Variant report

Variant	rs565457507
Chromosome Location	chr21:47875875-47875876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZC3H11A	chr21:47875626-47876155	K562	blood:	n/a	n/a
2	RXRA	chr21:47875284-47876228	SK-N-SH	brain:	n/a	n/a
3	RCOR1	chr21:47875506-47876136	K562	blood:	n/a	n/a
4	POLR2A	chr21:47875376-47879258	SK-N-MC	brain:	n/a	n/a
5	HDAC2	chr21:47875581-47876012	K562	blood:	n/a	n/a
6	MXI1	chr21:47875661-47876031	K562	blood:	n/a	n/a
7	JUND	chr21:47875537-47876177	K562	blood:	n/a	n/a
8	POLR2A	chr21:47873935-47876254	K562	blood:	n/a	n/a
9	PML	chr21:47875188-47876042	K562	blood:	n/a	n/a
10	MAFF	chr21:47875791-47876310	K562	blood:	n/a	n/a
11	MYC	chr21:47875682-47876139	K562	blood:	n/a	n/a
12	CEBPB	chr21:47875773-47876157	K562	blood:	n/a	n/a
13	PBX3	chr21:47875282-47876104	SK-N-SH	brain:	n/a	n/a
14	PML	chr21:47875480-47876124	K562	blood:	n/a	n/a
15	EP300	chr21:47875249-47876072	K562	blood:	n/a	n/a
16	BACH1	chr21:47875628-47875999	K562	blood:	n/a	n/a
17	POLR2A	chr21:47875527-47876162	K562	blood:	n/a	n/a
18	TAL1	chr21:47875527-47876189	K562	blood:	n/a	n/a
19	MAFK	chr21:47875565-47876209	K562	blood:	n/a	n/a
20	NFIC	chr21:47875441-47875996	ECC-1	luminal epithelium:	n/a	n/a
21	GATA1	chr21:47875571-47875999	PBDEFetal	blood:	n/a	n/a
22	GABPA	chr21:47875624-47876040	K562	blood:	n/a	n/a
23	MAX	chr21:47875673-47875941	K562	blood:	n/a	n/a
24	NR2F2	chr21:47875455-47876128	K562	blood:	n/a	n/a
25	BHLHE40	chr21:47875586-47876148	K562	blood:	n/a	n/a
26	TRIM28	chr21:47875471-47876256	K562	blood:	n/a	n/a
27	MAX	chr21:47875595-47875997	K562	blood:	n/a	n/a
28	GTF2F1	chr21:47875664-47875891	K562	blood:	n/a	n/a
29	ELF1	chr21:47875581-47876167	K562	blood:	n/a	n/a
30	GATA3	chr21:47875264-47876163	SK-N-SH	brain:	n/a	n/a
31	JUND	chr21:47875264-47875978	SK-N-SH	brain:	n/a	n/a
32	CEBPD	chr21:47875564-47876176	K562	blood:	n/a	n/a
33	GATA2	chr21:47875575-47876212	K562	blood:	n/a	n/a
34	ARID3A	chr21:47875556-47876233	K562	blood:	n/a	n/a
35	POLR2A	chr21:47875594-47875915	ECC-1	luminal epithelium:	n/a	n/a
36	HDAC2	chr21:47875609-47876019	K562	blood:	n/a	n/a
37	SIN3AK20	chr21:47875473-47875958	SK-N-SH	brain:	n/a	n/a
38	CEBPD	chr21:47875486-47876176	K562	blood:	n/a	n/a
39	TBP	chr21:47875763-47875936	K562	blood:	n/a	n/a
40	IRF1	chr21:47875624-47876007	K562	blood:	n/a	n/a
41	FOS	chr21:47875089-47876007	HUVEC	blood vessel:	n/a	chr21:47875531-47875542
42	POLR2A	chr21:47875618-47875962	K562	blood:	n/a	n/a
43	CUX1	chr21:47875579-47876308	K562	blood:	n/a	n/a
44	CCNT2	chr21:47875605-47875988	K562	blood:	n/a	n/a
45	TCF12	chr21:47875302-47875982	SK-N-SH	brain:	n/a	n/a
46	TBL1XR1	chr21:47875575-47876354	K562	blood:	n/a	n/a
47	UBTF	chr21:47875691-47876032	K562	blood:	n/a	n/a
48	PBX3	chr21:47875394-47876030	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr21:47875624-47876019	K562	blood:	n/a	n/a
50	STAT5A	chr21:47875478-47876199	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:47703795..47706466-chr21:47875167..47877957,2	K562	blood:
2	chr21:47841235..47843966-chr21:47874444..47876872,2	K562	blood:
3	chr21:47875258..47880014-chr21:48054452..48058643,10	K562	blood:
4	chr21:47742824..47746367-chr21:47874951..47878920,7	K562	blood:
5	chr21:47647264..47651365-chr21:47875652..47880068,5	K562	blood:
6	chr21:47862357..47865195-chr21:47870982..47877612,5	K562	blood:
7	chr21:47647621..47651234-chr21:47875652..47881416,7	K562	blood:
8	chr21:47743331..47747569-chr21:47874488..47878501,6	K562	blood:
9	chr21:47766960..47769080-chr21:47874541..47876756,2	MCF-7	breast:
10	chr21:47843264..47847636-chr21:47874814..47878644,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf58-1	chr21:47871407-47878519	NONHSAT083070

No data

Variant related genes	Relation type
DIP2A	TF binding region
ENSG00000160299	Chromatin interaction
ENSG00000160285	Chromatin interaction
ENSG00000160310	Chromatin interaction
ENSG00000160294	Chromatin interaction
ENSG00000182362	Chromatin interaction
ENSG00000215424	Chromatin interaction
ENSG00000160298	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv933061	chr21:47746204-48031515	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
19	nsv1062858	chr21:47750884-48091343	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
20	nsv587995	chr21:47803949-47877594	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
21	nsv1056321	chr21:47835146-47973412	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
22	nsv917208	chr21:47836346-47988603	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
23	nsv1058397	chr21:47851176-48091343	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers 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 miRNA target site	56 gene(s)	inside rSNPs	n/a
24	nsv459312	chr21:47856106-47985655	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
25	nsv587998	chr21:47856106-47985655	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
26	nsv1065502	chr21:47865215-48091343	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
27	nsv1056152	chr21:47875370-47979259	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
28	nsv1061442	chr21:47875370-48091343	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47845600-47877400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr21:47851000-47876000	Weak transcription	Small Intestine	intestine
3	chr21:47858400-47877400	Weak transcription	Stomach Mucosa	stomach
4	chr21:47862000-47876800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr21:47862400-47876200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr21:47863000-47877200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr21:47863200-47876600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr21:47863200-47877200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:47864600-47877800	Weak transcription	Aorta	Aorta
10	chr21:47865400-47876200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr21:47866000-47877200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr21:47866400-47876200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr21:47869800-47876400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr21:47870000-47877200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr21:47870200-47877200	Weak transcription	Brain Germinal Matrix	brain
16	chr21:47870200-47877400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:47870200-47877400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr21:47871400-47876200	Strong transcription	Primary T cells from cord blood	blood
19	chr21:47871800-47877200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr21:47872200-47876800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr21:47872400-47876600	Weak transcription	Primary B cells from cord blood	blood
22	chr21:47872800-47877200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:47873000-47877200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:47873200-47876800	Weak transcription	Ovary	ovary
25	chr21:47873200-47877000	Weak transcription	Fetal Brain Female	brain
26	chr21:47873400-47876200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr21:47873400-47877000	Weak transcription	Thymus	Thymus
28	chr21:47873400-47877400	Weak transcription	Fetal Kidney	kidney
29	chr21:47873600-47876200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr21:47873800-47876000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr21:47873800-47877400	Enhancers	Brain Substantia Nigra	brain
32	chr21:47874000-47876600	Strong transcription	A549	lung
33	chr21:47874000-47876800	Enhancers	Psoas Muscle	Psoas
34	chr21:47874000-47877200	Enhancers	Brain Angular Gyrus	brain
35	chr21:47874000-47877200	Enhancers	Left Ventricle	heart
36	chr21:47874000-47877200	Enhancers	Right Ventricle	heart
37	chr21:47874000-47877400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr21:47874000-47877400	Enhancers	Colon Smooth Muscle	Colon
39	chr21:47874000-47877400	Enhancers	Right Atrium	heart
40	chr21:47874000-47877600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr21:47874200-47876400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr21:47874200-47876400	Genic enhancers	Hela-S3	cervix
43	chr21:47874200-47877200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr21:47874200-47877200	Enhancers	HMEC	breast
45	chr21:47874200-47877400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr21:47874200-47877400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr21:47874200-47877400	Enhancers	Rectal Smooth Muscle	rectum
48	chr21:47874400-47876200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr21:47874400-47877200	Genic enhancers	Fetal Muscle Leg	muscle
50	chr21:47874600-47876000	Enhancers	Fetal Intestine Large	intestine

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