Variant report

Variant	rs561263183
Chromosome Location	chr21:47062524-47062525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr21:47062407-47062601	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF143	chr21:47062464-47062596	GM12878	blood:	n/a	n/a
3	MAZ	chr21:47062447-47063794	GM12878	blood:	n/a	chr21:47062467-47062477
4	POLR2A	chr21:47062197-47063005	MCF-7	breast:	n/a	n/a
5	MYC	chr21:47062488-47062691	MCF-7	breast:	n/a	n/a
6	BACH1	chr21:47062063-47063101	H1-hESC	embryonic stem cell:	n/a	n/a
7	HA-E2F1	chr21:47062328-47062651	MCF-7	breast:	n/a	chr21:47062609-47062619
8	ZNF143	chr21:47062389-47062535	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAZ	chr21:47062346-47064616	IMR90	lung:	n/a	chr21:47064383-47064390 chr21:47062467-47062477
10	POLR2A	chr21:47062215-47062938	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:46961035..46963239-chr21:47061163..47064234,4	MCF-7	breast:
2	chr21:47058472..47062802-chr21:47073375..47076804,3	MCF-7	breast:
3	chr21:47035998..47037896-chr21:47060266..47063425,3	MCF-7	breast:
4	chr21:47060499..47063225-chr21:47086755..47088271,2	MCF-7	breast:
5	chr21:47039810..47042625-chr21:47060618..47063331,3	MCF-7	breast:
6	chr21:47061104..47062756-chr21:47743383..47745371,2	MCF-7	breast:
7	chr21:47061926..47064777-chr21:47168199..47170677,2	MCF-7	breast:
8	chr21:47012314..47016239-chr21:47061189..47064828,5	K562	blood:

No data

Variant related genes	Relation type
PCBP3	TF binding region
ENSG00000173638	Chromatin interaction
ENSG00000160299	Chromatin interaction
ENSG00000183570	Chromatin interaction
ENSG00000233922	Chromatin interaction
ENSG00000160298	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1057807	chr21:46656346-47077374	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2762114	chr21:46680202-47067744	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
5	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
6	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
7	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
8	nsv914077	chr21:46998548-47091361	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
9	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
10	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
11	nsv587864	chr21:47053453-47070718	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS 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	5 gene(s)	inside rSNPs	n/a
12	esv3338089	chr21:47061324-47064672	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
13	esv3448839	chr21:47061324-47065322	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
14	esv3376015	chr21:47061349-47064897	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
15	esv3326927	chr21:47061524-47065022	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47056400-47063600	Weak transcription	K562	blood
2	chr21:47056600-47063600	Weak transcription	Pancreas	Pancrea
3	chr21:47060600-47062800	Enhancers	Primary T cells from cord blood	blood
4	chr21:47060800-47063600	Weak transcription	HSMMtube	muscle
5	chr21:47060800-47064200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr21:47061000-47062600	Enhancers	GM12878-XiMat	blood
7	chr21:47061200-47064200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr21:47061400-47062600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr21:47061400-47062800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr21:47061400-47062800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr21:47061400-47063600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr21:47061600-47063600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr21:47061600-47064000	Weak transcription	NHDF-Ad	bronchial
14	chr21:47061600-47064200	Active TSS	Thymus	Thymus
15	chr21:47061800-47062600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:47061800-47062800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr21:47061800-47063600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:47061800-47063800	Weak transcription	NHEK	skin
19	chr21:47061800-47064000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr21:47062000-47062600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr21:47062000-47062600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr21:47062000-47062600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr21:47062000-47062600	Active TSS	Small Intestine	intestine
24	chr21:47062000-47062800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr21:47062000-47062800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr21:47062000-47062800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:47062000-47064000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr21:47062000-47064200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr21:47062200-47062600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr21:47062200-47062600	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr21:47062200-47062600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr21:47062200-47062600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr21:47062200-47062600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr21:47062200-47062600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr21:47062200-47062600	Bivalent Enhancer	Brain Hippocampus Middle	brain
36	chr21:47062200-47062800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr21:47062200-47062800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr21:47062200-47062800	Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr21:47062200-47062800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr21:47062200-47062800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr21:47062200-47062800	Active TSS	Adipose Nuclei	Adipose
42	chr21:47062200-47063000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr21:47062200-47063000	Active TSS	Fetal Thymus	thymus
44	chr21:47062200-47063000	Bivalent/Poised TSS	Psoas Muscle	Psoas
45	chr21:47062200-47063600	Weak transcription	Gastric	stomach
46	chr21:47062200-47064600	Active TSS	Colonic Mucosa	Colon
47	chr21:47062400-47062600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr21:47062400-47062600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr21:47062400-47062600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr21:47062400-47062600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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