Variant report

Variant	rs9370553
Chromosome Location	chr6:56864084-56864085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56862164..56864723-chr6:56874051..56875818,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1007417	1.00[ASN][1000 genomes]
rs1016048	0.99[ASN][1000 genomes]
rs10498814	0.96[EUR][1000 genomes]
rs12175661	0.96[EUR][1000 genomes]
rs13205191	0.96[EUR][1000 genomes]
rs1597694	1.00[ASN][1000 genomes]
rs16888268	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17685356	1.00[ASN][1000 genomes]
rs17758527	0.96[EUR][1000 genomes]
rs17758663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1839837	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2006930	1.00[ASN][1000 genomes]
rs2008698	0.99[ASN][1000 genomes]
rs2306011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28498151	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34589109	0.97[ASN][1000 genomes]
rs34703235	0.96[ASN][1000 genomes]
rs34896907	0.99[ASN][1000 genomes]
rs35553446	0.99[ASN][1000 genomes]
rs4576249	0.96[EUR][1000 genomes]
rs57994994	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58099889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58332182	0.88[EUR][1000 genomes]
rs59106338	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60401134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60910121	0.92[EUR][1000 genomes]
rs62411412	0.88[EUR][1000 genomes]
rs62411417	0.92[EUR][1000 genomes]
rs62411418	0.92[EUR][1000 genomes]
rs62411419	0.92[EUR][1000 genomes]
rs62411420	0.96[EUR][1000 genomes]
rs62411421	0.96[EUR][1000 genomes]
rs62411422	0.96[EUR][1000 genomes]
rs62411423	0.96[EUR][1000 genomes]
rs62411425	0.96[EUR][1000 genomes]
rs62411430	0.96[EUR][1000 genomes]
rs62417377	0.96[EUR][1000 genomes]
rs62417378	0.94[EUR][1000 genomes]
rs62417384	0.99[ASN][1000 genomes]
rs62417385	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62417410	1.00[ASN][1000 genomes]
rs6901192	0.92[ASN][1000 genomes]
rs6901660	1.00[ASN][1000 genomes]
rs6915492	1.00[ASN][1000 genomes]
rs6924882	1.00[ASN][1000 genomes]
rs6935636	1.00[ASN][1000 genomes]
rs720885	0.91[ASN][1000 genomes]
rs7760435	0.99[ASN][1000 genomes]
rs9349842	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9357936	0.96[EUR][1000 genomes]
rs9367700	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9367701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9367702	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9370550	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9370552	1.00[ASN][1000 genomes]
rs9370554	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9382669	0.99[ASN][1000 genomes]
rs9382670	0.99[ASN][1000 genomes]
rs9382673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9382674	1.00[ASN][1000 genomes]
rs9382675	1.00[ASN][1000 genomes]
rs9396238	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9396240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9396245	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9396246	0.99[ASN][1000 genomes]
rs9396249	1.00[ASN][1000 genomes]
rs9396251	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9396254	0.96[EUR][1000 genomes]
rs9464411	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9464412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9464413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9475757	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9475758	0.99[ASN][1000 genomes]
rs9475760	0.99[ASN][1000 genomes]
rs9475761	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9475762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9475763	0.99[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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56846400-56865800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:56858600-56889400	Weak transcription	Brain Hippocampus Middle	brain
3	chr6:56862400-56865400	Weak transcription	Brain Angular Gyrus	brain
4	chr6:56863200-56864400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:56863600-56864600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:56863800-56864200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr6:56863800-56864200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:56863800-56864200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
9	chr6:56863800-56864400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:56863800-56864400	ZNF genes & repeats	Esophagus	oesophagus
11	chr6:56863800-56864400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr6:56863800-56864400	ZNF genes & repeats	HMEC	breast
13	chr6:56863800-56864400	ZNF genes & repeats	NHEK	skin
14	chr6:56863800-56864600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:56863800-56864600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:56863800-56864600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:56863800-56864600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:56863800-56864600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:56863800-56864600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:56863800-56864600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:56863800-56864600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:56863800-56864600	ZNF genes & repeats	A549	lung
23	chr6:56863800-56864800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:56864000-56864600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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