Variant report

Variant	rs58792764
Chromosome Location	chr21:46338329-46338330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr21:46337546-46338441	MCF-7	breast:	n/a	n/a
2	STAT5A	chr21:46338260-46338565	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:46291806..46295559-chr21:46335949..46338693,3	MCF-7	breast:
2	chr21:46327205..46330783-chr21:46335855..46340045,3	K562	blood:
3	chr21:46329208..46333595-chr21:46335973..46340753,6	K562	blood:
4	chr21:46337913..46339434-chr6:26055489..26057799,2	MCF-7	breast:
5	chr21:46336914..46339376-chr21:46350167..46352688,2	K562	blood:

No data

Variant related genes	Relation type
ITGB2	TF binding region
ITGB2-AS1	TF binding region
ENSG00000187837	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000160255	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2026883	1.00[AMR][1000 genomes]
rs58838439	1.00[AMR][1000 genomes]
rs73376545	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv933240	chr21:46305956-46371518	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv913974	chr21:46306161-46430792	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
10	nsv1064518	chr21:46317690-46413159	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46295600-46338800	Weak transcription	Right Atrium	heart
2	chr21:46332200-46338800	Weak transcription	Pancreas	Pancrea
3	chr21:46332200-46339800	Weak transcription	Lung	lung
4	chr21:46333800-46338800	Weak transcription	Gastric	stomach
5	chr21:46334400-46338800	Weak transcription	Esophagus	oesophagus
6	chr21:46334400-46339200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:46335200-46338600	Genic enhancers	Primary B cells from peripheral blood	blood
8	chr21:46335400-46339400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
9	chr21:46335600-46338600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr21:46337000-46338400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
11	chr21:46337000-46338400	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
12	chr21:46337000-46338600	Enhancers	GM12878-XiMat	blood
13	chr21:46337000-46338800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
14	chr21:46337000-46338800	Genic enhancers	Primary B cells from cord blood	blood
15	chr21:46337000-46338800	Enhancers	Duodenum Mucosa	Duodenum
16	chr21:46337000-46338800	Genic enhancers	Fetal Thymus	thymus
17	chr21:46337000-46339000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
18	chr21:46337000-46339000	Enhancers	Liver	Liver
19	chr21:46337000-46339200	Genic enhancers	Thymus	Thymus
20	chr21:46337000-46339400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:46337200-46338800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr21:46337400-46338400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr21:46337400-46338400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr21:46337400-46338600	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
25	chr21:46337400-46338600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:46337400-46338800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
27	chr21:46337400-46338800	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr21:46337400-46338800	Genic enhancers	Spleen	Spleen
29	chr21:46337400-46339000	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
30	chr21:46337400-46339000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr21:46337400-46339200	Bivalent Enhancer	Adipose Nuclei	Adipose
32	chr21:46337400-46339200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr21:46337400-46339400	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
34	chr21:46337600-46338600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
35	chr21:46337600-46339200	Enhancers	Primary hematopoietic stem cells	blood
36	chr21:46337600-46339200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr21:46337800-46339200	Genic enhancers	Dnd41	blood
38	chr21:46337800-46339800	Enhancers	HepG2	liver
39	chr21:46338000-46338400	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr21:46338000-46338600	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
41	chr21:46338000-46338600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr21:46338000-46339000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr21:46338000-46340000	Weak transcription	Fetal Intestine Large	intestine
44	chr21:46338000-46344400	Weak transcription	HSMM	muscle
45	chr21:46338200-46338800	Bivalent/Poised TSS	Colonic Mucosa	Colon
46	chr21:46338200-46339000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr21:46338200-46339000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr21:46338200-46339200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr21:46338200-46339200	Bivalent Enhancer	Placenta	Placenta

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