Variant report

Variant	rs551252789
Chromosome Location	chr9:72286160-72286161
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	chr9:72286150-72288240	H1-neurons	neurons:	n/a	n/a
2	CTCF	chr9:72286001-72288515	SK-N-SH	brain:	n/a	chr9:72287629-72287642 chr9:72288204-72288214 chr9:72287510-72287523 chr9:72287953-72287962 chr9:72288010-72288019
3	MAFK	chr9:72286114-72286252	HepG2	liver:	n/a	n/a
4	CTCF	chr9:72286040-72286190	GM12871	blood:	n/a	n/a
5	POLR2A	chr9:72286082-72288205	H1-neurons	neurons:	n/a	n/a
6	RAD21	chr9:72285926-72288545	SK-N-SH	brain:	n/a	chr9:72287629-72287643 chr9:72286908-72286918 chr9:72287509-72287523 chr9:72287335-72287348
7	REST	chr9:72286012-72288556	H1-neurons	neurons:	n/a	chr9:72287119-72287126 chr9:72288032-72288045 chr9:72287792-72287806

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72265675..72268152-chr9:72283798..72286751,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261447	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471309	chr9:72273898-72410323	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv3389299	chr9:72286157-72289005	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72260600-72286200	Weak transcription	Aorta	Aorta
2	chr9:72277400-72286200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:72283800-72286400	Weak transcription	Right Atrium	heart
4	chr9:72285200-72286200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr9:72285200-72286600	Flanking Active TSS	Fetal Brain Female	brain
6	chr9:72285400-72286200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:72285400-72286200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
8	chr9:72285400-72286200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr9:72285400-72286600	Flanking Active TSS	Fetal Brain Male	brain
10	chr9:72285400-72286800	Flanking Active TSS	Liver	Liver
11	chr9:72285400-72288400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr9:72285600-72286200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
13	chr9:72285600-72286200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:72285600-72286200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr9:72285600-72286200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:72285600-72286200	Enhancers	Fetal Heart	heart
17	chr9:72285600-72286200	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr9:72285600-72286200	Enhancers	Ovary	ovary
19	chr9:72285600-72286200	Active TSS	Rectal Smooth Muscle	rectum
20	chr9:72285600-72286200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr9:72285600-72286200	Bivalent Enhancer	HUVEC	blood vessel
22	chr9:72285600-72286600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr9:72285600-72286600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:72285600-72286600	Bivalent Enhancer	Spleen	Spleen
25	chr9:72285800-72286200	Enhancers	NHLF	lung
26	chr9:72285800-72286400	Enhancers	Right Ventricle	heart
27	chr9:72286000-72286200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:72286000-72286200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:72286000-72286200	Active TSS	Muscle Satellite Cultured Cells	--
30	chr9:72286000-72286200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr9:72286000-72286200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr9:72286000-72286200	Active TSS	Fetal Muscle Trunk	muscle
33	chr9:72286000-72286200	Enhancers	Stomach Smooth Muscle	stomach
34	chr9:72286000-72286200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr9:72286000-72286200	Active TSS	NH-A	brain
36	chr9:72286000-72286400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
37	chr9:72286000-72286400	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr9:72286000-72286400	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr9:72286000-72286400	Flanking Active TSS	Fetal Stomach	stomach
40	chr9:72286000-72286600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:72286000-72286600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:72286000-72286600	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr9:72286000-72286600	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr9:72286000-72286600	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr9:72286000-72286600	Flanking Active TSS	Fetal Kidney	kidney
46	chr9:72286000-72286600	Flanking Active TSS	Fetal Lung	lung
47	chr9:72286000-72286600	Flanking Active TSS	NHDF-Ad	bronchial
48	chr9:72286000-72286800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:72286000-72286800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr9:72286000-72286800	Flanking Active TSS	Colon Smooth Muscle	Colon

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