Variant report

Variant	rs58464193
Chromosome Location	chr19:57018694-57018695
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	NRF1	chr19:57018621-57020372	SK-N-SH	brain:	n/a	chr19:57019014-57019028 chr19:57019208-57019219 chr19:57019011-57019025 chr19:57019016-57019025 chr19:57019210-57019219 chr19:57019208-57019222 chr19:57019014-57019025
2	MXI1	chr19:57018571-57020457	IMR90	lung:	n/a	chr19:57020209-57020218
3	E2F6	chr19:57018562-57019214	H1-hESC	embryonic stem cell:	n/a	chr19:57019015-57019024
4	MXI1	chr19:57018675-57019492	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr19:57018632-57019643	ECC-1	luminal epithelium:	n/a	chr19:57019280-57019290 chr19:57018895-57018904
6	RAD21	chr19:57018649-57019187	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr19:57018519-57020072	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr19:57018640-57020092	H1-neurons	neurons:	n/a	n/a
9	REST	chr19:57018371-57020050	H1-neurons	neurons:	n/a	chr19:57018882-57018889
10	SIN3AK20	chr19:57018666-57019142	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr19:57018659-57019690	SK-N-SH	brain:	n/a	chr19:57019280-57019290 chr19:57018895-57018904
12	SETDB1	chr19:57018560-57019103	U2OS	brain:	n/a	chr19:57019015-57019024
13	MXI1	chr19:57018355-57020592	SK-N-SH	brain:	n/a	chr19:57020209-57020218
14	MAZ	chr19:57018669-57020086	IMR90	lung:	n/a	chr19:57019280-57019290 chr19:57018895-57018904
15	MAX	chr19:57018555-57019580	SK-N-SH	brain:	n/a	chr19:57019280-57019290 chr19:57018895-57018904
16	MAX	chr19:57018569-57019503	ECC-1	luminal epithelium:	n/a	chr19:57019280-57019290 chr19:57018895-57018904
17	POLR2A	chr19:57018674-57020096	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ZNF471	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs57355484	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58021248	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59624311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59653857	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60067324	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60601332	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60745037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60755043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61159046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73616007	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73616009	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73616014	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73616015	1.00[AMR][1000 genomes]
rs73628501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629909	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629951	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629985	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv580385	chr19:56918598-57072433	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv1057240	chr19:56919831-57153659	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv544097	chr19:56919831-57153659	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv580386	chr19:56924761-57072433	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv1055357	chr19:56933632-57190007	ZNF genes & repeats Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv912518	chr19:56995737-57109821	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:57003000-57018800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:57007800-57019200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:57017200-57019000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:57018200-57019600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr19:57018200-57019800	Active TSS	Brain Hippocampus Middle	brain
6	chr19:57018200-57019800	Active TSS	Fetal Lung	lung
7	chr19:57018200-57020200	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr19:57018400-57018800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:57018400-57018800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr19:57018400-57018800	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr19:57018400-57018800	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr19:57018400-57018800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:57018400-57018800	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr19:57018400-57018800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr19:57018400-57019000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr19:57018400-57019000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:57018400-57019000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:57018400-57019000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr19:57018400-57019000	Flanking Active TSS	NHEK	skin
20	chr19:57018400-57019000	Flanking Active TSS	Osteobl	bone
21	chr19:57018400-57019400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
22	chr19:57018400-57019600	Active TSS	H1 Cell Line	embryonic stem cell
23	chr19:57018400-57019800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:57018400-57019800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:57018400-57019800	Active TSS	Brain Angular Gyrus	brain
26	chr19:57018400-57019800	Active TSS	Brain Cingulate Gyrus	brain
27	chr19:57018400-57019800	Active TSS	Brain Substantia Nigra	brain
28	chr19:57018400-57019800	Active TSS	Colon Smooth Muscle	Colon
29	chr19:57018400-57019800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr19:57018400-57019800	Active TSS	Right Atrium	heart
31	chr19:57018400-57019800	Active TSS	HSMMtube	muscle
32	chr19:57018400-57019800	Active TSS	NHLF	lung
33	chr19:57018400-57020000	Active TSS	Psoas Muscle	Psoas
34	chr19:57018400-57020400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:57018400-57020400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr19:57018600-57018800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:57018600-57018800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:57018600-57018800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr19:57018600-57018800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr19:57018600-57018800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:57018600-57018800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr19:57018600-57018800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr19:57018600-57018800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:57018600-57018800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:57018600-57018800	Flanking Active TSS	Placenta	Placenta
46	chr19:57018600-57018800	Flanking Active TSS	Left Ventricle	heart
47	chr19:57018600-57018800	Enhancers	Lung	lung
48	chr19:57018600-57018800	Flanking Active TSS	HSMM	muscle
49	chr19:57018600-57019000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:57018600-57019000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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