Variant report

Variant	rs533849017
Chromosome Location	chr21:17101628-17101629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr21:17101542-17101897	MCF10A-Er-Src	breast:	n/a	n/a
2	SIN3AK20	chr21:17101590-17102682	MCF-7	breast:	n/a	n/a
3	ARID3A	chr21:17101358-17101664	K562	blood:	n/a	n/a
4	STAT3	chr21:17101599-17101924	MCF10A-Er-Src	breast:	n/a	chr21:17101839-17101853 chr21:17101839-17101847 chr21:17101765-17101776
5	ZNF263	chr21:17101558-17104298	HEK293-T-REx	kidney:	n/a	chr21:17102283-17102292 chr21:17102862-17102871
6	SMC3	chr21:17101434-17103257	Hela-S3	cervix:	n/a	chr21:17102880-17102890
7	MAFK	chr21:17101624-17102033	K562	blood:	n/a	n/a
8	SRF	chr21:17101253-17102125	ECC-1	luminal epithelium:	n/a	chr21:17101502-17101513 chr21:17101501-17101514 chr21:17101498-17101516 chr21:17101499-17101516 chr21:17101500-17101515
9	POLR2A	chr21:17101269-17104930	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr21:17101456-17104769	MCF10A-Er-Src	breast:	n/a	n/a
11	ZNF143	chr21:17101512-17101775	K562	blood:	n/a	n/a
12	STAT3	chr21:17101539-17101921	MCF10A-Er-Src	breast:	n/a	chr21:17101839-17101853 chr21:17101839-17101847 chr21:17101765-17101776
13	FOS	chr21:17101528-17101932	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr21:17101455-17102629	MCF10A-Er-Src	breast:	n/a	chr21:17102088-17102102
15	POLR2A	chr21:17101407-17103188	PBDE	blood:	n/a	n/a
16	STAT3	chr21:17101304-17101928	MCF10A-Er-Src	breast:	n/a	chr21:17101839-17101853 chr21:17101839-17101847 chr21:17101765-17101776
17	MYC	chr21:17101490-17104354	K562	blood:	n/a	chr21:17104164-17104174 chr21:17104163-17104178 chr21:17104163-17104173
18	CEBPB	chr21:17101488-17102650	Hela-S3	cervix:	n/a	chr21:17101548-17101559
19	STAT3	chr21:17101368-17101978	MCF10A-Er-Src	breast:	n/a	chr21:17101839-17101853 chr21:17101839-17101847 chr21:17101765-17101776
20	MAX	chr21:17101530-17103127	Hela-S3	cervix:	n/a	n/a
21	RCOR1	chr21:17101490-17102492	K562	blood:	n/a	n/a
22	TBP	chr21:17101470-17102048	Hela-S3	cervix:	n/a	n/a
23	STAT3	chr21:17101604-17101953	MCF10A-Er-Src	breast:	n/a	chr21:17101839-17101853 chr21:17101839-17101847 chr21:17101765-17101776
24	POLR2A	chr21:17101617-17102754	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr21:17101607-17103491	H1-hESC	embryonic stem cell:	n/a	n/a
26	MXI1	chr21:17101374-17104707	SK-N-SH	brain:	n/a	n/a
27	MYC	chr21:17101352-17102591	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:17101236..17104015-chr21:17196099..17198458,3	MCF-7	breast:
2	chr21:17099652..17105374-chr21:17196149..17200245,6	MCF-7	breast:
3	chr21:17064915..17067118-chr21:17101217..17104804,3	MCF-7	breast:
4	chr21:17079550..17081634-chr21:17101174..17103507,3	MCF-7	breast:

Variant related genes	Relation type
USP25	TF binding region
ENSG00000221497	Chromatin interaction
ENSG00000155313	Chromatin interaction
ENSG00000238591	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv2830057	chr21:16960590-17113148	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	esv3323481	chr21:17101106-17103654	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
10	esv3429322	chr21:17101431-17103829	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17096800-17101800	Weak transcription	Placenta	Placenta
2	chr21:17101200-17101800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr21:17101400-17101800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr21:17101400-17101800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
5	chr21:17101400-17101800	Active TSS	Primary hematopoietic stem cells	blood
6	chr21:17101400-17101800	Flanking Active TSS	Fetal Heart	heart
7	chr21:17101400-17101800	Flanking Active TSS	Fetal Kidney	kidney
8	chr21:17101400-17101800	Enhancers	Fetal Muscle Leg	muscle
9	chr21:17101400-17101800	Flanking Active TSS	A549	lung
10	chr21:17101400-17101800	Flanking Active TSS	Hela-S3	cervix
11	chr21:17101400-17101800	Enhancers	HMEC	breast
12	chr21:17101400-17102000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:17101400-17102000	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr21:17101400-17102800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr21:17101400-17103400	Active TSS	Duodenum Mucosa	Duodenum
16	chr21:17101400-17103600	Active TSS	Brain Cingulate Gyrus	brain
17	chr21:17101400-17104000	Active TSS	Brain Anterior Caudate	brain
18	chr21:17101400-17104000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr21:17101600-17101800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:17101600-17101800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr21:17101600-17101800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr21:17101600-17101800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:17101600-17101800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:17101600-17101800	Active TSS	Primary T cells fromperipheralblood	blood
25	chr21:17101600-17101800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr21:17101600-17101800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr21:17101600-17101800	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr21:17101600-17101800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr21:17101600-17101800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr21:17101600-17101800	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr21:17101600-17101800	Active TSS	Stomach Mucosa	stomach
32	chr21:17101600-17101800	Bivalent/Poised TSS	GM12878-XiMat	blood
33	chr21:17101600-17101800	Bivalent/Poised TSS	Osteobl	bone
34	chr21:17101600-17102000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr21:17101600-17102000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr21:17101600-17102000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr21:17101600-17102000	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr21:17101600-17102000	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr21:17101600-17102000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr21:17101600-17102000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr21:17101600-17102000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr21:17101600-17102000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr21:17101600-17102000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr21:17101600-17102000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr21:17101600-17102000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr21:17101600-17102000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr21:17101600-17102000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr21:17101600-17102000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr21:17101600-17102000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr21:17101600-17102000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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