Variant report

Variant	rs73552850
Chromosome Location	chr19:42701245-42701246
allele	A/C
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	E2F6	chr19:42700692-42701285	H1-hESC	embryonic stem cell:	n/a	chr19:42700947-42700958 chr19:42700902-42700911
2	POLR2A	chr19:42701235-42701391	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:42701179-42701389	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:42700583-42702094	HL-60	blood:	n/a	n/a
5	POLR2A	chr19:42700242-42701914	K562	blood:	n/a	n/a
6	CTCF	chr19:42701180-42701330	GM12872	blood:	n/a	n/a
7	POLR2A	chr19:42700903-42701315	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr19:42700720-42701750	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:42700819-42701288	HCT-116	colon:	n/a	n/a
10	POLR2A	chr19:42700850-42701550	HepG2	liver:	n/a	n/a
11	MAX	chr19:42700678-42701308	H1-hESC	embryonic stem cell:	n/a	chr19:42701017-42701027 chr19:42700746-42700755 chr19:42701018-42701029 chr19:42701019-42701028
12	CCNT2	chr19:42700616-42701259	K562	blood:	n/a	chr19:42701083-42701092
13	POLR2A	chr19:42700347-42701459	GM12878	blood:	n/a	n/a
14	BACH1	chr19:42701170-42701940	H1-hESC	embryonic stem cell:	n/a	n/a
15	RELA	chr19:42701105-42701946	GM12891	blood:	n/a	chr19:42701318-42701327 chr19:42701318-42701327
16	POLR2A	chr19:42701181-42701716	PFSK-1	brain:	n/a	n/a
17	RELA	chr19:42701158-42701533	GM19099	blood:	n/a	chr19:42701318-42701327 chr19:42701318-42701327
18	POLR2A	chr19:42700250-42701270	K562	blood:	n/a	n/a
19	POLR2A	chr19:42700213-42701758	SK-N-MC	brain:	n/a	n/a
20	E2F6	chr19:42700409-42701439	H1-hESC	embryonic stem cell:	n/a	chr19:42700947-42700958 chr19:42700902-42700911
21	RELA	chr19:42701157-42701518	GM18951	blood:	n/a	chr19:42701318-42701327 chr19:42701318-42701327
22	POLR2A	chr19:42700218-42702020	K562	blood:	n/a	n/a
23	POLR2A	chr19:42700920-42702143	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42696224..42699166-chr19:42699583..42702405,3	K562	blood:
2	chr19:42695563..42697911-chr19:42700990..42702870,2	MCF-7	breast:
3	chr19:42695492..42697523-chr19:42700242..42702425,2	MCF-7	breast:
4	chr19:42699372..42701986-chr19:42805446..42807216,2	K562	blood:
5	chr19:42701066..42704038-chr19:42771029..42772708,2	K562	blood:

Variant related genes	Relation type
POU2F2	TF binding region
ENSG00000079432	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000265122	Chromatin interaction
ENSG00000188368	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10403246	1.00[AMR][1000 genomes]
rs10408141	1.00[AMR][1000 genomes]
rs10412954	1.00[AMR][1000 genomes]
rs10413896	0.84[AFR][1000 genomes]
rs10414056	1.00[AMR][1000 genomes]
rs10415478	1.00[AMR][1000 genomes]
rs10416241	1.00[AMR][1000 genomes]
rs10418493	1.00[AMR][1000 genomes]
rs10419013	1.00[AMR][1000 genomes]
rs10421026	1.00[AMR][1000 genomes]
rs10425883	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13345986	1.00[AMR][1000 genomes]
rs28532592	1.00[AMR][1000 genomes]
rs35620536	1.00[AMR][1000 genomes]
rs6509012	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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42681800-42703600	Weak transcription	Right Atrium	heart
2	chr19:42689800-42702400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:42689800-42702400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr19:42696600-42702400	Weak transcription	NHLF	lung
5	chr19:42696600-42702800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:42696600-42702800	Weak transcription	Small Intestine	intestine
7	chr19:42696600-42702800	Weak transcription	Osteobl	bone
8	chr19:42696600-42710000	Weak transcription	NH-A	brain
9	chr19:42696600-42712200	Weak transcription	Fetal Kidney	kidney
10	chr19:42697800-42702400	Weak transcription	HepG2	liver
11	chr19:42697800-42702800	Weak transcription	Right Ventricle	heart
12	chr19:42697800-42706800	Weak transcription	Ovary	ovary
13	chr19:42697800-42708800	Weak transcription	NHDF-Ad	bronchial
14	chr19:42697800-42710400	Weak transcription	HSMMtube	muscle
15	chr19:42698000-42702400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:42698000-42707600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr19:42698000-42709800	Weak transcription	HSMM	muscle
18	chr19:42698200-42701400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr19:42698200-42701600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:42698200-42701600	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:42698200-42702400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:42698200-42702400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:42698400-42701400	Weak transcription	Brain Angular Gyrus	brain
24	chr19:42698400-42701600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:42698400-42702400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:42698400-42702400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr19:42698600-42701400	Weak transcription	Fetal Brain Female	brain
28	chr19:42698600-42703000	Weak transcription	Hela-S3	cervix
29	chr19:42698600-42709800	Weak transcription	HUVEC	blood vessel
30	chr19:42698800-42701400	Weak transcription	Left Ventricle	heart
31	chr19:42699000-42701400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr19:42699000-42701600	Weak transcription	Colon Smooth Muscle	Colon
33	chr19:42699000-42703000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr19:42699200-42702800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr19:42699400-42701400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr19:42699400-42702200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr19:42699400-42703000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr19:42699600-42702800	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr19:42699800-42702000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:42699800-42714000	Weak transcription	Fetal Brain Male	brain
41	chr19:42700000-42703000	Weak transcription	Fetal Lung	lung
42	chr19:42700200-42701600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:42700200-42701600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:42700200-42701600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:42700200-42701600	Genic enhancers	Lung	lung
46	chr19:42700200-42701800	Weak transcription	Brain Substantia Nigra	brain
47	chr19:42700200-42702000	Genic enhancers	Gastric	stomach
48	chr19:42700200-42702600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr19:42700200-42702800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:42700200-42703000	Genic enhancers	Primary T cells fromperipheralblood	blood

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