Variant report

Variant	rs73936311
Chromosome Location	chr19:56172528-56172529
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:56171986-56172587	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr19:56172027-56172563	A549	lung:	n/a	n/a
3	POLR2A	chr19:56171860-56172570	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr19:56171819-56172943	K562	blood:	n/a	n/a
5	POLR2A	chr19:56171693-56172818	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr19:56172151-56173449	K562	blood:	n/a	n/a
7	POLR2A	chr19:56172371-56172602	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56172514-56172564	HCT-116	colon:	n/a
2	chr19:56172514-56172564	HRCEpiC	kidney:	n/a
3	chr19:56172514-56172564	NH-A	brain:	n/a
4	chr19:56172514-56172564	BJ	skin:	n/a
5	chr19:56172514-56172564	Caco-2	colon:	n/a
6	chr19:56172514-56172564	Hela-S3	cervix:	n/a
7	chr19:56172514-56172564	HMEC	breast:	n/a
8	chr19:56172514-56172564	NHBE	bronchial:	n/a
9	chr19:56172514-56172564	CMK	blood:	n/a
10	chr19:56172514-56172564	SK-N-SH_RA	brain:	n/a
11	chr19:56172514-56172564	AG09309	skin:	n/a
12	chr19:56172514-56172564	HepG2	liver:	n/a
13	chr19:56172514-56172564	AG10803	skin:	n/a
14	chr19:56172514-56172564	GM19239	blood:	n/a
15	chr19:56172514-56172564	T-47D	breast:	n/a
16	chr19:56172514-56172564	HCF	heart:	n/a
17	chr19:56172514-56172564	MCF10A-Er-Src	breast:	n/a
18	chr19:56172514-56172564	HCPEpiC	choroid plexus:	n/a
19	chr19:56172514-56172564	AG04450	lung:	fetal
20	chr19:56172514-56172564	HRE	kidney:	n/a
21	chr19:56172514-56172564	HRPEpiC	eye:	n/a
22	chr19:56172514-56172564	NHDF-neo	bronchial:	n/a
23	chr19:56172514-56172564	AoSMC	blood vessel:	n/a
24	chr19:56172514-56172564	IMR90	lung:	fetal
25	chr19:56172514-56172564	HCM	heart:	n/a
26	chr19:56172514-56172564	U87	brain:	n/a
27	chr19:56172514-56172564	SAEC	small airway:	n/a
28	chr19:56172514-56172564	GM12892	blood:	n/a
29	chr19:56172514-56172564	PANC-1	pancreas:	n/a
30	chr19:56172514-56172564	SKMC	muscle:	n/a
31	chr19:56172514-56172564	HL-60	blood:	n/a
32	chr19:56172514-56172564	HUVEC	blood vessel:	n/a
33	chr19:56172514-56172564	NB4	blood:	n/a
34	chr19:56172514-56172564	AG04449	skin:	fetal
35	chr19:56172514-56172564	Hepatocyte	liver:	n/a
36	chr19:56172514-56172564	ECC-1	luminal epithelium:	n/a
37	chr19:56172514-56172564	LNCaP	prostate:	n/a
38	chr19:56172514-56172564	HIPEpiC	eye:	n/a
39	chr19:56172514-56172564	HAEpiC	amniotic membrane:	n/a
40	chr19:56172514-56172564	K562	blood:	n/a
41	chr19:56172514-56172564	GM12891	blood:	n/a
42	chr19:56172514-56172564	HEEpiC	esophagus:	n/a
43	chr19:56172514-56172564	PFSK-1	brain:	n/a
44	chr19:56172514-56172564	ovcar-3	ovarian:	n/a
45	chr19:56172514-56172564	GM06990	blood:	n/a
46	chr19:56172514-56172564	GM12878	blood:	n/a
47	chr19:56172514-56172564	PrEC	prostate:	n/a
48	chr19:56172514-56172564	SK-N-SH	brain:	n/a
49	chr19:56172514-56172564	Jurkat	blood:	n/a
50	chr19:56172514-56172564	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56152467..56154229-chr19:56171336..56173701,2	MCF-7	breast:
2	chr19:56172318..56174905-chr19:56187838..56190897,3	MCF-7	breast:

No data

Variant related genes	Relation type
U2AF2	TF binding region
U2AF2	CpG island
ENSG00000213015	Chromatin interaction
ENSG00000063245	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56115240	1.00[AMR][1000 genomes]
rs56250101	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56331023	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61736526	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933303	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933306	1.00[AMR][1000 genomes]
rs73933307	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933308	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933310	0.83[AFR][1000 genomes]
rs73934401	1.00[AMR][1000 genomes]
rs73934402	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73936310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73936315	1.00[AMR][1000 genomes]
rs73936316	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
5	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
7	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	nsv1061024	chr19:56167101-56217359	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 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	chr19:56167600-56174200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:56168200-56172800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:56169200-56173200	Weak transcription	Fetal Kidney	kidney
4	chr19:56169200-56173600	Genic enhancers	A549	lung
5	chr19:56169400-56172600	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr19:56169400-56172600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:56169600-56173200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:56169600-56173200	Weak transcription	HSMMtube	muscle
9	chr19:56169600-56181600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr19:56169800-56172600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:56170000-56173200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
12	chr19:56170000-56181600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:56170000-56181600	Strong transcription	Aorta	Aorta
14	chr19:56170000-56181800	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr19:56170000-56184800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:56170200-56172800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
17	chr19:56170200-56173000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr19:56170200-56173200	Weak transcription	NHDF-Ad	bronchial
19	chr19:56170200-56173800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:56170200-56176000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr19:56170200-56178400	Strong transcription	NHEK	skin
22	chr19:56170200-56181600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr19:56170200-56181800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:56170200-56182200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:56170200-56182400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr19:56170200-56182400	Strong transcription	Rectal Smooth Muscle	rectum
27	chr19:56170200-56184000	Strong transcription	Primary T cells from cord blood	blood
28	chr19:56170200-56185200	Strong transcription	Fetal Thymus	thymus
29	chr19:56170200-56185400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr19:56170200-56185800	Strong transcription	Fetal Stomach	stomach
31	chr19:56170400-56177400	Strong transcription	Fetal Intestine Small	intestine
32	chr19:56170400-56179800	Strong transcription	Hela-S3	cervix
33	chr19:56170400-56181600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:56170400-56181600	Strong transcription	Fetal Muscle Leg	muscle
35	chr19:56170400-56182200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:56170400-56183000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr19:56170400-56185600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr19:56170400-56185800	Strong transcription	Fetal Brain Female	brain
39	chr19:56170600-56176200	Strong transcription	HUVEC	blood vessel
40	chr19:56170600-56176800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr19:56170600-56177800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:56170600-56178400	Strong transcription	HepG2	liver
43	chr19:56170600-56178600	Strong transcription	Brain Angular Gyrus	brain
44	chr19:56170600-56178800	Strong transcription	Esophagus	oesophagus
45	chr19:56170600-56181600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr19:56170600-56181600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:56170600-56181600	Strong transcription	Thymus	Thymus
48	chr19:56170600-56182400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr19:56170600-56182400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr19:56170800-56175800	Strong transcription	Fetal Lung	lung

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