Variant report

Variant	rs72709599
Chromosome Location	chr9:14779997-14779998
allele	A/G
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	CEBPB	chr9:14779678-14780012	HepG2	liver:	n/a	chr9:14779847-14779860 chr9:14779848-14779859 chr9:14779847-14779858
2	POLR2A	chr9:14779079-14780189	HepG2	liver:	n/a	n/a
3	POLR2A	chr9:14779064-14780300	HepG2	liver:	n/a	n/a
4	CEBPB	chr9:14779706-14780011	K562	blood:	n/a	chr9:14779847-14779860 chr9:14779848-14779859 chr9:14779847-14779858
5	JUND	chr9:14779723-14779997	HepG2	liver:	n/a	n/a
6	POLR2A	chr9:14778974-14781709	HepG2	liver:	n/a	n/a
7	POLR2A	chr9:14779067-14780260	HepG2	liver:	n/a	n/a
8	FOSL2	chr9:14779060-14780485	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14778874..14780922-chr9:14784330..14786333,2	K562	blood:

Variant related genes	Relation type
FREM1	TF binding region
ENSG00000164946	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10122887	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10511597	0.81[ASN][1000 genomes]
rs1389735	0.83[ASN][1000 genomes]
rs1494349	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932258	0.81[ASN][1000 genomes]
rs16932262	0.89[ASN][1000 genomes]
rs17291716	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72711305	1.00[ASN][1000 genomes]
rs72711307	1.00[ASN][1000 genomes]
rs72711309	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][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	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3362157	chr9:14542189-14791977	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1025566	chr9:14687088-14791199	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1023955	chr9:14754010-14800259	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2761502	chr9:14757877-14827373	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv831518	chr9:14760638-14953501	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv892615	chr9:14761260-14782367	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv892616	chr9:14762700-14780698	Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv416930	chr9:14778629-14780431	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14745000-14809800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr9:14748800-14790000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:14755800-14812400	Weak transcription	Pancreas	Pancrea
4	chr9:14758400-14793400	Weak transcription	Aorta	Aorta
5	chr9:14764800-14809600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:14766600-14787400	Weak transcription	Fetal Intestine Large	intestine
7	chr9:14768600-14808800	Weak transcription	Fetal Intestine Small	intestine
8	chr9:14768800-14780800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:14769000-14783000	Weak transcription	Colon Smooth Muscle	Colon
10	chr9:14771000-14780200	Weak transcription	Left Ventricle	heart
11	chr9:14773400-14796400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr9:14776200-14782400	Weak transcription	HepG2	liver
13	chr9:14776200-14794000	Weak transcription	Fetal Stomach	stomach
14	chr9:14776400-14782200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:14776400-14782400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr9:14779000-14780000	Enhancers	HSMM	muscle
17	chr9:14779000-14782000	Enhancers	Fetal Brain Male	brain
18	chr9:14779000-14782000	Enhancers	Fetal Muscle Leg	muscle
19	chr9:14779200-14798600	Strong transcription	Fetal Kidney	kidney
20	chr9:14779400-14780400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr9:14779400-14781600	Enhancers	Fetal Brain Female	brain
22	chr9:14779600-14780000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr9:14779600-14780200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:14779600-14780200	Enhancers	Brain Hippocampus Middle	brain
25	chr9:14779600-14780200	Enhancers	Right Ventricle	heart
26	chr9:14779600-14781200	Enhancers	Psoas Muscle	Psoas
27	chr9:14779800-14780000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr9:14779800-14780000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr9:14779800-14780400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr9:14779800-14780400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr9:14779800-14780400	Enhancers	Fetal Heart	heart
32	chr9:14779800-14780400	Flanking Active TSS	HSMMtube	muscle
33	chr9:14779800-14780800	Genic enhancers	Fetal Lung	lung
34	chr9:14779800-14781400	Enhancers	Brain Germinal Matrix	brain
35	chr9:14779800-14789000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:14779800-14853200	Weak transcription	Placenta	Placenta

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