Variant report

Variant	rs12722492
Chromosome Location	chr10:6100471-6100472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6082910..6085859-chr10:6100241..6103147,2	K562	blood:
2	chr10:6099232..6101720-chr10:6133496..6135887,2	K562	blood:
3	chr10:6087719..6090025-chr10:6099412..6101366,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12722491	0.80[EUR][1000 genomes]
rs12722494	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12722498	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12722503	0.93[AMR][1000 genomes]
rs12722528	0.93[AMR][1000 genomes]
rs12722608	0.81[AMR][1000 genomes]
rs17421433	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1924137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228149	0.82[AMR][1000 genomes]
rs2274037	0.84[AMR][1000 genomes]
rs41294647	0.81[AMR][1000 genomes]
rs41294685	0.82[AMR][1000 genomes]
rs41294927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294935	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41295051	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62626316	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62626324	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72776071	0.84[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	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv894814	chr10:6078032-6100725	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6093400-6101000	Weak transcription	Psoas Muscle	Psoas
2	chr10:6093400-6102800	Enhancers	Primary B cells from peripheral blood	blood
3	chr10:6093800-6104200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr10:6096200-6102000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr10:6096200-6107400	Weak transcription	Placenta	Placenta
6	chr10:6096400-6102800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr10:6096400-6103800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:6096600-6100600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr10:6096600-6103600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr10:6097200-6102200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:6097800-6102200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
12	chr10:6098000-6104400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
13	chr10:6098200-6102000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr10:6098400-6102000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr10:6099000-6101000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr10:6099000-6103800	Weak transcription	Spleen	Spleen
17	chr10:6099000-6104000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:6099200-6102000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr10:6099200-6103600	Weak transcription	Primary B cells from cord blood	blood
20	chr10:6099600-6101200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:6099600-6103600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr10:6099800-6104000	Weak transcription	Lung	lung
23	chr10:6100000-6102800	Weak transcription	Adipose Nuclei	Adipose
24	chr10:6100000-6103800	Weak transcription	Left Ventricle	heart
25	chr10:6100200-6100800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr10:6100200-6101200	Flanking Active TSS	GM12878-XiMat	blood
27	chr10:6100200-6102800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr10:6100400-6100800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr10:6100400-6101000	Enhancers	Primary T cells from cord blood	blood

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