Variant report

Variant	rs73619590
Chromosome Location	chr19:55735777-55735778
allele	G/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	BCL3	chr19:55734229-55736128	A549	lung:	n/a	n/a
2	POLR2A	chr19:55733276-55738529	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:55735074-55735868	MCF-7	breast:	n/a	n/a
4	ZNF263	chr19:55735480-55737493	HEK293-T-REx	kidney:	n/a	chr19:55736036-55736045 chr19:55736932-55736953 chr19:55736888-55736909
5	POLR2A	chr19:55735194-55735784	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:55733626-55741033	K562	blood:	n/a	n/a
7	MTA3	chr19:55735434-55735838	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:55733813-55737396	PANC-1	pancreas:	n/a	n/a
9	FOSL2	chr19:55734541-55737859	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:55733892-55736347	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr19:55734698-55735816	A549	lung:	n/a	n/a
12	POLR2A	chr19:55733922-55736375	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr19:55735448-55736160	GM12892	blood:	n/a	n/a
14	POLR2A	chr19:55733922-55736398	K562	blood:	n/a	n/a
15	POLR2A	chr19:55735203-55735788	A549	lung:	n/a	n/a
16	POLR2A	chr19:55734017-55736226	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr19:55734148-55735918	HL-60	blood:	n/a	n/a
18	POLR2A	chr19:55735470-55735815	GM12892	blood:	n/a	n/a
19	POLR2A	chr19:55733852-55735830	PFSK-1	brain:	n/a	n/a
20	BCL3	chr19:55735103-55736153	A549	lung:	n/a	n/a
21	POLR2A	chr19:55731465-55741552	K562	blood:	n/a	n/a
22	POLR2A	chr19:55734005-55736313	HL-60	blood:	n/a	n/a
23	POLR2A	chr19:55735068-55736216	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:55735526-55736244	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr19:55735492-55735819	GM12891	blood:	n/a	n/a
26	POLR2A	chr19:55734075-55736174	GM12878	blood:	n/a	n/a
27	POLR2A	chr19:55734192-55736036	A549	lung:	n/a	n/a
28	POLR2A	chr19:55734075-55736237	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55732279..55738678-chr19:55765531..55770516,7	K562	blood:
2	chr19:55719369..55721514-chr19:55734576..55736795,2	K562	blood:
3	chr19:55733171..55735963-chr19:55753573..55755159,2	K562	blood:

Variant related genes	Relation type
ENSG00000269808	TF binding region
ENSG00000080031	Chromatin interaction
ENSG00000105063	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17851414	1.00[AMR][1000 genomes]
rs59551167	1.00[AMR][1000 genomes]
rs60578937	1.00[AMR][1000 genomes]
rs7252420	1.00[AMR][1000 genomes]
rs73605127	1.00[AMR][1000 genomes]
rs73605140	1.00[AMR][1000 genomes]
rs73605148	1.00[AMR][1000 genomes]
rs73605165	1.00[AMR][1000 genomes]
rs73605195	1.00[AMR][1000 genomes]
rs73607029	1.00[AMR][1000 genomes]
rs73607052	1.00[AMR][1000 genomes]
rs73619602	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621321	1.00[AMR][1000 genomes]
rs73621332	1.00[AMR][1000 genomes]
rs73621334	1.00[AMR][1000 genomes]
rs73621343	1.00[AMR][1000 genomes]
rs73621359	1.00[AMR][1000 genomes]
rs73621364	1.00[AMR][1000 genomes]
rs73621369	1.00[AMR][1000 genomes]
rs73621370	1.00[AMR][1000 genomes]
rs9676742	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912454	chr19:55725410-55783552	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
6	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 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	chr19:55728600-55737400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr19:55728600-55737600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:55728600-55740200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr19:55728600-55741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:55728600-55742400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr19:55728800-55737000	Weak transcription	Colonic Mucosa	Colon
7	chr19:55728800-55737000	Weak transcription	Stomach Mucosa	stomach
8	chr19:55728800-55737200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:55728800-55737400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:55728800-55737400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr19:55728800-55737400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr19:55728800-55737600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr19:55728800-55737800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:55728800-55738200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr19:55728800-55738400	Weak transcription	Fetal Heart	heart
16	chr19:55728800-55738400	Weak transcription	Osteobl	bone
17	chr19:55728800-55738600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr19:55728800-55739200	Weak transcription	Left Ventricle	heart
19	chr19:55728800-55739600	Weak transcription	GM12878-XiMat	blood
20	chr19:55728800-55740000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr19:55728800-55740600	Weak transcription	Small Intestine	intestine
22	chr19:55728800-55741000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr19:55728800-55742400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:55728800-55743800	Weak transcription	HSMM	muscle
25	chr19:55728800-55744000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:55728800-55745600	Weak transcription	HSMMtube	muscle
27	chr19:55728800-55747800	Weak transcription	Psoas Muscle	Psoas
28	chr19:55728800-55747800	Weak transcription	NH-A	brain
29	chr19:55729000-55737000	Weak transcription	Brain Substantia Nigra	brain
30	chr19:55729000-55737200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:55729000-55737200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr19:55729000-55737400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:55729000-55737400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:55729000-55737400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr19:55729000-55737800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:55729000-55737800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:55729000-55738000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr19:55729000-55738200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr19:55729000-55738200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:55729200-55738000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:55729200-55738400	Weak transcription	NHEK	skin
42	chr19:55729400-55736800	Weak transcription	Brain Angular Gyrus	brain
43	chr19:55729400-55737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:55729400-55744000	Weak transcription	NHDF-Ad	bronchial
45	chr19:55729400-55766200	Weak transcription	Fetal Brain Male	brain
46	chr19:55729600-55735800	Weak transcription	HepG2	liver
47	chr19:55729600-55736800	Weak transcription	K562	blood
48	chr19:55729600-55737400	Weak transcription	Hela-S3	cervix
49	chr19:55730800-55744000	Weak transcription	Fetal Kidney	kidney
50	chr19:55732000-55737000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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