Variant report

Variant	rs551412830
Chromosome Location	chr21:45138261-45138262
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	MXI1	chr21:45137887-45140344	SK-N-SH	brain:	n/a	n/a
2	RCOR1	chr21:45138255-45138441	K562	blood:	n/a	n/a
3	ELF1	chr21:45138149-45140445	GM12878	blood:	n/a	chr21:45140084-45140097 chr21:45139436-45139445 chr21:45138528-45138540 chr21:45139607-45139616
4	E2F6	chr21:45138100-45139035	H1-hESC	embryonic stem cell:	n/a	chr21:45138915-45138924 chr21:45138427-45138436 chr21:45138589-45138596 chr21:45138919-45138929 chr21:45138588-45138600 chr21:45138589-45138596 chr21:45138589-45138596
5	E2F6	chr21:45138207-45139738	K562	blood:	n/a	chr21:45139556-45139568 chr21:45138915-45138924 chr21:45138427-45138436 chr21:45138589-45138596 chr21:45138919-45138929 chr21:45138588-45138600 chr21:45138589-45138596 chr21:45138589-45138596
6	HCFC1	chr21:45138157-45140065	Hela-S3	cervix:	n/a	n/a
7	HDAC2	chr21:45138240-45140794	MCF-7	breast:	n/a	chr21:45138613-45138622 chr21:45139893-45139902
8	POLR2A	chr21:45138197-45140874	K562	blood:	n/a	n/a
9	HMGN3	chr21:45138221-45140569	K562	blood:	n/a	n/a
10	POLR2A	chr21:45138131-45141133	A549	lung:	n/a	n/a
11	MAX	chr21:45138036-45140203	K562	blood:	n/a	chr21:45138854-45138864
12	JUN	chr21:45137800-45139987	K562	blood:	n/a	n/a
13	MAX	chr21:45138043-45139461	H1-hESC	embryonic stem cell:	n/a	chr21:45138854-45138864
14	POLR2A	chr21:45137998-45140766	K562	blood:	n/a	n/a
15	NR2F2	chr21:45137956-45139875	K562	blood:	n/a	n/a
16	MAX	chr21:45138154-45140799	MCF-7	breast:	n/a	chr21:45138854-45138864
17	MAX	chr21:45138103-45138561	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr21:45138058-45140811	Hela-S3	cervix:	n/a	n/a
19	ZBTB7A	chr21:45138109-45139749	K562	blood:	n/a	chr21:45139552-45139559 chr21:45138683-45138691
20	E2F6	chr21:45137952-45139081	H1-hESC	embryonic stem cell:	n/a	chr21:45138915-45138924 chr21:45138427-45138436 chr21:45138589-45138596 chr21:45138919-45138929 chr21:45138588-45138600 chr21:45138589-45138596 chr21:45138589-45138596
21	E2F6	chr21:45138169-45140000	K562	blood:	n/a	chr21:45139556-45139568 chr21:45138915-45138924 chr21:45138427-45138436 chr21:45138589-45138596 chr21:45138919-45138929 chr21:45138588-45138600 chr21:45138589-45138596 chr21:45138589-45138596
22	ZBTB7A	chr21:45138154-45138913	ECC-1	luminal epithelium:	n/a	chr21:45138683-45138691
23	POLR2A	chr21:45138075-45138262	A549	lung:	n/a	n/a
24	POLR2A	chr21:45138107-45139711	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZBTB7A	chr21:45138194-45139053	K562	blood:	n/a	chr21:45138683-45138691
26	MXI1	chr21:45137840-45140315	IMR90	lung:	n/a	n/a
27	MAX	chr21:45138203-45140401	HepG2	liver:	n/a	chr21:45138854-45138864
28	MAZ	chr21:45138078-45140752	IMR90	lung:	n/a	chr21:45138854-45138864

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	chr21:45138069..45142004-chr21:45192681..45200004,8	MCF-7	breast:
5	chr21:45078168..45080813-chr21:45138258..45142239,4	K562	blood:
6	chr21:44393615..44395899-chr21:45138113..45140493,2	K562	blood:
7	chr21:45137445..45140588-chr21:45195005..45197401,3	K562	blood:
8	chr21:45137354..45140305-chr21:45163614..45165870,3	MCF-7	breast:
9	chr21:45105070..45107899-chr21:45137956..45140399,2	MCF-7	breast:
10	chr21:45137459..45139006-chr21:45757903..45760574,2	K562	blood:
11	chr21:44527246..44529052-chr21:45137735..45140365,2	K562	blood:
12	chr21:45138000..45143848-chr21:45206375..45212489,9	MCF-7	breast:
13	chr21:45077264..45080546-chr21:45137817..45144125,9	MCF-7	breast:
14	chr21:45137509..45139216-chr21:45209353..45211646,2	K562	blood:
15	chr21:45136545..45138543-chr21:45189331..45190847,2	K562	blood:
16	chr21:45137876..45142347-chr21:45194759..45200624,9	MCF-7	breast:
17	chr21:45136618..45138870-chr21:45233345..45236189,2	MCF-7	breast:
18	chr21:45136716..45139544-chr3:64006873..64009163,2	MCF-7	breast:

Variant related genes	Relation type
PDXK	TF binding region
ENSG00000160214	Chromatin interaction
ENSG00000160208	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160207	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000160201	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000160199	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45123600-45138400	Weak transcription	Right Atrium	heart
2	chr21:45135800-45138400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr21:45136000-45138400	Enhancers	HSMM	muscle
4	chr21:45136000-45138400	Enhancers	HSMMtube	muscle
5	chr21:45136400-45138400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr21:45136800-45138400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr21:45137600-45138400	Weak transcription	NHDF-Ad	bronchial
8	chr21:45138000-45138400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr21:45138000-45138400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr21:45138000-45138400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr21:45138000-45138400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr21:45138000-45138400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr21:45138000-45138400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr21:45138000-45138400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr21:45138000-45138400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr21:45138000-45138400	Enhancers	Liver	Liver
17	chr21:45138000-45138400	Enhancers	Brain Anterior Caudate	brain
18	chr21:45138000-45138400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr21:45138000-45138400	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr21:45138000-45138400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr21:45138000-45138400	Enhancers	Gastric	stomach
22	chr21:45138000-45138400	Flanking Active TSS	Stomach Mucosa	stomach
23	chr21:45138000-45138400	Flanking Active TSS	A549	lung
24	chr21:45138000-45138400	Flanking Active TSS	HepG2	liver
25	chr21:45138000-45138400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
26	chr21:45138000-45138600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr21:45138000-45138600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr21:45138000-45138600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr21:45138000-45138600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr21:45138000-45138600	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr21:45138000-45138600	Enhancers	Spleen	Spleen
32	chr21:45138000-45138600	Flanking Active TSS	GM12878-XiMat	blood
33	chr21:45138000-45138600	Flanking Active TSS	K562	blood
34	chr21:45138000-45138800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr21:45138000-45139000	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr21:45138000-45139200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr21:45138000-45139800	Active TSS	Brain Hippocampus Middle	brain
38	chr21:45138000-45140000	Active TSS	Rectal Smooth Muscle	rectum
39	chr21:45138000-45140000	Active TSS	Osteobl	bone
40	chr21:45138000-45140400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr21:45138200-45138400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr21:45138200-45138400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr21:45138200-45138400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:45138200-45138400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr21:45138200-45138400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr21:45138200-45138400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr21:45138200-45138400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr21:45138200-45138400	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr21:45138200-45138400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr21:45138200-45138400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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