Variant report

Variant	rs57050708
Chromosome Location	chr9:94991820-94991821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94991470..94993668-chr9:95052515..95055055,2	K562	blood:
2	chr9:94902303..94904677-chr9:94990181..94992841,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239183	Chromatin interaction
ENSG00000225511	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs16908313	0.95[AFR][1000 genomes]
rs3847319	1.00[AMR][1000 genomes]
rs57363956	0.83[AMR][1000 genomes]
rs57537991	0.95[AFR][1000 genomes]
rs57720908	0.95[AFR][1000 genomes]
rs57829709	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59519008	0.83[AMR][1000 genomes]
rs60752945	1.00[AMR][1000 genomes]
rs60945405	1.00[AMR][1000 genomes]
rs7024757	1.00[AMR][1000 genomes]
rs7027344	1.00[AMR][1000 genomes]
rs73514486	0.83[AMR][1000 genomes]
rs73514487	0.83[AMR][1000 genomes]
rs73514490	0.83[AMR][1000 genomes]
rs73516509	1.00[AMR][1000 genomes]
rs73516514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516542	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516549	1.00[AMR][1000 genomes]
rs73516561	1.00[AMR][1000 genomes]
rs73516563	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518450	0.95[AFR][1000 genomes]
rs73518479	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518492	0.95[AFR][1000 genomes]
rs73520510	0.85[AFR][1000 genomes]
rs73520521	0.88[AFR][1000 genomes]
rs73520537	0.86[AFR][1000 genomes]
rs9775523	1.00[AMR][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	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	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
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94974000-94999000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:94982800-94992400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:94982800-94992400	Strong transcription	Fetal Muscle Leg	muscle
4	chr9:94982800-94993000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr9:94982800-94993800	Strong transcription	Fetal Muscle Trunk	muscle
6	chr9:94982800-95038400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:94982800-95045600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:94983200-94992600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:94984000-95012400	Weak transcription	Stomach Mucosa	stomach
10	chr9:94985200-95001000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr9:94986000-95000600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr9:94988400-95000800	Weak transcription	Aorta	Aorta
13	chr9:94988800-95000400	Weak transcription	Fetal Heart	heart
14	chr9:94990000-94992000	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr9:94990000-94992200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:94990000-94992400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:94990000-94993400	Strong transcription	Brain Anterior Caudate	brain
18	chr9:94990200-94992200	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr9:94990200-94992400	Strong transcription	Fetal Thymus	thymus
20	chr9:94990200-94993600	Strong transcription	Adipose Nuclei	Adipose
21	chr9:94990200-94993600	Strong transcription	HepG2	liver
22	chr9:94990200-95003200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:94990200-95003200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:94990200-95004200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr9:94990200-95054000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:94990400-94992000	Strong transcription	Fetal Lung	lung
27	chr9:94990400-94992200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:94990400-94992200	Strong transcription	NHLF	lung
29	chr9:94990400-94992400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr9:94990400-94992400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:94990400-94992600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr9:94990400-94992600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr9:94990400-94992600	Strong transcription	Fetal Intestine Large	intestine
34	chr9:94990400-94993200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr9:94990400-94993200	Strong transcription	K562	blood
36	chr9:94990400-94993200	Strong transcription	NHEK	skin
37	chr9:94990400-94993400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:94990400-94993600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:94990400-94993600	Strong transcription	A549	lung
40	chr9:94990400-94994000	Strong transcription	Psoas Muscle	Psoas
41	chr9:94990400-94995800	Strong transcription	Primary B cells from cord blood	blood
42	chr9:94990400-94997800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr9:94990400-95004000	Strong transcription	Osteobl	bone
44	chr9:94990400-95004200	Strong transcription	NH-A	brain
45	chr9:94990400-95038200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr9:94990600-94992600	Strong transcription	HSMMtube	muscle
47	chr9:94990600-94994800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:94990600-94997600	Strong transcription	HSMM	muscle
49	chr9:94990600-95004000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:94991000-94992200	Strong transcription	Hela-S3	cervix

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