Variant report

Variant	rs12722692
Chromosome Location	chr10:6065374-6065375
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:6064831-6065496	K562	blood:	n/a	n/a
2	CEBPB	chr10:6065312-6065488	HepG2	liver:	n/a	n/a
3	CEBPB	chr10:6065264-6065464	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6056224..6059650-chr10:6062911..6065647,3	MCF-7	breast:
2	chr10:6017825..6020295-chr10:6064566..6066546,2	MCF-7	breast:
3	chr10:6065238..6067128-chr10:6067499..6070251,2	MCF-7	breast:
4	chr10:6065213..6067323-chr10:6136961..6139213,2	MCF-7	breast:
5	chr10:6059419..6064322-chr10:6065224..6067534,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229664	TF binding region
ENSG00000134460	Chromatin interaction
ENSG00000251922	Chromatin interaction
ENSG00000134453	Chromatin interaction
ENSG00000229664	Chromatin interaction
ENSG00000134470	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12243549	1.00[AMR][1000 genomes]
rs12243643	1.00[AMR][1000 genomes]
rs12258919	1.00[AMR][1000 genomes]
rs12722621	1.00[AMR][1000 genomes]
rs12722622	1.00[AMR][1000 genomes]
rs12722653	1.00[AMR][1000 genomes]
rs12722697	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12722701	1.00[AMR][1000 genomes]
rs12722711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6602393	1.00[AMR][1000 genomes]
rs6602394	1.00[AMR][1000 genomes]
rs7896551	1.00[AMR][1000 genomes]
rs7917588	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	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	nsv525927	chr10:6059898-6078079	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6057000-6066000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr10:6057400-6068600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr10:6057800-6069600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr10:6057800-6069800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr10:6058000-6068600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:6059400-6068800	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr10:6060000-6065600	Weak transcription	Esophagus	oesophagus
8	chr10:6060400-6070000	Weak transcription	Lung	lung
9	chr10:6060800-6075800	Weak transcription	Colon Smooth Muscle	Colon
10	chr10:6061200-6070000	Weak transcription	Spleen	Spleen
11	chr10:6061800-6065800	Weak transcription	Gastric	stomach
12	chr10:6062800-6067800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr10:6063000-6067400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr10:6063000-6068400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr10:6063200-6066600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr10:6063200-6067000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr10:6063600-6066000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:6063800-6066000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr10:6064400-6067000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr10:6064600-6065800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:6064600-6066800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:6064800-6066000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:6065000-6065600	Weak transcription	Placenta	Placenta

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