Variant report

Variant	rs12722617
Chromosome Location	chr10:6104731-6104732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr10:6104418-6104753	GM12878	blood:	n/a	chr10:6104449-6104465
2	WRNIP1	chr10:6104565-6104749	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
IL2RA	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11256192	1.00[AMR][1000 genomes]
rs12722616	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12722645	1.00[AMR][1000 genomes]
rs12722646	1.00[AMR][1000 genomes]
rs12722652	1.00[AMR][1000 genomes]
rs12722655	1.00[AMR][1000 genomes]
rs12722656	1.00[AMR][1000 genomes]
rs12722662	1.00[AMR][1000 genomes]
rs12722668	1.00[AMR][1000 genomes]
rs12722685	1.00[AMR][1000 genomes]
rs41309776	1.00[AMR][1000 genomes]
rs74116010	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74116012	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74116013	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74116014	1.00[AMR][1000 genomes]
rs74116017	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177601	1.00[AMR][1000 genomes]
rs8177602	1.00[AMR][1000 genomes]
rs8177605	1.00[AMR][1000 genomes]
rs8177616	1.00[AMR][1000 genomes]
rs8177659	1.00[AMR][1000 genomes]
rs8177678	1.00[AMR][1000 genomes]
rs8177686	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6096200-6107400	Weak transcription	Placenta	Placenta
2	chr10:6101800-6104800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:6102000-6104800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr10:6102000-6105200	Enhancers	Primary hematopoietic stem cells	blood
5	chr10:6102200-6105000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr10:6102200-6107400	Weak transcription	Right Atrium	heart
7	chr10:6102200-6107400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:6103200-6104800	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr10:6103400-6104800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:6103400-6105000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr10:6103600-6104800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr10:6103600-6104800	Flanking Active TSS	GM12878-XiMat	blood
13	chr10:6103600-6105000	Enhancers	Primary B cells from cord blood	blood
14	chr10:6103800-6104800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr10:6103800-6104800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr10:6103800-6105000	Enhancers	Fetal Thymus	thymus
17	chr10:6103800-6105000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr10:6104000-6104800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:6104000-6104800	Enhancers	Lung	lung
20	chr10:6104000-6104800	Bivalent Enhancer	Dnd41	blood
21	chr10:6104000-6105200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr10:6104200-6105200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:6104200-6107200	Weak transcription	Left Ventricle	heart
24	chr10:6104200-6112600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr10:6104400-6104800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr10:6104400-6104800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr10:6104400-6105000	Enhancers	Primary B cells from peripheral blood	blood
28	chr10:6104400-6105000	Enhancers	Thymus	Thymus
29	chr10:6104400-6105200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr10:6104400-6107400	Weak transcription	Adipose Nuclei	Adipose
31	chr10:6104400-6107600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr10:6104600-6105000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr10:6104600-6105000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr10:6104600-6105000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr10:6104600-6105000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr10:6104600-6105200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr10:6104600-6105200	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr10:6104600-6107400	Weak transcription	Spleen	Spleen
39	chr10:6104600-6111800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr10:6104600-6113600	Weak transcription	Rectal Mucosa Donor 29	rectum

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