Variant report

Variant	rs566187978
Chromosome Location	chr21:45283874-45283875
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr21:45283840-45284696	ECC-1	luminal epithelium:	n/a	n/a
2	MXI1	chr21:45283199-45286803	SK-N-SH	brain:	n/a	n/a
3	ZNF384	chr21:45283811-45283943	GM12878	blood:	n/a	n/a
4	POLR2A	chr21:45283396-45283878	GM12878	blood:	n/a	n/a
5	POLR2A	chr21:45283807-45283992	K562	blood:	n/a	n/a
6	ZNF384	chr21:45283838-45284393	K562	blood:	n/a	n/a
7	ZEB1	chr21:45283872-45284671	HepG2	liver:	n/a	n/a
8	POLR2A	chr21:45283193-45284473	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45282912..45284880-chr21:45350407..45353939,3	K562	blood:
2	chr21:45283298..45287513-chr21:45338855..45343382,5	K562	blood:
3	chr21:45283616..45286882-chr21:45299913..45305661,6	MCF-7	breast:
4	chr21:45281617..45284138-chr21:45284201..45287466,4	MCF-7	breast:
5	chr21:45282036..45289054-chr21:45334704..45338842,9	K562	blood:
6	chr21:45282600..45286741-chr21:45429139..45433009,5	MCF-7	breast:
7	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
8	chr21:45228592..45232844-chr21:45283509..45286625,5	MCF-7	breast:
9	chr21:45283663..45287678-chr21:45338795..45345768,12	K562	blood:
10	chr21:45240125..45242679-chr21:45283332..45285060,2	MCF-7	breast:
11	chr21:45283737..45286588-chr21:45430466..45433524,3	K562	blood:
12	chr21:45282912..45284880-chr21:45350407..45352499,2	K562	blood:
13	chr21:45282965..45285916-chr21:45430237..45433854,8	MCF-7	breast:

No data

Variant related genes	Relation type
AGPAT3	TF binding region
ENSG00000160218	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000199598	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
5	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv3538	chr21:45267674-45297159	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3389400	chr21:45283349-45286397	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv3438548	chr21:45283674-45286522	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45275000-45284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:45279400-45284000	Weak transcription	Right Ventricle	heart
3	chr21:45280400-45284000	Weak transcription	Colon Smooth Muscle	Colon
4	chr21:45280600-45284000	Weak transcription	Fetal Lung	lung
5	chr21:45280800-45284000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:45280800-45284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:45280800-45284000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr21:45280800-45284000	Weak transcription	Small Intestine	intestine
9	chr21:45280800-45284000	Weak transcription	A549	lung
10	chr21:45280800-45284000	Weak transcription	NHEK	skin
11	chr21:45280800-45284000	Weak transcription	NHLF	lung
12	chr21:45280800-45284200	Weak transcription	Brain Substantia Nigra	brain
13	chr21:45281000-45284000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr21:45281000-45284000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr21:45281000-45284000	Weak transcription	Spleen	Spleen
16	chr21:45281000-45284200	Weak transcription	Gastric	stomach
17	chr21:45281200-45284000	Weak transcription	Ovary	ovary
18	chr21:45281200-45284000	Weak transcription	Psoas Muscle	Psoas
19	chr21:45281600-45284000	Weak transcription	Left Ventricle	heart
20	chr21:45281600-45284200	Weak transcription	Lung	lung
21	chr21:45281800-45284000	Weak transcription	Adipose Nuclei	Adipose
22	chr21:45281800-45284000	Weak transcription	Colonic Mucosa	Colon
23	chr21:45281800-45284000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr21:45282000-45284000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr21:45282000-45284000	Weak transcription	Stomach Mucosa	stomach
26	chr21:45282000-45284200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr21:45282000-45284200	Weak transcription	Pancreas	Pancrea
28	chr21:45283400-45284000	Enhancers	Primary B cells from cord blood	blood
29	chr21:45283400-45284000	Enhancers	Primary B cells from peripheral blood	blood
30	chr21:45283400-45284000	Enhancers	Primary hematopoietic stem cells	blood
31	chr21:45283400-45284000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr21:45283400-45284000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr21:45283400-45284000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr21:45283400-45284000	Enhancers	Brain Anterior Caudate	brain
35	chr21:45283400-45284000	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr21:45283400-45284000	Enhancers	K562	blood
37	chr21:45283400-45284200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr21:45283400-45284200	Flanking Active TSS	GM12878-XiMat	blood
39	chr21:45283400-45284400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr21:45283400-45285600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr21:45283600-45284000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr21:45283600-45284000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr21:45283600-45284000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr21:45283600-45284000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr21:45283600-45284000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr21:45283600-45284000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr21:45283600-45284000	Weak transcription	Esophagus	oesophagus
48	chr21:45283600-45284000	Enhancers	Fetal Intestine Large	intestine
49	chr21:45283600-45284000	Enhancers	Fetal Muscle Leg	muscle
50	chr21:45283600-45284000	Enhancers	Fetal Thymus	thymus

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