Variant report

Variant	rs17182559
Chromosome Location	chr21:47703952-47703953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:47703351-47704752	MCF10A-Er-Src	breast:	n/a	n/a
2	REST	chr21:47703943-47704290	PFSK-1	brain:	n/a	n/a
3	USF2	chr21:47703536-47704228	Hela-S3	cervix:	n/a	chr21:47704073-47704084
4	MAX	chr21:47703902-47704277	NB4	blood:	n/a	chr21:47704074-47704084
5	POLR2A	chr21:47703505-47704432	K562	blood:	n/a	n/a
6	MYC	chr21:47703929-47704344	NB4	blood:	n/a	chr21:47704074-47704084
7	POLR2A	chr21:47703349-47705016	GM12878	blood:	n/a	n/a
8	GABPA	chr21:47703951-47704530	MCF-7	breast:	n/a	n/a
9	POLR2A	chr21:47703907-47704301	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr21:47703835-47704313	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr21:47703148-47705092	K562	blood:	n/a	n/a
12	ELF1	chr21:47703928-47704337	K562	blood:	n/a	chr21:47704144-47704157
13	MXI1	chr21:47703946-47704121	GM12878	blood:	n/a	n/a
14	SPI1	chr21:47703521-47704311	HL-60	blood:	n/a	n/a
15	CBX3	chr21:47703935-47704608	K562	blood:	n/a	n/a
16	MAX	chr21:47703887-47704440	K562	blood:	n/a	chr21:47704074-47704084
17	ZNF263	chr21:47703474-47704567	HEK293-T-REx	kidney:	n/a	n/a
18	SIN3AK20	chr21:47703907-47704261	PFSK-1	brain:	n/a	n/a
19	SETDB1	chr21:47703552-47704571	K562	blood:	n/a	n/a
20	SETDB1	chr21:47703459-47705434	K562	blood:	n/a	n/a
21	POLR2A	chr21:47703121-47704218	MCF10A-Er-Src	breast:	n/a	n/a
22	TBL1XR1	chr21:47703883-47704083	GM12878	blood:	n/a	n/a
23	POLR2A	chr21:47703547-47703980	K562	blood:	n/a	n/a
24	KAP1	chr21:47703830-47705741	K562	blood:	n/a	n/a
25	POLR2A	chr21:47703548-47707412	GM12891	blood:	n/a	n/a
26	POLR2A	chr21:47703943-47704532	HepG2	liver:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47703549..47712907-chr21:47732716..47739888,14	MCF-7	breast:
2	chr21:47677887..47680451-chr21:47703023..47707250,4	MCF-7	breast:
3	chr21:47672120..47673893-chr21:47703850..47705780,2	K562	blood:
4	chr21:47688197..47694019-chr21:47702332..47707246,9	MCF-7	breast:
5	chr21:47645527..47650637-chr21:47703398..47707562,6	MCF-7	breast:
6	chr21:47702524..47712328-chr21:47732975..47746274,46	K562	blood:
7	chr21:47702151..47710134-chr21:47741079..47747645,22	MCF-7	breast:
8	chr21:47700722..47725192-chr21:47732201..47746452,77	K562	blood:
9	chr21:47703226..47704879-chr21:47705163..47707083,2	MCF-7	breast:
10	chr21:47672719..47675085-chr21:47703524..47706012,2	MCF-7	breast:
11	chr21:47563273..47566010-chr21:47702390..47704290,2	MCF-7	breast:
12	chr21:47681971..47687315-chr21:47701766..47706280,5	K562	blood:
13	chr14:91580792..91581437-chr21:47703611..47704302,2	NB4	blood:
14	chr21:47701944..47708797-chr21:47740125..47746082,20	MCF-7	breast:

No data

Variant related genes	Relation type
YBEY	TF binding region
ENSG00000215424	Chromatin interaction
ENSG00000239415	Chromatin interaction
ENSG00000160282	Chromatin interaction
ENSG00000160285	Chromatin interaction
ENSG00000182362	Chromatin interaction
ENSG00000133943	Chromatin interaction
ENSG00000160299	Chromatin interaction
ENSG00000160294	Chromatin interaction
ENSG00000160298	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2298694	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2839148	0.81[EUR][1000 genomes]
rs2839185	0.85[ASN][1000 genomes]
rs7510515	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
6	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
7	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
8	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
9	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
10	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
11	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
12	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
13	nsv1060978	chr21:47488073-47833640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	n/a
14	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
15	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
16	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
17	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
18	nsv933354	chr21:47609029-47851401	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
19	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
20	nsv914134	chr21:47632995-47712185	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	n/a
21	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
22	nsv587975	chr21:47661235-47830843	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a
23	nsv432159	chr21:47673247-47854392	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a
24	nsv527355	chr21:47678774-47863025	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
25	nsv914135	chr21:47681041-47762374	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
26	nsv914136	chr21:47681041-47900994	Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	n/a
27	nsv1064588	chr21:47700051-47788823	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
28	nsv544496	chr21:47700051-47788823	Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
29	nsv914137	chr21:47700498-47862624	Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
30	nsv914138	chr21:47700498-47866227	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47650000-47705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:47700200-47705000	Genic enhancers	Primary T cells fromperipheralblood	blood
3	chr21:47700600-47704400	Genic enhancers	Brain Germinal Matrix	brain
4	chr21:47701000-47705000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr21:47701000-47705200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr21:47701200-47704200	Genic enhancers	Rectal Smooth Muscle	rectum
7	chr21:47701200-47705000	Genic enhancers	Primary T cells from cord blood	blood
8	chr21:47701400-47704200	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr21:47701400-47704400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr21:47701400-47704600	Genic enhancers	Lung	lung
11	chr21:47701400-47705000	Genic enhancers	Fetal Muscle Leg	muscle
12	chr21:47701400-47705200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr21:47701600-47705000	Genic enhancers	Fetal Stomach	stomach
14	chr21:47701800-47704400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:47701800-47704600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr21:47701800-47704800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr21:47702400-47704400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr21:47702400-47705000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr21:47702400-47705000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:47702600-47704400	Genic enhancers	Fetal Muscle Trunk	muscle
21	chr21:47702600-47705000	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr21:47702800-47704200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:47702800-47704200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr21:47702800-47705000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
25	chr21:47703000-47704000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
26	chr21:47703000-47704000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr21:47703000-47704000	Transcr. at gene 5' and 3'	NH-A	brain
28	chr21:47703000-47704400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr21:47703000-47704400	Genic enhancers	Colonic Mucosa	Colon
30	chr21:47703000-47704400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
31	chr21:47703000-47704600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr21:47703000-47704600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
33	chr21:47703000-47704600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr21:47703000-47704800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
35	chr21:47703000-47704800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr21:47703000-47704800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
37	chr21:47703000-47704800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr21:47703000-47704800	Genic enhancers	Placenta	Placenta
39	chr21:47703000-47705000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr21:47703000-47705000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr21:47703000-47705200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
42	chr21:47703000-47705200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr21:47703000-47705200	Genic enhancers	Left Ventricle	heart
44	chr21:47703000-47705200	Transcr. at gene 5' and 3'	Dnd41	blood
45	chr21:47703200-47704000	Genic enhancers	Primary B cells from cord blood	blood
46	chr21:47703200-47704000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr21:47703200-47704000	Genic enhancers	HMEC	breast
48	chr21:47703200-47704200	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr21:47703200-47704200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
50	chr21:47703200-47704400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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