Variant report

Variant	rs550028989
Chromosome Location	chr21:46295469-46295470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:134)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:134 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:46295386-46295602	HUVEC	blood vessel:	n/a	n/a
2	RAD21	chr21:46295329-46295541	K562	blood:	n/a	n/a
3	CTCF	chr21:46295340-46295490	HVMF	connective:	n/a	n/a
4	CTCF	chr21:46295440-46295590	GM12872	blood:	n/a	n/a
5	POLR2A	chr21:46291742-46295578	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr21:46295162-46295718	MCF-7	breast:	n/a	n/a
7	SMC3	chr21:46294887-46295642	GM12878	blood:	n/a	n/a
8	CTCF	chr21:46295437-46295514	Fibrobl	skin:	n/a	n/a
9	CTCF	chr21:46295400-46295550	AG09309	skin:	n/a	n/a
10	CTCF	chr21:46295380-46295530	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr21:46295460-46295610	RPTEC	kidney:	n/a	n/a
12	POLR2A	chr21:46291683-46295709	HUVEC	blood vessel:	n/a	n/a
13	STAT5A	chr21:46293886-46295635	GM12878	blood:	n/a	n/a
14	CTCF	chr21:46295400-46295550	BJ	skin:	n/a	n/a
15	SMC3	chr21:46295183-46295662	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr21:46295360-46295510	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr21:46295360-46295510	HAc	cerebellar:	n/a	n/a
18	CTCF	chr21:46295441-46295586	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr21:46295360-46295510	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr21:46295360-46295510	GM12873	blood:	n/a	n/a
21	RELA	chr21:46294802-46295636	GM19099	blood:	n/a	n/a
22	CTCF	chr21:46295452-46295560	GM10266	blood:	n/a	n/a
23	CTCF	chr21:46295380-46295530	GM06990	blood:	n/a	n/a
24	POLR2A	chr21:46293100-46295496	GM18951	blood:	n/a	n/a
25	CTCF	chr21:46295440-46295590	AG09319	gingival:	n/a	n/a
26	CTCF	chr21:46295380-46295530	GM12864	blood:	n/a	n/a
27	RELA	chr21:46293438-46295667	GM18951	blood:	n/a	n/a
28	CTCF	chr21:46295440-46295590	AG04449	skin:	n/a	n/a
29	MYC	chr21:46295302-46295713	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr21:46295341-46295624	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr21:46293191-46295470	GM12892	blood:	n/a	n/a
32	JUND	chr21:46295136-46295683	K562	blood:	n/a	n/a
33	CTCF	chr21:46295460-46295610	AG10803	skin:	n/a	n/a
34	CTCF	chr21:46295420-46295570	AG09309	skin:	n/a	n/a
35	CTCF	chr21:46295440-46295590	NHDF-neo	bronchial:	n/a	n/a
36	ZNF143	chr21:46295135-46295664	GM12878	blood:	n/a	n/a
37	FOS	chr21:46295308-46295713	MCF10A-Er-Src	breast:	n/a	n/a
38	CTCF	chr21:46295460-46295610	MCF-7	breast:	n/a	n/a
39	CTCF	chr21:46295360-46295510	HRPEpiC	eye:	n/a	n/a
40	POLR2A	chr21:46293385-46295571	GM12878	blood:	n/a	n/a
41	POLR2A	chr21:46293349-46295570	GM18526	blood:	n/a	n/a
42	MAZ	chr21:46295405-46295614	K562	blood:	n/a	n/a
43	EBF1	chr21:46295269-46295585	GM12878	blood:	n/a	n/a
44	STAT3	chr21:46295288-46295751	MCF10A-Er-Src	breast:	n/a	n/a
45	MAX	chr21:46293352-46295474	GM12878	blood:	n/a	chr21:46293675-46293685
46	CTCF	chr21:46295420-46295570	AG04449	skin:	n/a	n/a
47	CTCF	chr21:46295460-46295610	NB4	blood:	n/a	n/a
48	CTCF	chr21:46295360-46295510	HVMF	connective:	n/a	n/a
49	CTCF	chr21:46295320-46295470	BJ	skin:	n/a	n/a
50	CTCF	chr21:46295380-46295530	HMF	breast:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46231216..46239677-chr21:46289090..46295542,14	K562	blood:
2	chr21:46229150..46231758-chr21:46294546..46297296,2	MCF-7	breast:
3	chr21:46232702..46239829-chr21:46289967..46296620,21	MCF-7	breast:
4	chr21:46288744..46296879-chr21:46346201..46354260,26	MCF-7	breast:
5	chr21:46291916..46297365-chr21:46358001..46363812,14	MCF-7	breast:
6	chr21:46292072..46295985-chr21:46328607..46334685,5	MCF-7	breast:
7	chr21:46220083..46220610-chr21:46295309..46295835,2	MCF-7	breast:
8	chr21:46295409..46298827-chr21:46311338..46314521,3	K562	blood:
9	chr21:46294976..46295889-chr8:63408636..63409252,2	MCF-7	breast:
10	chr21:46217105..46224485-chr21:46287607..46297526,26	MCF-7	breast:
11	chr21:46294020..46295642-chr21:47310587..47313582,2	K562	blood:
12	chr21:46231789..46243695-chr21:46286819..46295664,23	MCF-7	breast:
13	chr21:46235517..46239255-chr21:46289829..46295572,6	K562	blood:
14	chr21:46293215..46295653-chr21:46346335..46349274,2	K562	blood:
15	chr21:46191657..46194151-chr21:46295408..46297409,2	MCF-7	breast:
16	chr21:46218558..46223428-chr21:46289542..46296056,15	MCF-7	breast:
17	chr21:46265590..46266360-chr21:46294954..46295944,5	MCF-7	breast:

No data

Variant related genes	Relation type
PTTG1IP	TF binding region
ENSG00000184787	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000160255	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer 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	33 gene(s)	inside rSNPs	diseases
5	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv913968	chr21:46249752-46301008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers 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 miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1060233	chr21:46254075-46323401	Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv544479	chr21:46280467-46323401	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	nsv470907	chr21:46283669-46306161	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Weak transcription 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	18 gene(s)	inside rSNPs	diseases
14	nsv459299	chr21:46283669-46311264	Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv459300	chr21:46283669-46311264	Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv587814	chr21:46283669-46311264	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	esv3323927	chr21:46295348-46295944	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46289800-46296000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr21:46294000-46295600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr21:46294000-46295600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr21:46294000-46295600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr21:46294000-46295600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr21:46294000-46295600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr21:46294000-46295600	Flanking Active TSS	Fetal Thymus	thymus
8	chr21:46294000-46295600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr21:46294000-46295600	Flanking Bivalent TSS/Enh	Dnd41	blood
10	chr21:46294000-46295600	Flanking Active TSS	HUVEC	blood vessel
11	chr21:46294000-46295800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr21:46294000-46295800	Flanking Active TSS	Liver	Liver
13	chr21:46294000-46296000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr21:46294000-46296000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr21:46294000-46296000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr21:46294000-46296000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr21:46294000-46296000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:46294000-46296000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:46294000-46296000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr21:46294200-46295600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr21:46294200-46295600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr21:46294200-46295600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr21:46294200-46295600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr21:46294200-46295600	Flanking Active TSS	Osteobl	bone
25	chr21:46294200-46295800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr21:46294200-46296000	Enhancers	Fetal Heart	heart
27	chr21:46294400-46295600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr21:46294400-46295600	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr21:46294400-46296000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr21:46294400-46298600	Weak transcription	Small Intestine	intestine
31	chr21:46294600-46295600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr21:46294600-46295600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr21:46294600-46295600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr21:46294600-46295600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr21:46294600-46295600	Flanking Active TSS	Stomach Mucosa	stomach
36	chr21:46294600-46295600	Enhancers	A549	lung
37	chr21:46294600-46295600	Flanking Active TSS	Hela-S3	cervix
38	chr21:46294600-46295800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr21:46294600-46296000	Flanking Active TSS	GM12878-XiMat	blood
40	chr21:46294800-46295600	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr21:46294800-46295600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr21:46294800-46295600	Bivalent Enhancer	Fetal Lung	lung
43	chr21:46294800-46295600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr21:46294800-46295600	Flanking Active TSS	HSMMtube	muscle
45	chr21:46294800-46298200	Weak transcription	Spleen	Spleen
46	chr21:46294800-46300600	Weak transcription	Fetal Kidney	kidney
47	chr21:46295000-46295600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
48	chr21:46295000-46295600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr21:46295000-46295600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr21:46295000-46295600	Enhancers	Sigmoid Colon	Sigmoid Colon

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