Variant report

Variant	rs200918083
Chromosome Location	chr21:46295675-46295676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:46295162-46295718	MCF-7	breast:	n/a	n/a
2	POLR2A	chr21:46291683-46295709	HUVEC	blood vessel:	n/a	n/a
3	MYC	chr21:46295302-46295713	MCF10A-Er-Src	breast:	n/a	n/a
4	JUND	chr21:46295136-46295683	K562	blood:	n/a	n/a
5	FOS	chr21:46295308-46295713	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr21:46295288-46295751	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr21:46295115-46295702	GM12878	blood:	n/a	n/a
8	MXI1	chr21:46294712-46295803	GM12878	blood:	n/a	n/a
9	CHD1	chr21:46294887-46295832	GM12878	blood:	n/a	n/a
10	CTCF	chr21:46295197-46295786	MCF-7	breast:	n/a	n/a
11	RAD21	chr21:46295153-46295681	MCF-7	breast:	n/a	n/a
12	RAD21	chr21:46295286-46295680	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr21:46295295-46295683	GM12878	blood:	n/a	n/a
14	GABPA	chr21:46294392-46295782	MCF-7	breast:	n/a	n/a
15	GATA1	chr21:46293630-46295835	PBDE	blood:	n/a	chr21:46293756-46293766 chr21:46294583-46294594
16	RAD21	chr21:46295221-46295708	MCF-7	breast:	n/a	n/a
17	POLR2A	chr21:46295360-46295710	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46229150..46231758-chr21:46294546..46297296,2	MCF-7	breast:
2	chr21:46231802..46234012-chr21:46295564..46298055,2	K562	blood:
3	chr21:46271436..46274134-chr21:46295574..46298347,2	K562	blood:
4	chr21:46232702..46239829-chr21:46289967..46296620,21	MCF-7	breast:
5	chr21:46288744..46296879-chr21:46346201..46354260,26	MCF-7	breast:
6	chr21:46291916..46297365-chr21:46358001..46363812,14	MCF-7	breast:
7	chr21:46292072..46295985-chr21:46328607..46334685,5	MCF-7	breast:
8	chr21:46220083..46220610-chr21:46295309..46295835,2	MCF-7	breast:
9	chr21:46295409..46298827-chr21:46311338..46314521,3	K562	blood:
10	chr21:46234037..46237833-chr21:46295592..46298389,4	K562	blood:
11	chr21:46294976..46295889-chr8:63408636..63409252,2	MCF-7	breast:
12	chr21:46217105..46224485-chr21:46287607..46297526,26	MCF-7	breast:
13	chr21:46191657..46194151-chr21:46295408..46297409,2	MCF-7	breast:
14	chr21:46218558..46223428-chr21:46289542..46296056,15	MCF-7	breast:
15	chr21:46265590..46266360-chr21:46294954..46295944,5	MCF-7	breast:

No data

Variant related genes	Relation type
PTTG1IP	TF binding region
ENSG00000236519	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000184787	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:83 , 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	chr21:46294000-46295800	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr21:46294000-46295800	Flanking Active TSS	Liver	Liver
4	chr21:46294000-46296000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
5	chr21:46294000-46296000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr21:46294000-46296000	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr21:46294000-46296000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr21:46294000-46296000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr21:46294000-46296000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:46294000-46296000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr21:46294200-46295800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:46294200-46296000	Enhancers	Fetal Heart	heart
13	chr21:46294400-46296000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr21:46294400-46298600	Weak transcription	Small Intestine	intestine
15	chr21:46294600-46295800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr21:46294600-46296000	Flanking Active TSS	GM12878-XiMat	blood
17	chr21:46294800-46298200	Weak transcription	Spleen	Spleen
18	chr21:46294800-46300600	Weak transcription	Fetal Kidney	kidney
19	chr21:46295200-46295800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:46295200-46295800	Bivalent Enhancer	Brain Germinal Matrix	brain
21	chr21:46295200-46296000	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr21:46295200-46299600	Weak transcription	Brain Substantia Nigra	brain
23	chr21:46295200-46300200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:46295200-46301200	Weak transcription	Pancreas	Pancrea
25	chr21:46295200-46301400	Weak transcription	Lung	lung
26	chr21:46295200-46302600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:46295200-46304200	Weak transcription	Esophagus	oesophagus
28	chr21:46295400-46295800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:46295400-46295800	Flanking Active TSS	Thymus	Thymus
30	chr21:46295400-46296000	Enhancers	Primary B cells from peripheral blood	blood
31	chr21:46295400-46296000	Enhancers	Colon Smooth Muscle	Colon
32	chr21:46295400-46296000	Enhancers	Placenta	Placenta
33	chr21:46295400-46296000	Enhancers	Rectal Smooth Muscle	rectum
34	chr21:46295400-46296000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr21:46295400-46296000	Enhancers	HMEC	breast
36	chr21:46295400-46296000	Flanking Active TSS	HSMM	muscle
37	chr21:46295400-46296000	Enhancers	K562	blood
38	chr21:46295400-46298400	Enhancers	HepG2	liver
39	chr21:46295400-46300600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr21:46295600-46295800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr21:46295600-46295800	Enhancers	Primary T cells from cord blood	blood
42	chr21:46295600-46295800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr21:46295600-46295800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr21:46295600-46295800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr21:46295600-46295800	Enhancers	Brain Anterior Caudate	brain
46	chr21:46295600-46296000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr21:46295600-46296000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr21:46295600-46296000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr21:46295600-46296000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr21:46295600-46296000	Enhancers	Primary T helper cells fromperipheralblood	blood

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