Variant report

Variant	rs73520599
Chromosome Location	chr9:95265685-95265686
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95261329..95263829-chr9:95264776..95266744,2	K562	blood:
2	chr9:95264347..95266316-chr9:95432237..95434126,2	K562	blood:

Variant related genes	Relation type
ENSG00000127080	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16908313	0.83[AFR][1000 genomes]
rs35161698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57537991	0.83[AFR][1000 genomes]
rs57720908	0.83[AFR][1000 genomes]
rs57829709	0.83[AFR][1000 genomes]
rs59633583	1.00[AMR][1000 genomes]
rs60863225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7035992	0.85[AMR][1000 genomes]
rs73516542	0.83[AFR][1000 genomes]
rs73516563	0.83[AFR][1000 genomes]
rs73518450	0.83[AFR][1000 genomes]
rs73518492	0.83[AFR][1000 genomes]
rs73520510	0.87[AFR][1000 genomes]
rs73520521	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73520537	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73520539	0.85[AMR][1000 genomes]
rs73520554	1.00[AMR][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	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv1822933	chr9:95255176-95293308	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	6 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	chr9:95231800-95268800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:95246400-95267000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:95252200-95266400	Weak transcription	NHLF	lung
4	chr9:95252400-95266200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:95252600-95269400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr9:95255000-95274600	Weak transcription	Liver	Liver
7	chr9:95255400-95266600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr9:95255400-95269400	Weak transcription	Right Ventricle	heart
9	chr9:95256600-95266000	Weak transcription	Fetal Lung	lung
10	chr9:95256800-95267000	Weak transcription	Fetal Stomach	stomach
11	chr9:95257600-95266800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:95258200-95268000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:95258600-95268200	Weak transcription	Fetal Heart	heart
14	chr9:95261400-95268200	Weak transcription	Brain Substantia Nigra	brain
15	chr9:95261600-95266000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:95261600-95266200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:95261600-95266200	Weak transcription	Right Atrium	heart
18	chr9:95261800-95265800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr9:95262200-95269800	Weak transcription	Fetal Thymus	thymus
20	chr9:95262200-95270000	Weak transcription	Brain Anterior Caudate	brain
21	chr9:95262400-95268200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:95263400-95267400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:95264200-95268200	Weak transcription	Brain Hippocampus Middle	brain
24	chr9:95264400-95266200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:95264400-95268200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr9:95264600-95266200	Weak transcription	Esophagus	oesophagus
27	chr9:95264600-95266600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:95264600-95266600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:95264600-95266600	Weak transcription	Aorta	Aorta
30	chr9:95264600-95266600	Weak transcription	HMEC	breast
31	chr9:95264600-95266600	Weak transcription	K562	blood
32	chr9:95264600-95267800	Weak transcription	HSMMtube	muscle
33	chr9:95264600-95268200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr9:95264600-95269000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr9:95264600-95270000	Weak transcription	Lung	lung
36	chr9:95264800-95265800	Weak transcription	Adipose Nuclei	Adipose
37	chr9:95264800-95266000	Weak transcription	Colon Smooth Muscle	Colon
38	chr9:95264800-95266000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr9:95264800-95266200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:95264800-95266200	Weak transcription	Ovary	ovary
41	chr9:95264800-95266200	Weak transcription	NHEK	skin
42	chr9:95264800-95266400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:95264800-95266400	Weak transcription	Osteobl	bone
44	chr9:95264800-95266600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:95264800-95266600	Weak transcription	Fetal Muscle Leg	muscle
46	chr9:95264800-95266600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr9:95264800-95266600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr9:95264800-95266600	Weak transcription	NHDF-Ad	bronchial
49	chr9:95264800-95267000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr9:95264800-95270000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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