Variant report

Variant	rs73451455
Chromosome Location	chr9:72775295-72775296
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	JUN	chr9:72775209-72775450	HepG2	liver:	n/a	chr9:72775311-72775324 chr9:72775315-72775324
2	CTCF	chr9:72775260-72775410	GM06990	blood:	n/a	n/a
3	JUND	chr9:72775254-72775475	HepG2	liver:	n/a	chr9:72775315-72775324

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72773930..72775877-chr9:72870890..72873802,2	MCF-7	breast:

Variant related genes	Relation type
MAMDC2-AS1	TF binding region
ENSG00000268364	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs35534839	1.00[AMR][1000 genomes]
rs58615277	1.00[AMR][1000 genomes]
rs59725916	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60072761	1.00[AMR][1000 genomes]
rs60551452	1.00[AMR][1000 genomes]
rs73446762	1.00[AMR][1000 genomes]
rs73446764	1.00[AMR][1000 genomes]
rs73446777	1.00[AMR][1000 genomes]
rs73446778	1.00[AMR][1000 genomes]
rs73446779	1.00[AMR][1000 genomes]
rs73446793	1.00[AMR][1000 genomes]
rs73448646	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73448651	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73448660	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73448663	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73448670	1.00[AMR][1000 genomes]
rs73448904	1.00[AMR][1000 genomes]
rs73449496	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73452732	1.00[AMR][1000 genomes]
rs73452740	1.00[AMR][1000 genomes]
rs73452742	1.00[AMR][1000 genomes]
rs73452745	1.00[AMR][1000 genomes]
rs73452756	1.00[AMR][1000 genomes]
rs73454766	1.00[AMR][1000 genomes]
rs73454769	1.00[AMR][1000 genomes]
rs73456610	1.00[AMR][1000 genomes]
rs73456638	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer 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	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72726800-72785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:72727000-72776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:72741600-72775400	Weak transcription	Adipose Nuclei	Adipose
4	chr9:72741600-72789400	Weak transcription	Spleen	Spleen
5	chr9:72752000-72779600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:72759600-72800000	Weak transcription	Right Ventricle	heart
7	chr9:72759800-72792200	Weak transcription	HMEC	breast
8	chr9:72760000-72785200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:72766200-72785200	Weak transcription	Left Ventricle	heart
10	chr9:72767000-72775400	Weak transcription	Right Atrium	heart
11	chr9:72767400-72780200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:72768600-72780200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:72769000-72776000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr9:72769400-72779800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr9:72770000-72783600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:72771600-72780200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr9:72772000-72775600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:72772000-72775600	Weak transcription	Aorta	Aorta
19	chr9:72772400-72776400	Weak transcription	NHDF-Ad	bronchial
20	chr9:72773200-72783200	Weak transcription	Pancreas	Pancrea
21	chr9:72774200-72775400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr9:72774400-72775800	Enhancers	Fetal Kidney	kidney
23	chr9:72774400-72775800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr9:72774400-72776200	Genic enhancers	HSMMtube	muscle
25	chr9:72774400-72776400	Enhancers	Fetal Muscle Leg	muscle
26	chr9:72774400-72776600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr9:72774600-72776000	Enhancers	Stomach Smooth Muscle	stomach
28	chr9:72774600-72777200	Enhancers	Rectal Smooth Muscle	rectum
29	chr9:72774600-72777600	Enhancers	Colon Smooth Muscle	Colon
30	chr9:72774600-72777800	Enhancers	Fetal Stomach	stomach
31	chr9:72774600-72778000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:72774800-72775600	Enhancers	Fetal Muscle Trunk	muscle
33	chr9:72774800-72775800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:72774800-72776400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:72774800-72780000	Weak transcription	NH-A	brain
36	chr9:72775000-72775800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:72775000-72777000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr9:72775000-72777200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:72775000-72777200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr9:72775200-72775400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr9:72775200-72775800	Enhancers	Ovary	ovary
42	chr9:72775200-72779200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr9:72775200-72779400	Weak transcription	HSMM	muscle
44	chr9:72775200-72783600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr9:72775200-72800000	Weak transcription	Esophagus	oesophagus

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