Variant report

Variant	rs10809927
Chromosome Location	chr9:13280297-13280298
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	NRF1	chr9:13278989-13280307	SK-N-SH	brain:	n/a	chr9:13279616-13279625 chr9:13279407-13279416 chr9:13279313-13279327
2	POLR2A	chr9:13279037-13280410	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:13278089..13282078-chr9:14313109..14316114,3	MCF-7	breast:
2	chr9:13275549..13278427-chr9:13279998..13281670,2	K562	blood:

Variant related genes	Relation type
ENSG00000234740	TF binding region
MPDZ	TF binding region
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1023192	0.93[ASN][1000 genomes]
rs1330139	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892578	chr9:12942956-13485035	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv892583	chr9:13166139-13350478	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv892584	chr9:13214871-13350478	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv427838	chr9:13229753-13393890	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3376897	chr9:13277977-13280925	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
6	esv3405883	chr9:13278702-13280900	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13277800-13280400	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr9:13277800-13280400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr9:13278000-13280400	Active TSS	Brain Cingulate Gyrus	brain
4	chr9:13278000-13280400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr9:13278200-13280400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:13278200-13280400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr9:13278400-13280400	Active TSS	Brain Hippocampus Middle	brain
8	chr9:13278400-13280400	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr9:13278400-13280400	Active TSS	Stomach Smooth Muscle	stomach
10	chr9:13278800-13280400	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr9:13278800-13281200	Weak transcription	Fetal Heart	heart
12	chr9:13279800-13284200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:13280000-13280400	Flanking Active TSS	A549	lung
14	chr9:13280200-13280400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:13280200-13280400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr9:13280200-13280400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:13280200-13280400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:13280200-13280400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:13280200-13280400	Bivalent Enhancer	Fetal Intestine Small	intestine
20	chr9:13280200-13280400	Enhancers	HepG2	liver
21	chr9:13280200-13280400	Enhancers	HUVEC	blood vessel
22	chr9:13280200-13280600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:13280200-13280600	Enhancers	Brain Angular Gyrus	brain
24	chr9:13280200-13281000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:13280200-13281000	Enhancers	Fetal Stomach	stomach
26	chr9:13280200-13281000	Weak transcription	Osteobl	bone
27	chr9:13280200-13281200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:13280200-13281800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr9:13280200-13282000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:13280200-13282400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:13280200-13282400	Weak transcription	NH-A	brain
32	chr9:13280200-13282600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:13280200-13282600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr9:13280200-13282600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:13280200-13282600	Weak transcription	NHDF-Ad	bronchial
36	chr9:13280200-13283000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:13280200-13283200	Weak transcription	Fetal Lung	lung
38	chr9:13280200-13283400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr9:13280200-13283600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:13280200-13284000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:13280200-13284000	Enhancers	Colon Smooth Muscle	Colon
42	chr9:13280200-13284000	Weak transcription	Fetal Kidney	kidney
43	chr9:13280200-13284000	Weak transcription	NHLF	lung
44	chr9:13280200-13284400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:13280200-13285200	Weak transcription	Ovary	ovary
46	chr9:13280200-13295600	Weak transcription	Aorta	Aorta

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