	brain:	n/a
16	chr19:19753746-19753796	SK-N-SH_RA	brain:	n/a
17	chr19:19753746-19753796	LNCaP	prostate:	n/a
18	chr19:19753746-19753796	MCF10A-Er-Src	breast:	n/a
19	chr19:19753746-19753796	RPTEC	kidney:	n/a
20	chr19:19753746-19753796	HepG2	liver:	n/a
21	chr19:19753746-19753796	Hepatocyte	liver:	n/a
22	chr19:19753746-19753796	NB4	blood:	n/a
23	chr19:19753746-19753796	HEK293	kidney:	embryo
24	chr19:19753746-19753796	U87	brain:	n/a
25	chr19:19753746-19753796	ovcar-3	ovarian:	n/a
26	chr19:19753746-19753796	Jurkat	blood:	n/a
27	chr19:19753746-19753796	SK-N-SH	brain:	n/a
28	chr19:19753746-19753796	BJ	skin:	n/a
29	chr19:19753746-19753796	HRE	kidney:	n/a
30	chr19:19753746-19753796	NHBE	bronchial:	n/a
31	chr19:19753746-19753796	NT2-D1	testis:	n/a
32	chr19:19753746-19753796	GM12891	blood:	n/a
33	chr19:19753746-19753796	ProgFib	skin:	n/a
34	chr19:19753746-19753796	PrEC	prostate:	n/a
35	chr19:19753746-19753796	BE2_C	brain:	n/a
36	chr19:19753746-19753796	HAEpiC	amniotic membrane:	n/a
37	chr19:19753746-19753796	SKMC	muscle:	n/a
38	chr19:19753746-19753796	K562	blood:	n/a
39	chr19:19753746-19753796	GM19239	blood:	n/a
40	chr19:19753746-19753796	MCF-7	breast:	n/a
41	chr19:19753746-19753796	PANC-1	pancreas:	n/a
42	chr19:19753746-19753796	NH-A	brain:	n/a
43	chr19:19753746-19753796	NHDF-neo	bronchial:	n/a
44	chr19:19753746-19753796	HIPEpiC	eye:	n/a
45	chr19:19753746-19753796	ECC-1	luminal epithelium:	n/a
46	chr19:19753746-19753796	AG04449	skin:	fetal
47	chr19:19753746-19753796	HCF	heart:	n/a
48	chr19:19753746-19753796	AG09319	gingival:	n/a
49	chr19:19753746-19753796	HCM	heart:	n/a
50	chr19:19753746-19753796	AG04450	lung:	fetal

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19751893..19756920-chr19:19758472..19762276,9	K562	blood:
2	chr19:19736821..19742043-chr19:19751528..19755876,8	MCF-7	breast:
3	chr19:19649879..19653588-chr19:19753029..19755939,4	K562	blood:
4	chr19:19751259..19758144-chr19:19770384..19776332,14	K562	blood:
5	chr19:19753162..19754752-chr19:19769276..19770855,2	MCF-7	breast:
6	chr19:19752450..19756333-chr19:19763709..19769200,7	K562	blood:
7	chr19:19729600..19731507-chr19:19752222..19754293,3	K562	blood:
8	chr19:19753534..19755355-chr19:19771479..19774786,3	MCF-7	breast:
9	chr19:19664938..19665562-chr19:19753334..19754218,2	MCF-7	breast:
10	chr19:19751259..19757786-chr19:19771999..19776232,8	K562	blood:
11	chr19:19752883..19756107-chr19:19759212..19764518,8	MCF-7	breast:
12	chr19:19625550..19627956-chr19:19752305..19756076,5	MCF-7	breast:
13	chr19:19752144..19756505-chr19:19773208..19775858,7	MCF-7	breast:
14	chr19:19637478..19643205-chr19:19752988..19755970,5	MCF-7	breast:
15	chr19:19647280..19649688-chr19:19752870..19754432,2	MCF-7	breast:
16	chr19:19650697..19653588-chr19:19753029..19754860,3	K562	blood:

No data

Variant related genes	Relation type
GMIP	TF binding region
GMIP	CpG island
ENSG00000258674	Chromatin interaction
ENSG00000105717	Chromatin interaction
ENSG00000105726	Chromatin interaction
ENSG00000250067	Chromatin interaction
ENSG00000064547	Chromatin interaction
ENSG00000178093	Chromatin interaction
ENSG00000160161	Chromatin interaction
ENSG00000186010	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10411387	1.00[AMR][1000 genomes]
rs10426732	1.00[AMR][1000 genomes]
rs28539064	1.00[AMR][1000 genomes]
rs60327356	1.00[AMR][1000 genomes]
rs7258488	1.00[AMR][1000 genomes]
rs73922902	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv911309	chr19:19727042-19784891	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19746600-19753800	Weak transcription	Aorta	Aorta
2	chr19:19746600-19753800	Weak transcription	Ovary	ovary
3	chr19:19752600-19754400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr19:19753000-19753800	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr19:19753000-19754000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr19:19753000-19754200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr19:19753000-19754400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:19753200-19753800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:19753200-19753800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:19753200-19753800	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr19:19753200-19753800	Flanking Active TSS	Fetal Thymus	thymus
12	chr19:19753200-19753800	Flanking Active TSS	Hela-S3	cervix
13	chr19:19753200-19754000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:19753200-19754000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:19753200-19754000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:19753200-19754000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:19753200-19754000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:19753200-19754000	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr19:19753200-19754000	Flanking Active TSS	Dnd41	blood
20	chr19:19753200-19754200	Flanking Active TSS	Colonic Mucosa	Colon
21	chr19:19753200-19754400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr19:19753200-19754600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr19:19753200-19754600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:19753200-19754600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr19:19753200-19754600	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr19:19753200-19754600	Active TSS	NHEK	skin
27	chr19:19753200-19754800	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr19:19753200-19754800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:19753200-19754800	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr19:19753200-19754800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:19753200-19754800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:19753200-19754800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr19:19753200-19754800	Active TSS	Esophagus	oesophagus
34	chr19:19753200-19754800	Active TSS	Rectal Smooth Muscle	rectum
35	chr19:19753200-19755000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr19:19753400-19753800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:19753400-19753800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:19753400-19753800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr19:19753400-19753800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:19753400-19753800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:19753400-19753800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:19753400-19753800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:19753400-19753800	Active TSS	Brain Anterior Caudate	brain
44	chr19:19753400-19753800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr19:19753400-19753800	Flanking Active TSS	Fetal Lung	lung
46	chr19:19753400-19753800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr19:19753400-19753800	Flanking Active TSS	Stomach Mucosa	stomach
48	chr19:19753400-19753800	Flanking Active TSS	HepG2	liver
49	chr19:19753400-19753800	Flanking Active TSS	NH-A	brain
50	chr19:19753400-19754000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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