Variant report

Variant	rs533684827
Chromosome Location	chr21:45160934-45160935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45160707-45161011	GM12878	blood:	n/a	n/a
2	MAX	chr21:45159587-45161125	A549	lung:	n/a	chr21:45160229-45160238
3	YY1	chr21:45160683-45161013	A549	lung:	n/a	n/a
4	POLR2A	chr21:45160739-45160946	Hela-S3	cervix:	n/a	n/a
5	ZBTB7A	chr21:45160869-45161006	K562	blood:	n/a	n/a
6	POLR2A	chr21:45160683-45161015	K562	blood:	n/a	n/a
7	GABPA	chr21:45160433-45161012	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr21:45160476-45160990	MCF-7	breast:	n/a	n/a
9	POLR2A	chr21:45159149-45161101	A549	lung:	n/a	n/a
10	YY1	chr21:45160712-45161064	NT2-D1	testis:	n/a	n/a
11	BCL3	chr21:45160274-45161086	A549	lung:	n/a	chr21:45160409-45160418
12	CREB1	chr21:45160660-45161034	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZBTB7A	chr21:45160106-45161177	ECC-1	luminal epithelium:	n/a	n/a
14	TCF12	chr21:45160505-45161000	A549	lung:	n/a	chr21:45160627-45160634
15	TCF12	chr21:45160366-45161049	ECC-1	luminal epithelium:	n/a	chr21:45160627-45160634
16	ZNF143	chr21:45160777-45160977	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUND	chr21:45159628-45161057	A549	lung:	n/a	chr21:45159685-45159693
18	HDAC2	chr21:45160497-45161092	MCF-7	breast:	n/a	n/a
19	BACH1	chr21:45160396-45161112	H1-hESC	embryonic stem cell:	n/a	n/a
20	ZBTB7A	chr21:45160882-45161047	HepG2	liver:	n/a	n/a
21	POLR2A	chr21:45159920-45160935	HepG2	liver:	n/a	n/a
22	MAX	chr21:45160424-45161055	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr21:45160547-45161027	A549	lung:	n/a	n/a
24	TBP	chr21:45160576-45160946	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr21:45160699-45160978	HepG2	liver:	n/a	n/a
26	FOXP2	chr21:45160693-45161032	PFSK-1	brain:	n/a	n/a
27	ZBTB7A	chr21:45160009-45161098	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr21:45160566-45161013	ECC-1	luminal epithelium:	n/a	n/a
29	SIN3A	chr21:45160625-45160947	H1-hESC	embryonic stem cell:	n/a	n/a
30	TCF12	chr21:45160506-45161052	ECC-1	luminal epithelium:	n/a	chr21:45160627-45160634
31	POLR2A	chr21:45160810-45160977	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr21:45160681-45161110	A549	lung:	n/a	n/a
33	POLR2A	chr21:45160680-45161017	GM12878	blood:	n/a	n/a
34	TEAD4	chr21:45160629-45161091	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr21:45160754-45161011	A549	lung:	n/a	n/a
36	POLR2A	chr21:45160737-45161048	GM12878	blood:	n/a	n/a
37	POLR2A	chr21:45159327-45161028	GM12892	blood:	n/a	n/a
38	ATF3	chr21:45160710-45160988	A549	lung:	n/a	chr21:45160849-45160862
39	POLR2A	chr21:45160675-45160997	Hela-S3	cervix:	n/a	n/a
40	HDAC2	chr21:45160746-45161027	H1-hESC	embryonic stem cell:	n/a	n/a
41	NFIC	chr21:45160497-45161076	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr21:45160667-45161030	A549	lung:	n/a	n/a
43	POLR2A	chr21:45160770-45161041	A549	lung:	n/a	n/a
44	POLR2A	chr21:45160754-45161030	H1-hESC	embryonic stem cell:	n/a	n/a
45	RAD21	chr21:45160523-45161061	ECC-1	luminal epithelium:	n/a	n/a
46	CREB1	chr21:45160649-45161059	A549	lung:	n/a	n/a
47	POLR2A	chr21:45160543-45161024	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45159502..45161246-chr21:45194764..45196763,2	MCF-7	breast:
2	chr21:45158615..45161441-chr21:45207897..45210708,2	K562	blood:
3	chr21:45159250..45162021-chr21:45208113..45211544,3	MCF-7	breast:
4	chr21:45152139..45163298-chr21:45164540..45174522,16	K562	blood:

No data

Variant related genes	Relation type
PDXK	TF binding region
ENSG00000160214	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160213	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv913875	chr21:45119629-45191005	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv587701	chr21:45128190-45181446	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv459290	chr21:45128454-45191139	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv587702	chr21:45128454-45191139	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	30 gene(s)	inside rSNPs	diseases
9	nsv913877	chr21:45133868-45163689	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer 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	nsv913878	chr21:45133868-45170285	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	esv1828675	chr21:45142427-45191139	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
13	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
16	nsv1055154	chr21:45148076-45203162	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
17	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
18	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
19	esv1829806	chr21:45152477-45172562	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
20	esv33771	chr21:45155220-45167253	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
21	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
22	esv1825138	chr21:45157128-45161432	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
23	esv1826296	chr21:45157128-45161432	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
24	esv1828527	chr21:45157128-45161432	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
25	esv1826549	chr21:45157128-45170285	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
26	esv3455393	chr21:45159129-45161156	Genic enhancers Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	esv3455394	chr21:45159129-45161156	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
28	nsv587708	chr21:45159512-45163689	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
29	nsv587709	chr21:45159512-45163690	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
30	esv1827080	chr21:45159733-45161432	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
31	esv1832666	chr21:45159733-45161432	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
32	nsv587714	chr21:45160053-45163689	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
33	nsv587716	chr21:45160087-45176621	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
34	esv3401334	chr21:45160149-45162697	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
35	esv3414485	chr21:45160374-45162322	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45146000-45163600	Weak transcription	Dnd41	blood
2	chr21:45149000-45194400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr21:45149400-45175400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr21:45149600-45163600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:45149600-45163600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr21:45149600-45163800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr21:45149600-45164200	Weak transcription	Primary B cells from cord blood	blood
8	chr21:45149800-45164200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr21:45149800-45164400	Weak transcription	Fetal Kidney	kidney
10	chr21:45149800-45175200	Weak transcription	HUVEC	blood vessel
11	chr21:45149800-45188200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr21:45150000-45161600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:45150000-45163600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr21:45150000-45173200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:45152200-45183400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr21:45152400-45163800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr21:45152400-45173200	Weak transcription	Psoas Muscle	Psoas
18	chr21:45153600-45163800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr21:45154000-45167000	Weak transcription	Small Intestine	intestine
20	chr21:45154200-45163400	Weak transcription	Colon Smooth Muscle	Colon
21	chr21:45154200-45163800	Weak transcription	NHDF-Ad	bronchial
22	chr21:45154400-45184200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr21:45154600-45164200	Weak transcription	Brain Substantia Nigra	brain
24	chr21:45154800-45164200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr21:45154800-45174600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr21:45155000-45161400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr21:45155000-45161400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr21:45155000-45163800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr21:45155000-45164400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr21:45155200-45161600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr21:45155200-45163600	Weak transcription	Fetal Lung	lung
32	chr21:45155200-45169200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr21:45155400-45161600	Weak transcription	Osteobl	bone
34	chr21:45155400-45163400	Weak transcription	HSMMtube	muscle
35	chr21:45155400-45163600	Weak transcription	Stomach Mucosa	stomach
36	chr21:45155400-45164200	Weak transcription	HSMM	muscle
37	chr21:45155400-45164200	Weak transcription	NH-A	brain
38	chr21:45155800-45161600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr21:45156000-45162000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:45156000-45163600	Weak transcription	Fetal Thymus	thymus
41	chr21:45156200-45161600	Weak transcription	GM12878-XiMat	blood
42	chr21:45156200-45162800	Strong transcription	Fetal Muscle Leg	muscle
43	chr21:45156200-45167400	Weak transcription	Brain Germinal Matrix	brain
44	chr21:45156400-45161200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr21:45156600-45161400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr21:45156800-45170600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr21:45157000-45163600	Weak transcription	Hela-S3	cervix
48	chr21:45157200-45161400	Weak transcription	Brain Angular Gyrus	brain
49	chr21:45158000-45161400	Weak transcription	Brain Hippocampus Middle	brain
50	chr21:45158000-45161400	Weak transcription	Rectal Mucosa Donor 31	rectum

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