Variant report

Variant	rs357524
Chromosome Location	chr9:98189165-98189166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:358)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:98188936-98189430	HepG2	liver:	n/a	n/a
2	GABPA	chr9:98188994-98189395	HepG2	liver:	n/a	n/a
3	HEY1	chr9:98188830-98189452	HepG2	liver:	n/a	n/a
4	POLR2A	chr9:98188828-98189528	GM12892	blood:	n/a	n/a
5	MAX	chr9:98188548-98189755	HCT-116	colon:	n/a	n/a
6	CBX3	chr9:98188729-98189770	HCT-116	colon:	n/a	n/a
7	YY1	chr9:98188896-98189455	ECC-1	luminal epithelium:	n/a	n/a
8	MAZ	chr9:98188787-98189395	HepG2	liver:	n/a	n/a
9	POLR2A	chr9:98188945-98189192	Raji	blood:	n/a	n/a
10	POLR2A	chr9:98188723-98189738	K562	blood:	n/a	n/a
11	EP300	chr9:98188864-98189620	ECC-1	luminal epithelium:	n/a	n/a
12	ETS1	chr9:98188973-98189380	K562	blood:	n/a	n/a
13	POLR2A	chr9:98188895-98189175	GM12892	blood:	n/a	n/a
14	CHD2	chr9:98188481-98189501	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr9:98188955-98189386	A549	lung:	n/a	n/a
16	HEY1	chr9:98188847-98189505	K562	blood:	n/a	n/a
17	EGR1	chr9:98188934-98189317	K562	blood:	n/a	n/a
18	TAF1	chr9:98188972-98189165	PFSK-1	brain:	n/a	n/a
19	TBL1XR1	chr9:98188822-98189439	K562	blood:	n/a	n/a
20	ZBTB33	chr9:98188932-98189433	HCT-116	colon:	n/a	n/a
21	CEBPD	chr9:98188919-98189368	HepG2	liver:	n/a	n/a
22	TEAD4	chr9:98188794-98189570	K562	blood:	n/a	n/a
23	POLR2A	chr9:98188897-98189436	GM10847	blood:	n/a	n/a
24	TAF1	chr9:98188917-98189306	HepG2	liver:	n/a	n/a
25	POLR2A	chr9:98188920-98189424	A549	lung:	n/a	n/a
26	SRF	chr9:98189160-98189322	HepG2	liver:	n/a	chr9:98189299-98189309
27	E2F6	chr9:98188858-98189571	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr9:98188848-98189524	HCT-116	colon:	n/a	n/a
29	FOS	chr9:98189035-98189372	MCF10A-Er-Src	breast:	n/a	n/a
30	ZBTB7A	chr9:98188967-98189373	K562	blood:	n/a	n/a
31	POLR2A	chr9:98188582-98189622	MCF-7	breast:	n/a	n/a
32	SIX5	chr9:98189133-98189378	GM12878	blood:	n/a	n/a
33	E2F6	chr9:98188249-98189608	A549	lung:	n/a	n/a
34	ELF1	chr9:98188901-98189545	MCF-7	breast:	n/a	chr9:98189215-98189228 chr9:98189191-98189204
35	YY1	chr9:98188813-98189354	HepG2	liver:	n/a	n/a
36	SP4	chr9:98188878-98189217	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr9:98188880-98189382	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr9:98188879-98189468	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr9:98188438-98189508	A549	lung:	n/a	n/a
40	POLR2A	chr9:98188216-98189638	Hela-S3	cervix:	n/a	n/a
41	YY1	chr9:98188931-98189314	GM12892	blood:	n/a	n/a
42	POLR2A	chr9:98188932-98189394	HepG2	liver:	n/a	n/a
43	POLR2A	chr9:98188601-98189503	GM12892	blood:	n/a	n/a
44	ZMIZ1	chr9:98188523-98189440	K562	blood:	n/a	n/a
45	SIN3AK20	chr9:98188822-98189590	MCF-7	breast:	n/a	n/a
46	RCOR1	chr9:98189001-98189684	K562	blood:	n/a	n/a
47	RFX5	chr9:98188994-98189369	HepG2	liver:	n/a	n/a
48	MAZ	chr9:98188311-98189442	Hela-S3	cervix:	n/a	n/a
49	BHLHE40	chr9:98188530-98189598	K562	blood:	n/a	n/a
50	ATF2	chr9:98189088-98189467	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:98187644..98190286-chr9:98266151..98268622,2	K562	blood:
2	chr9:98187685..98192036-chr9:98266677..98274746,12	MCF-7	breast:
3	chr9:98189018..98191444-chr9:98246516..98248115,2	MCF-7	breast:
4	chr9:98186276..98191956-chr9:98269234..98276633,9	K562	blood:
5	chr9:98187259..98193172-chr9:98208629..98217669,12	MCF-7	breast:
6	chr9:98167871..98172268-chr9:98186784..98190412,5	MCF-7	breast:
7	chr9:98173730..98177988-chr9:98187520..98191004,5	K562	blood:
8	chr9:98173705..98177734-chr9:98187506..98190870,3	MCF-7	breast:
9	chr9:98187278..98190652-chr9:98265637..98273315,6	K562	blood:
10	chr9:98078552..98082181-chr9:98188850..98192317,4	MCF-7	breast:
11	chr9:98187335..98191305-chr9:98637767..98639481,3	MCF-7	breast:
12	chr10:14879889..14880461-chr9:98188785..98189543,2	HCT-116	colon:
13	chr9:98174491..98183187-chr9:98187141..98190074,10	K562	blood:
14	chr9:98188569..98190136-chr9:98266994..98268557,2	MCF-7	breast:
15	chr9:98188670..98189479-chr9:98637800..98638512,2	Hela-S3	cervix:
16	chr9:98187696..98190762-chr9:98268567..98271378,5	MCF-7	breast:
17	chr4:84456903..84457679-chr9:98188999..98189686,2	HCT-116	colon:
18	chr9:98188917..98190953-chr9:98637709..98639661,2	MCF-7	breast:
19	chr9:98171235..98175849-chr9:98186797..98190089,10	MCF-7	breast:
20	chr12:52445014..52445648-chr9:98188994..98189705,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000237857	TF binding region
ENSG00000175611	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000271384	Chromatin interaction
ENSG00000182150	Chromatin interaction
ENSG00000185920	Chromatin interaction
ENSG00000213761	Chromatin interaction
ENSG00000158169	Chromatin interaction
ENSG00000138678	Chromatin interaction
ENSG00000271155	Chromatin interaction
ENSG00000271659	Chromatin interaction
ENSG00000187522	Chromatin interaction
ENSG00000185267	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28517704	0.84[ASN][1000 genomes]
rs28615951	0.84[ASN][1000 genomes]
rs357520	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs357523	0.85[ASN][1000 genomes]
rs357526	0.84[EUR][1000 genomes]
rs357556	0.80[EUR][1000 genomes]
rs357560	0.83[EUR][1000 genomes]
rs357561	0.80[EUR][1000 genomes]
rs357562	0.83[EUR][1000 genomes]
rs613040	0.84[EUR][1000 genomes]
rs61652825	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831657	chr9:97959274-98204769	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv831658	chr9:98152971-98342178	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1051731	chr9:98154815-98201115	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs357524	RP11-80I15.4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98187800-98190000	Active TSS	A549	lung
2	chr9:98188000-98189400	Active TSS	GM12878-XiMat	blood
3	chr9:98188000-98189400	Active TSS	K562	blood
4	chr9:98188000-98189600	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr9:98188000-98189600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr9:98188000-98189800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr9:98188200-98189200	Bivalent Enhancer	Primary B cells from cord blood	blood
8	chr9:98188200-98189200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr9:98188200-98189400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:98188200-98189400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:98188200-98189400	Enhancers	Fetal Brain Male	brain
12	chr9:98188200-98189600	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr9:98188200-98189800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr9:98188200-98189800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:98188200-98189800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:98188200-98190000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr9:98188400-98189200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:98188400-98189200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:98188400-98189200	Active TSS	Lung	lung
20	chr9:98188400-98189400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr9:98188400-98189400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:98188400-98189400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:98188400-98189400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:98188400-98189400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr9:98188400-98189400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:98188400-98189400	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr9:98188400-98189400	Active TSS	Small Intestine	intestine
28	chr9:98188400-98189600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr9:98188400-98189600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:98188400-98189600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:98188400-98189600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:98188400-98189600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:98188400-98189600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr9:98188400-98189600	Active TSS	Esophagus	oesophagus
35	chr9:98188400-98189600	Active TSS	Left Ventricle	heart
36	chr9:98188400-98189600	Active TSS	Pancreas	Pancrea
37	chr9:98188400-98189800	Active TSS	Rectal Smooth Muscle	rectum
38	chr9:98188400-98189800	Active TSS	Hela-S3	cervix
39	chr9:98188400-98189800	Active TSS	NHEK	skin
40	chr9:98188400-98190000	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr9:98188600-98189200	Active TSS	Brain Hippocampus Middle	brain
42	chr9:98188600-98189200	Active TSS	NHDF-Ad	bronchial
43	chr9:98188600-98189400	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr9:98188600-98189400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:98188600-98189400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr9:98188600-98189400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr9:98188600-98189400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr9:98188600-98189400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:98188600-98189400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr9:98188600-98189400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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