Variant report

Variant	rs565846088
Chromosome Location	chr21:45139298-45139299
allele	C/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	POLR2A	chr21:45138723-45139907	GM12878	blood:	n/a	n/a
3	MXI1	chr21:45137887-45140344	SK-N-SH	brain:	n/a	n/a
4	TAF1	chr21:45138671-45139747	HepG2	liver:	n/a	n/a
5	HEY1	chr21:45138700-45139453	HepG2	liver:	n/a	chr21:45138870-45138885
6	MYC	chr21:45139252-45139364	GM12878	blood:	n/a	n/a
7	TEAD4	chr21:45138495-45139425	K562	blood:	n/a	n/a
8	JUN	chr21:45138637-45139400	K562	blood:	n/a	n/a
9	ELF1	chr21:45139227-45139632	K562	blood:	n/a	chr21:45139436-45139445 chr21:45139607-45139616
10	POLR2A	chr21:45138656-45139891	HL-60	blood:	n/a	n/a
11	FOXP2	chr21:45138592-45139435	PFSK-1	brain:	n/a	n/a
12	CEBPB	chr21:45139098-45139499	IMR90	lung:	n/a	n/a
13	FOS	chr21:45139080-45139445	HUVEC	blood vessel:	n/a	n/a
14	ELF1	chr21:45138383-45139833	K562	blood:	n/a	chr21:45139436-45139445 chr21:45138528-45138540 chr21:45139607-45139616
15	EGR1	chr21:45139291-45139774	GM12878	blood:	n/a	chr21:45139428-45139441 chr21:45139431-45139440 chr21:45139430-45139440 chr21:45139429-45139440 chr21:45139428-45139441 chr21:45139428-45139442 chr21:45139424-45139446 chr21:45139378-45139387 chr21:45139427-45139442 chr21:45139430-45139440 chr21:45139431-45139441 chr21:45139428-45139441 chr21:45139428-45139441
16	NRF1	chr21:45138622-45139381	SK-N-SH	brain:	n/a	chr21:45138915-45138924 chr21:45139041-45139050
17	CEBPB	chr21:45139146-45139432	A549	lung:	n/a	n/a
18	POLR2A	chr21:45138622-45142597	IMR90	lung:	n/a	n/a
19	CEBPB	chr21:45138856-45139675	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr21:45138437-45140057	K562	blood:	n/a	chr21:45139547-45139557
21	POLR2A	chr21:45138548-45140067	PBDE	blood:	n/a	n/a
22	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
23	POLR2A	chr21:45138534-45139638	K562	blood:	n/a	n/a
24	HCFC1	chr21:45138558-45139722	K562	blood:	n/a	n/a
25	MAX	chr21:45138597-45139455	Hela-S3	cervix:	n/a	chr21:45138854-45138864
26	POLR2A	chr21:45138656-45139990	GM12892	blood:	n/a	n/a
27	EP300	chr21:45139059-45139430	HepG2	liver:	n/a	n/a
28	POLR2A	chr21:45138559-45140015	K562	blood:	n/a	n/a
29	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
30	PML	chr21:45138649-45140009	GM12878	blood:	n/a	n/a
31	STAT3	chr21:45139294-45139487	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr21:45138611-45139433	HCT-116	colon:	n/a	n/a
33	PAX5	chr21:45139071-45139424	GM12878	blood:	n/a	chr21:45139378-45139387
34	RCOR1	chr21:45139224-45139380	HepG2	liver:	n/a	n/a
35	MAX	chr21:45138430-45140132	ECC-1	luminal epithelium:	n/a	chr21:45138854-45138864
36	ETS1	chr21:45138665-45139394	K562	blood:	n/a	chr21:45138670-45138683 chr21:45138913-45138924
37	ELF1	chr21:45138149-45140445	GM12878	blood:	n/a	chr21:45140084-45140097 chr21:45139436-45139445 chr21:45138528-45138540 chr21:45139607-45139616
38	HEY1	chr21:45138343-45141309	K562	blood:	n/a	chr21:45140247-45140262 chr21:45138870-45138885
39	MAX	chr21:45138694-45139373	SK-N-SH	brain:	n/a	chr21:45138854-45138864
40	POLR2A	chr21:45138933-45139415	GM12891	blood:	n/a	n/a
41	SPI1	chr21:45138683-45139418	GM12878	blood:	n/a	n/a
42	CHD2	chr21:45138510-45139554	Hela-S3	cervix:	n/a	n/a
43	EGR1	chr21:45139104-45139817	ECC-1	luminal epithelium:	n/a	chr21:45139428-45139441 chr21:45139431-45139440 chr21:45139430-45139440 chr21:45139429-45139440 chr21:45139428-45139441 chr21:45139428-45139442 chr21:45139424-45139446 chr21:45139378-45139387 chr21:45139427-45139442 chr21:45139430-45139440 chr21:45139431-45139441 chr21:45139428-45139441 chr21:45139428-45139441
44	EGR1	chr21:45138425-45139785	K562	blood:	n/a	chr21:45138677-45138687 chr21:45139428-45139441 chr21:45138915-45138925 chr21:45139431-45139440 chr21:45139430-45139440 chr21:45139429-45139440 chr21:45139428-45139441 chr21:45138611-45138624 chr21:45139428-45139442 chr21:45139424-45139446 chr21:45138910-45138923 chr21:45139378-45139387 chr21:45139427-45139442 chr21:45139430-45139440 chr21:45139431-45139441 chr21:45139428-45139441 chr21:45138911-45138925 chr21:45139428-45139441
45	YY1	chr21:45138993-45139504	ECC-1	luminal epithelium:	n/a	chr21:45139239-45139259
46	MAX	chr21:45138723-45139373	HepG2	liver:	n/a	chr21:45138854-45138864
47	RFX5	chr21:45138743-45139350	K562	blood:	n/a	n/a
48	E2F4	chr21:45138589-45139556	K562	blood:	n/a	chr21:45138915-45138924 chr21:45138589-45138596 chr21:45138919-45138929 chr21:45138589-45138596 chr21:45138589-45138596
49	POLR2A	chr21:45138601-45139389	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr21:45138718-45140338	GM12878	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	chr21:45077301..45079668-chr21:45138843..45140832,3	K562	blood:
4	chr12:120727925..120730755-chr21:45138077..45140298,2	MCF-7	breast:
5	chr21:45138427..45140484-chr21:45209568..45212113,2	K562	blood:
6	chr21:45138878..45139799-chr21:45148124..45149007,3	K562	blood:
7	chr21:45138069..45142004-chr21:45192681..45200004,8	MCF-7	breast:
8	chr21:45078168..45080813-chr21:45138258..45142239,4	K562	blood:
9	chr21:44393615..44395899-chr21:45138113..45140493,2	K562	blood:
10	chr21:45137445..45140588-chr21:45195005..45197401,3	K562	blood:
11	chr21:45137354..45140305-chr21:45163614..45165870,3	MCF-7	breast:
12	chr21:45105070..45107899-chr21:45137956..45140399,2	MCF-7	breast:
13	chr21:45138749..45140625-chr21:45164594..45167451,2	MCF-7	breast:
14	chr17:41466194..41467161-chr21:45138941..45139461,2	MCF-7	breast:
15	chr11:62432398..62433340-chr21:45138648..45139625,2	MCF-7	breast:
16	chr17:62501067..62503702-chr21:45138284..45140156,2	MCF-7	breast:
17	chr21:44527539..44529052-chr21:45138865..45141097,2	K562	blood:
18	chr21:44527246..44529052-chr21:45137735..45140365,2	K562	blood:
19	chr21:45138839..45140766-chr21:45430959..45433329,2	MCF-7	breast:
20	chr21:45138000..45143848-chr21:45206375..45212489,9	MCF-7	breast:
21	chr21:45139088..45141459-chr21:45195022..45196764,2	K562	blood:
22	chr21:45077264..45080546-chr21:45137817..45144125,9	MCF-7	breast:
23	chr21:45137876..45142347-chr21:45194759..45200624,9	MCF-7	breast:
24	chr21:44394729..44396277-chr21:45138959..45140606,2	MCF-7	breast:
25	chr21:45136716..45139544-chr3:64006873..64009163,2	MCF-7	breast:

Variant related genes	Relation type
PDXK	TF binding region
ENSG00000160199	Chromatin interaction
ENSG00000160208	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000160201	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000258890	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000160207	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000214756	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	chr21:45138000-45139800	Active TSS	Brain Hippocampus Middle	brain
2	chr21:45138000-45140000	Active TSS	Rectal Smooth Muscle	rectum
3	chr21:45138000-45140000	Active TSS	Osteobl	bone
4	chr21:45138000-45140400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr21:45138200-45139800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr21:45138200-45139800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr21:45138200-45139800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr21:45138200-45139800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
9	chr21:45138200-45139800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr21:45138200-45139800	Active TSS	Fetal Brain Female	brain
11	chr21:45138200-45139800	Active TSS	NH-A	brain
12	chr21:45138200-45140000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr21:45138200-45140000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr21:45138200-45140200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr21:45138200-45140200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:45138200-45140200	Active TSS	Brain Cingulate Gyrus	brain
17	chr21:45138200-45140200	Active TSS	NHEK	skin
18	chr21:45138200-45140600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr21:45138200-45140600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:45138200-45141000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr21:45138400-45139400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr21:45138400-45139400	Bivalent/Poised TSS	Thymus	Thymus
23	chr21:45138400-45139600	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr21:45138400-45139600	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr21:45138400-45139600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr21:45138400-45139600	Active TSS	A549	lung
27	chr21:45138400-45139800	Active TSS	H1 Cell Line	embryonic stem cell
28	chr21:45138400-45139800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:45138400-45139800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr21:45138400-45139800	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr21:45138400-45139800	Active TSS	Brain Angular Gyrus	brain
32	chr21:45138400-45139800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr21:45138400-45139800	Active TSS	Fetal Intestine Large	intestine
34	chr21:45138400-45139800	Active TSS	Fetal Intestine Small	intestine
35	chr21:45138400-45139800	Bivalent/Poised TSS	Fetal Stomach	stomach
36	chr21:45138400-45139800	Active TSS	Psoas Muscle	Psoas
37	chr21:45138400-45139800	Active TSS	HepG2	liver
38	chr21:45138400-45140000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr21:45138400-45140000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr21:45138400-45140000	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr21:45138400-45140000	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr21:45138400-45140000	Active TSS	Aorta	Aorta
43	chr21:45138400-45140000	Active TSS	Brain Anterior Caudate	brain
44	chr21:45138400-45140000	Active TSS	Brain Substantia Nigra	brain
45	chr21:45138400-45140000	Active TSS	Colon Smooth Muscle	Colon
46	chr21:45138400-45140000	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr21:45138400-45140000	Active TSS	Esophagus	oesophagus
48	chr21:45138400-45140000	Active TSS	Gastric	stomach
49	chr21:45138400-45140000	Active TSS	Left Ventricle	heart
50	chr21:45138400-45140000	Active TSS	Lung	lung

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