Variant report

Variant	rs562006634
Chromosome Location	chr21:45138759-45138760
allele	A/G
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	POLR2A	chr21:45138501-45139510	PFSK-1	brain:	n/a	n/a
2	CTCF	chr21:45138740-45138890	GM12871	blood:	n/a	chr21:45138861-45138874
3	POLR2A	chr21:45138723-45139907	GM12878	blood:	n/a	n/a
4	CTCF	chr21:45138738-45138907	MCF-7	breast:	n/a	chr21:45138861-45138874
5	MXI1	chr21:45137887-45140344	SK-N-SH	brain:	n/a	n/a
6	PML	chr21:45138624-45139238	K562	blood:	n/a	n/a
7	ZBTB7A	chr21:45138308-45138933	ECC-1	luminal epithelium:	n/a	chr21:45138683-45138691
8	TAF1	chr21:45138671-45139747	HepG2	liver:	n/a	n/a
9	PAX5	chr21:45138747-45138960	GM12878	blood:	n/a	chr21:45138873-45138882 chr21:45138871-45138880
10	HEY1	chr21:45138700-45139453	HepG2	liver:	n/a	chr21:45138870-45138885
11	POLR2A	chr21:45138641-45139162	HUVEC	blood vessel:	n/a	n/a
12	TEAD4	chr21:45138495-45139425	K562	blood:	n/a	n/a
13	JUN	chr21:45138637-45139400	K562	blood:	n/a	n/a
14	POLR2A	chr21:45138656-45139891	HL-60	blood:	n/a	n/a
15	TCF12	chr21:45138484-45139059	GM12878	blood:	n/a	n/a
16	FOXP2	chr21:45138592-45139435	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr21:45138603-45139291	HEK293	kidney:	n/a	n/a
18	CTCF	chr21:45138720-45138870	GM12868	blood:	n/a	n/a
19	ELF1	chr21:45138383-45139833	K562	blood:	n/a	chr21:45139436-45139445 chr21:45138528-45138540 chr21:45139607-45139616
20	ELK1	chr21:45138752-45139022	Hela-S3	cervix:	n/a	n/a
21	NRF1	chr21:45138622-45139381	SK-N-SH	brain:	n/a	chr21:45138915-45138924 chr21:45139041-45139050
22	IRF4	chr21:45138745-45138988	GM12878	blood:	n/a	chr21:45138891-45138905
23	CTCF	chr21:45138710-45138935	GM12891	blood:	n/a	chr21:45138861-45138874
24	EP300	chr21:45138726-45138957	GM12878	blood:	n/a	chr21:45138908-45138924
25	CTCF	chr21:45138680-45138830	HPF	lung:	n/a	n/a
26	POLR2A	chr21:45138622-45142597	IMR90	lung:	n/a	n/a
27	CTCF	chr21:45138700-45138850	HEEpiC	esophagus:	n/a	n/a
28	SP4	chr21:45138688-45138917	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAZ	chr21:45138644-45139091	HepG2	liver:	n/a	chr21:45138854-45138864
30	CTCF	chr21:45138740-45138890	GM12873	blood:	n/a	chr21:45138861-45138874
31	CHD2	chr21:45138437-45140057	K562	blood:	n/a	chr21:45139547-45139557
32	CTCF	chr21:45138630-45138959	IMR90	lung:	n/a	chr21:45138861-45138874
33	POLR2A	chr21:45138548-45140067	PBDE	blood:	n/a	n/a
34	EGR1	chr21:45138598-45140718	MCF-7	breast:	n/a	chr21:45138677-45138687 chr21:45139428-45139441 chr21:45140040-45140051 chr21:45138915-45138925 chr21:45139431-45139440 chr21:45139430-45139440 chr21:45140085-45140094 chr21:45139429-45139440 chr21:45139428-45139441 chr21:45140040-45140051 chr21:45138611-45138624 chr21:45139428-45139442 chr21:45139424-45139446 chr21:45138910-45138923 chr21:45139378-45139387 chr21:45139427-45139442 chr21:45140040-45140054 chr21:45139430-45139440 chr21:45140042-45140051 chr21:45139431-45139441 chr21:45139428-45139441 chr21:45138911-45138925 chr21:45139428-45139441
35	CTCF	chr21:45138720-45138870	GM12869	blood:	n/a	n/a
36	POLR2A	chr21:45138534-45139638	K562	blood:	n/a	n/a
37	YY1	chr21:45138718-45138969	GM12891	blood:	n/a	chr21:45138912-45138926 chr21:45138915-45138924 chr21:45138864-45138878 chr21:45138875-45138889
38	HCFC1	chr21:45138558-45139722	K562	blood:	n/a	n/a
39	MYC	chr21:45138752-45138963	MCF-7	breast:	n/a	chr21:45138854-45138864
40	MAX	chr21:45138597-45139455	Hela-S3	cervix:	n/a	chr21:45138854-45138864
41	POLR2A	chr21:45138656-45139990	GM12892	blood:	n/a	n/a
42	MAFF	chr21:45138659-45138972	HepG2	liver:	n/a	n/a
43	SMC3	chr21:45138621-45139185	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr21:45138559-45140015	K562	blood:	n/a	n/a
45	IRF1	chr21:45138639-45139450	K562	blood:	n/a	chr21:45139335-45139344 chr21:45138891-45138905 chr21:45138894-45138905 chr21:45138887-45138907 chr21:45138893-45138904 chr21:45138893-45138906 chr21:45138914-45138928 chr21:45138893-45138907
46	EBF1	chr21:45138723-45138978	GM12878	blood:	n/a	n/a
47	CTCF	chr21:45138734-45138908	MCF-7	breast:	n/a	chr21:45138861-45138874
48	PML	chr21:45138649-45140009	GM12878	blood:	n/a	n/a
49	CTCF	chr21:45138622-45138943	GM12892	blood:	n/a	chr21:45138861-45138874
50	CTCF	chr21:45138620-45138770	GM12875	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45103862..45106671-chr21:45138223..45140782,2	MCF-7	breast:
2	chr21:45136894..45141532-chr21:45205840..45211872,8	MCF-7	breast:
3	chr12:120727925..120730755-chr21:45138077..45140298,2	MCF-7	breast:
4	chr21:45138427..45140484-chr21:45209568..45212113,2	K562	blood:
5	chr21:45138069..45142004-chr21:45192681..45200004,8	MCF-7	breast:
6	chr21:45078168..45080813-chr21:45138258..45142239,4	K562	blood:
7	chr21:44393615..44395899-chr21:45138113..45140493,2	K562	blood:
8	chr21:45137445..45140588-chr21:45195005..45197401,3	K562	blood:
9	chr21:45137354..45140305-chr21:45163614..45165870,3	MCF-7	breast:
10	chr21:45105070..45107899-chr21:45137956..45140399,2	MCF-7	breast:
11	chr21:45138749..45140625-chr21:45164594..45167451,2	MCF-7	breast:
12	chr21:45137459..45139006-chr21:45757903..45760574,2	K562	blood:
13	chr11:62432398..62433340-chr21:45138648..45139625,2	MCF-7	breast:
14	chr17:62501067..62503702-chr21:45138284..45140156,2	MCF-7	breast:
15	chr21:44527246..44529052-chr21:45137735..45140365,2	K562	blood:
16	chr21:45138000..45143848-chr21:45206375..45212489,9	MCF-7	breast:
17	chr21:45077264..45080546-chr21:45137817..45144125,9	MCF-7	breast:
18	chr21:45137509..45139216-chr21:45209353..45211646,2	K562	blood:
19	chr21:45137876..45142347-chr21:45194759..45200624,9	MCF-7	breast:
20	chr21:45136618..45138870-chr21:45233345..45236189,2	MCF-7	breast:
21	chr21:45136716..45139544-chr3:64006873..64009163,2	MCF-7	breast:

Variant related genes	Relation type
PDXK	TF binding region
ENSG00000160226	Chromatin interaction
ENSG00000258890	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000160199	Chromatin interaction
ENSG00000160207	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000160201	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000160208	Chromatin interaction
ENSG00000160213	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1066613	chr21:45108233-45148136	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	esv3424986	chr21:45118675-45158421	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv3329872	chr21:45118725-45158757	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	esv3387851	chr21:45137749-45140297	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
17	esv3406453	chr21:45138149-45140697	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45138000-45138800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr21:45138000-45139000	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr21:45138000-45139200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr21:45138000-45139800	Active TSS	Brain Hippocampus Middle	brain
5	chr21:45138000-45140000	Active TSS	Rectal Smooth Muscle	rectum
6	chr21:45138000-45140000	Active TSS	Osteobl	bone
7	chr21:45138000-45140400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr21:45138200-45138800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr21:45138200-45138800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr21:45138200-45138800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr21:45138200-45138800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr21:45138200-45138800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr21:45138200-45138800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr21:45138200-45138800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:45138200-45138800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr21:45138200-45138800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
17	chr21:45138200-45138800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr21:45138200-45138800	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr21:45138200-45138800	Flanking Active TSS	HMEC	breast
20	chr21:45138200-45139800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:45138200-45139800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr21:45138200-45139800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr21:45138200-45139800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
24	chr21:45138200-45139800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr21:45138200-45139800	Active TSS	Fetal Brain Female	brain
26	chr21:45138200-45139800	Active TSS	NH-A	brain
27	chr21:45138200-45140000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr21:45138200-45140000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr21:45138200-45140200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr21:45138200-45140200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr21:45138200-45140200	Active TSS	Brain Cingulate Gyrus	brain
32	chr21:45138200-45140200	Active TSS	NHEK	skin
33	chr21:45138200-45140600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr21:45138200-45140600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr21:45138200-45141000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr21:45138400-45138800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr21:45138400-45138800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr21:45138400-45138800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr21:45138400-45139000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr21:45138400-45139000	Enhancers	Fetal Brain Male	brain
41	chr21:45138400-45139000	Flanking Active TSS	Dnd41	blood
42	chr21:45138400-45139200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr21:45138400-45139200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr21:45138400-45139200	Transcr. at gene 5' and 3'	Right Atrium	heart
45	chr21:45138400-45139200	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr21:45138400-45139400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr21:45138400-45139400	Bivalent/Poised TSS	Thymus	Thymus
48	chr21:45138400-45139600	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr21:45138400-45139600	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr21:45138400-45139600	Active TSS	Breast Myoepithelial Primary Cells	Breast

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