Variant report

Variant	rs530672568
Chromosome Location	chr21:45628948-45628949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:45628920-45629070	GM06990	blood:	n/a	chr21:45629043-45629056
2	POLR2A	chr21:45625863-45629217	GM12878	blood:	n/a	n/a
3	POLR2A	chr21:45625793-45629546	PFSK-1	brain:	n/a	n/a
4	MAX	chr21:45627483-45629071	NB4	blood:	n/a	n/a
5	EBF1	chr21:45626545-45629017	GM12878	blood:	n/a	chr21:45627861-45627870
6	ZEB1	chr21:45627939-45629264	GM12878	blood:	n/a	n/a
7	POLR2A	chr21:45625968-45629043	GM12892	blood:	n/a	n/a
8	CTCF	chr21:45628895-45629040	GM19239	blood:	n/a	n/a
9	MTA3	chr21:45625931-45629275	GM12878	blood:	n/a	n/a
10	RCOR1	chr21:45625863-45629035	IMR90	lung:	n/a	n/a
11	POLR2A	chr21:45628897-45629006	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:45621014..45624737-chr21:45625090..45629806,7	K562	blood:
2	chr21:45621014..45626357-chr21:45626432..45630019,5	K562	blood:
3	chr21:45625593..45629065-chr21:45717787..45720760,5	MCF-7	breast:
4	chr21:45555886..45558409-chr21:45626511..45629056,2	MCF-7	breast:
5	chr21:45590531..45598113-chr21:45625237..45630055,9	MCF-7	breast:
6	chr21:45619816..45631884-chr21:45656529..45663802,30	MCF-7	breast:
7	chr21:45620311..45631567-chr21:45651002..45670824,52	MCF-7	breast:
8	chr21:45628810..45630554-chr21:45636671..45638693,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232698	TF binding region
ENSG00000160223	Chromatin interaction
ENSG00000232010	Chromatin interaction
ENSG00000267913	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000237604	Chromatin interaction
ENSG00000232124	Chromatin interaction
ENSG00000160221	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
9	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
10	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
11	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
12	nsv913900	chr21:45577102-45640139	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv913901	chr21:45615741-45665330	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv913902	chr21:45615741-45709153	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	esv1798512	chr21:45619474-45629565	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	esv1834007	chr21:45619474-45629565	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv518543	chr21:45627976-45630608	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
18	nsv470906	chr21:45627976-45661343	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv587739	chr21:45628374-45640629	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45622800-45629800	Enhancers	Placenta	Placenta
2	chr21:45623000-45629400	Enhancers	K562	blood
3	chr21:45623000-45629800	Enhancers	Fetal Muscle Leg	muscle
4	chr21:45624600-45629200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:45625200-45629600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr21:45625400-45629000	Enhancers	Fetal Thymus	thymus
7	chr21:45625400-45629400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr21:45625400-45630200	Enhancers	Primary hematopoietic stem cells	blood
9	chr21:45625800-45629200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr21:45625800-45629600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:45626000-45629000	Enhancers	Adipose Nuclei	Adipose
12	chr21:45626000-45629000	Flanking Active TSS	GM12878-XiMat	blood
13	chr21:45626000-45629200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
14	chr21:45626000-45629400	Enhancers	Esophagus	oesophagus
15	chr21:45626200-45629000	Enhancers	Right Ventricle	heart
16	chr21:45626200-45629000	Enhancers	NHEK	skin
17	chr21:45626600-45629800	Enhancers	HUVEC	blood vessel
18	chr21:45626800-45629000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:45626800-45629000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:45626800-45629200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr21:45626800-45630600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr21:45627000-45629000	Enhancers	Brain Substantia Nigra	brain
23	chr21:45627000-45629000	Enhancers	HMEC	breast
24	chr21:45627000-45629200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr21:45627000-45629200	Enhancers	Stomach Mucosa	stomach
26	chr21:45627000-45629800	Enhancers	Brain Hippocampus Middle	brain
27	chr21:45627200-45629000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr21:45627200-45631000	Enhancers	Primary B cells from cord blood	blood
29	chr21:45627400-45629000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr21:45627400-45629000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr21:45627400-45629000	Enhancers	NHDF-Ad	bronchial
32	chr21:45627400-45629600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr21:45627400-45629600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr21:45627600-45629600	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr21:45627600-45631600	Weak transcription	Gastric	stomach
36	chr21:45627800-45629600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr21:45627800-45636600	Enhancers	Primary B cells from peripheral blood	blood
38	chr21:45628000-45630600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr21:45628000-45631400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr21:45628200-45629400	Enhancers	Brain Cingulate Gyrus	brain
41	chr21:45628400-45629000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr21:45628400-45629000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
43	chr21:45628400-45629000	Enhancers	Hela-S3	cervix
44	chr21:45628400-45629200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr21:45628400-45629400	Enhancers	Brain Angular Gyrus	brain
46	chr21:45628400-45629400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr21:45628400-45629600	Weak transcription	Thymus	Thymus
48	chr21:45628400-45632400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr21:45628600-45629000	Enhancers	Fetal Heart	heart
50	chr21:45628600-45629200	Enhancers	Duodenum Mucosa	Duodenum

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