Variant report

Variant	rs73927972
Chromosome Location	chr19:35752488-35752489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:35752231-35753813	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr19:35751416-35753773	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr19:35751992-35753868	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:35751612-35760840	K562	blood:	n/a	n/a
5	POLR2A	chr19:35752437-35753883	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr19:35752466-35753059	U87	brain:	n/a	n/a
7	POLR2A	chr19:35751524-35759415	MCF-7	breast:	n/a	n/a
8	POLR2A	chr19:35752369-35753946	HEK293	kidney:	n/a	n/a
9	POLR2A	chr19:35751840-35753818	ECC-1	luminal epithelium:	n/a	n/a
10	CEBPB	chr19:35752480-35752655	K562	blood:	n/a	chr19:35752623-35752634 chr19:35752622-35752635 chr19:35752622-35752633
11	POLR2A	chr19:35752444-35752926	HepG2	liver:	n/a	n/a
12	POLR2A	chr19:35752220-35753759	A549	lung:	n/a	n/a
13	POLR2A	chr19:35752284-35752524	A549	lung:	n/a	n/a
14	POLR2A	chr19:35752316-35753688	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr19:35751581-35753714	A549	lung:	n/a	n/a
16	POLR2A	chr19:35752306-35753732	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:35751638-35753929	HepG2	liver:	n/a	n/a
18	POLR2A	chr19:35751616-35753771	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:35751530-35754083	Hela-S3	cervix:	n/a	n/a
20	PBX3	chr19:35751739-35753829	A549	lung:	n/a	n/a
21	POLR2A	chr19:35752283-35752682	ProgFib	skin:	n/a	n/a
22	POLR2A	chr19:35752075-35759311	HepG2	liver:	n/a	n/a
23	POLR2A	chr19:35751722-35753917	K562	blood:	n/a	n/a
24	POLR2A	chr19:35752295-35752806	K562	blood:	n/a	n/a
25	POLR2A	chr19:35751472-35759661	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr19:35751566-35753945	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr19:35752409-35753692	GM19193	blood:	n/a	n/a
28	BCL3	chr19:35751811-35753987	A549	lung:	n/a	n/a
29	POLR2A	chr19:35751461-35753851	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:35752263-35753823	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr19:35752222-35753820	K562	blood:	n/a	n/a
32	POLR2A	chr19:35752414-35752899	K562	blood:	n/a	n/a
33	POLR2A	chr19:35751582-35753781	GM18505	blood:	n/a	n/a
34	POLR2A	chr19:35752317-35752588	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr19:35752294-35752584	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr19:35751706-35753919	K562	blood:	n/a	n/a
37	POLR2A	chr19:35752243-35752536	A549	lung:	n/a	n/a
38	POLR2A	chr19:35752191-35753645	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr19:35752288-35752497	A549	lung:	n/a	n/a
40	POLR2A	chr19:35752299-35752800	GM12878	blood:	n/a	n/a
41	POLR2A	chr19:35752333-35753759	MCF-7	breast:	n/a	n/a
42	POLR2A	chr19:35752277-35753762	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr19:35751621-35753950	MCF10A-Er-Src	breast:	n/a	n/a
44	ZNF263	chr19:35752167-35753611	HEK293-T-REx	kidney:	n/a	chr19:35752965-35752986
45	POLR2A	chr19:35752347-35752856	GM12878	blood:	n/a	n/a
46	POLR2A	chr19:35751626-35754519	PBDE	blood:	n/a	n/a
47	POLR2A	chr19:35751617-35754000	GM12891	blood:	n/a	n/a
48	POLR2A	chr19:35752413-35752792	HCT-116	colon:	n/a	n/a
49	POLR2A	chr19:35751495-35759378	K562	blood:	n/a	n/a
50	POLR2A	chr19:35752300-35753765	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35657563..35659340-chr19:35750773..35753172,2	K562	blood:
2	chr19:35752101..35756218-chr19:36205472..36209304,3	MCF-7	breast:
3	chr19:35644270..35647096-chr19:35751506..35754476,2	K562	blood:
4	chr19:35632127..35634031-chr19:35752023..35753899,2	MCF-7	breast:

No data

Variant related genes	Relation type
LSR	TF binding region
ENSG00000268947	TF binding region
ENSG00000153902	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000089327	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55865369	0.84[AFR][1000 genomes]
rs59981335	1.00[AFR][1000 genomes]
rs73927975	0.84[AFR][1000 genomes]
rs73927976	0.82[AFR][1000 genomes]
rs73927977	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	esv1836312	chr19:35741456-35786868	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
9	nsv911619	chr19:35749563-35775441	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35741200-35758000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:35741400-35757800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:35742000-35756200	Strong transcription	NHEK	skin
4	chr19:35742600-35755200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:35743800-35756600	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr19:35744400-35757600	Strong transcription	Fetal Intestine Large	intestine
7	chr19:35744600-35752600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:35744800-35757600	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr19:35744800-35757600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:35744800-35757800	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr19:35744800-35758000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr19:35745000-35757800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr19:35746200-35755200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:35746600-35755000	Weak transcription	GM12878-XiMat	blood
15	chr19:35746600-35757600	Strong transcription	Fetal Intestine Small	intestine
16	chr19:35746600-35757600	Weak transcription	Hela-S3	cervix
17	chr19:35746800-35756000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:35747600-35755200	Weak transcription	Fetal Heart	heart
19	chr19:35747800-35755400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:35747800-35755600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:35748400-35756000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr19:35748800-35756600	Weak transcription	Primary T cells from cord blood	blood
23	chr19:35748800-35757600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:35749000-35752600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:35749000-35752600	Weak transcription	Placenta	Placenta
26	chr19:35749000-35753000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr19:35749000-35753800	Strong transcription	Esophagus	oesophagus
28	chr19:35749000-35755000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr19:35749000-35756000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:35749000-35756200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr19:35749000-35756600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr19:35749000-35757000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:35749000-35758000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:35749200-35753800	Strong transcription	HepG2	liver
35	chr19:35749200-35754000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr19:35749200-35756200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr19:35749200-35756600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr19:35749400-35757600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr19:35749600-35752600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr19:35749600-35755000	Weak transcription	Fetal Kidney	kidney
41	chr19:35749800-35754000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr19:35749800-35755200	Weak transcription	Spleen	Spleen
43	chr19:35750200-35755000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:35750200-35755200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr19:35750400-35753800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr19:35750600-35754000	Strong transcription	HMEC	breast
47	chr19:35750600-35754000	Strong transcription	K562	blood
48	chr19:35750600-35755600	Strong transcription	Fetal Stomach	stomach
49	chr19:35750600-35755800	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr19:35751000-35752600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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