Variant report

Variant	rs73552847
Chromosome Location	chr19:42701157-42701158
allele	C/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	POLR2A	chr19:42700827-42701179	HepG2	liver:	n/a	n/a
2	E2F6	chr19:42700692-42701285	H1-hESC	embryonic stem cell:	n/a	chr19:42700947-42700958 chr19:42700902-42700911
3	MAX	chr19:42700702-42701225	H1-hESC	embryonic stem cell:	n/a	chr19:42701017-42701027 chr19:42700746-42700755 chr19:42701018-42701029 chr19:42701019-42701028
4	POLR2A	chr19:42700583-42702094	HL-60	blood:	n/a	n/a
5	MAX	chr19:42700864-42701163	H1-hESC	embryonic stem cell:	n/a	chr19:42701017-42701027 chr19:42701018-42701029 chr19:42701019-42701028
6	POLR2A	chr19:42700242-42701914	K562	blood:	n/a	n/a
7	ZBTB33	chr19:42700709-42701182	K562	blood:	n/a	n/a
8	POLR2A	chr19:42700903-42701315	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr19:42700720-42701750	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:42700819-42701288	HCT-116	colon:	n/a	n/a
11	POLR2A	chr19:42700850-42701550	HepG2	liver:	n/a	n/a
12	MAX	chr19:42700678-42701308	H1-hESC	embryonic stem cell:	n/a	chr19:42701017-42701027 chr19:42700746-42700755 chr19:42701018-42701029 chr19:42701019-42701028
13	POLR2A	chr19:42700889-42701215	H1-hESC	embryonic stem cell:	n/a	n/a
14	E2F6	chr19:42700784-42701165	K562	blood:	n/a	chr19:42700947-42700958 chr19:42700902-42700911
15	CCNT2	chr19:42700616-42701259	K562	blood:	n/a	chr19:42701083-42701092
16	BHLHE40	chr19:42700856-42701201	K562	blood:	n/a	n/a
17	BHLHE40	chr19:42700947-42701182	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:42700347-42701459	GM12878	blood:	n/a	n/a
19	RELA	chr19:42701105-42701946	GM12891	blood:	n/a	chr19:42701318-42701327 chr19:42701318-42701327
20	MAX	chr19:42700858-42701178	NB4	blood:	n/a	chr19:42701017-42701027 chr19:42701018-42701029 chr19:42701019-42701028
21	CBX3	chr19:42700783-42701214	K562	blood:	n/a	n/a
22	POLR2A	chr19:42700250-42701270	K562	blood:	n/a	n/a
23	POLR2A	chr19:42700213-42701758	SK-N-MC	brain:	n/a	n/a
24	E2F6	chr19:42700409-42701439	H1-hESC	embryonic stem cell:	n/a	chr19:42700947-42700958 chr19:42700902-42700911
25	RELA	chr19:42701157-42701518	GM18951	blood:	n/a	chr19:42701318-42701327 chr19:42701318-42701327
26	POLR2A	chr19:42700218-42702020	K562	blood:	n/a	n/a
27	MAX	chr19:42700690-42701240	K562	blood:	n/a	chr19:42701017-42701027 chr19:42700746-42700755 chr19:42701018-42701029 chr19:42701019-42701028
28	POLR2A	chr19:42700920-42702143	HL-60	blood:	n/a	n/a
29	MYC	chr19:42700833-42701170	K562	blood:	n/a	chr19:42701017-42701027 chr19:42701018-42701029 chr19:42701019-42701028

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
ENSG00000079462	Chromatin interaction
ENSG00000265122	Chromatin interaction
ENSG00000079432	Chromatin interaction
ENSG00000188368	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1055512	1.00[EUR][1000 genomes]
rs1205964	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1685562	1.00[EUR][1000 genomes]
rs35272495	1.00[EUR][1000 genomes]
rs61733017	1.00[EUR][1000 genomes]
rs7254956	1.00[EUR][1000 genomes]
rs73552843	1.00[EUR][1000 genomes]
rs874013	1.00[EUR][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:121 , 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	chr19:42690200-42701200	Weak transcription	Dnd41	blood
5	chr19:42696200-42701200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:42696600-42702400	Weak transcription	NHLF	lung
7	chr19:42696600-42702800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:42696600-42702800	Weak transcription	Small Intestine	intestine
9	chr19:42696600-42702800	Weak transcription	Osteobl	bone
10	chr19:42696600-42710000	Weak transcription	NH-A	brain
11	chr19:42696600-42712200	Weak transcription	Fetal Kidney	kidney
12	chr19:42697800-42702400	Weak transcription	HepG2	liver
13	chr19:42697800-42702800	Weak transcription	Right Ventricle	heart
14	chr19:42697800-42706800	Weak transcription	Ovary	ovary
15	chr19:42697800-42708800	Weak transcription	NHDF-Ad	bronchial
16	chr19:42697800-42710400	Weak transcription	HSMMtube	muscle
17	chr19:42698000-42701200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:42698000-42701200	Weak transcription	NHEK	skin
19	chr19:42698000-42702400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr19:42698000-42707600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr19:42698000-42709800	Weak transcription	HSMM	muscle
22	chr19:42698200-42701200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr19:42698200-42701400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:42698200-42701600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:42698200-42701600	Weak transcription	Brain Hippocampus Middle	brain
26	chr19:42698200-42702400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:42698200-42702400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:42698400-42701200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:42698400-42701200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr19:42698400-42701400	Weak transcription	Brain Angular Gyrus	brain
31	chr19:42698400-42701600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:42698400-42702400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr19:42698400-42702400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:42698600-42701200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:42698600-42701200	Weak transcription	Stomach Mucosa	stomach
36	chr19:42698600-42701400	Weak transcription	Fetal Brain Female	brain
37	chr19:42698600-42703000	Weak transcription	Hela-S3	cervix
38	chr19:42698600-42709800	Weak transcription	HUVEC	blood vessel
39	chr19:42698800-42701400	Weak transcription	Left Ventricle	heart
40	chr19:42699000-42701400	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr19:42699000-42701600	Weak transcription	Colon Smooth Muscle	Colon
42	chr19:42699000-42703000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr19:42699200-42701200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr19:42699200-42702800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr19:42699400-42701200	Enhancers	Primary T cells from cord blood	blood
46	chr19:42699400-42701200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr19:42699400-42701200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr19:42699400-42701400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr19:42699400-42702200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr19:42699400-42703000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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