Variant report

Variant	rs552957993
Chromosome Location	chr21:45149168-45149169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45148283-45149187	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF263	chr21:45147349-45149233	HEK293-T-REx	kidney:	n/a	chr21:45148434-45148443 chr21:45148431-45148440 chr21:45148544-45148553
3	MXI1	chr21:45147556-45149627	SK-N-SH	brain:	n/a	n/a
4	BCLAF1	chr21:45148295-45149208	GM12878	blood:	n/a	chr21:45148987-45148996 chr21:45148979-45148992 chr21:45148448-45148461 chr21:45148948-45148961
5	CTCF	chr21:45149060-45149210	HepG2	liver:	n/a	n/a
6	CTCF	chr21:45149100-45149250	HFF	foreskin:	n/a	n/a
7	YY1	chr21:45148293-45149196	K562	blood:	n/a	chr21:45148979-45148993
8	TBL1XR1	chr21:45149125-45149193	GM12878	blood:	n/a	n/a
9	CTCF	chr21:45149140-45149290	AG09309	skin:	n/a	n/a
10	MAX	chr21:45147321-45149596	HepG2	liver:	n/a	chr21:45148531-45148540 chr21:45148566-45148581 chr21:45148190-45148199 chr21:45148571-45148578 chr21:45148568-45148583 chr21:45148570-45148579 chr21:45148570-45148580 chr21:45149136-45149146 chr21:45148533-45148542 chr21:45148532-45148539 chr21:45148531-45148541
11	POLR2A	chr21:45148174-45149182	SK-N-SH	brain:	n/a	n/a
12	CCNT2	chr21:45147842-45149247	K562	blood:	n/a	chr21:45147962-45147971
13	POLR2A	chr21:45148141-45149230	GM12878	blood:	n/a	n/a
14	HMGN3	chr21:45149076-45149267	K562	blood:	n/a	n/a
15	POLR2A	chr21:45148203-45149303	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr21:45148934-45149548	HepG2	liver:	n/a	n/a
17	ELF1	chr21:45148202-45149170	K562	blood:	n/a	chr21:45148981-45148993
18	CTCF	chr21:45149120-45149270	HRE	kidney:	n/a	n/a
19	BACH1	chr21:45149047-45149169	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr21:45147127-45149440	K562	blood:	n/a	n/a
21	ZBTB7A	chr21:45148215-45149337	K562	blood:	n/a	n/a
22	POLR2A	chr21:45146597-45149266	A549	lung:	n/a	n/a
23	FOXA1	chr21:45148925-45149190	HepG2	liver:	n/a	n/a
24	BHLHE40	chr21:45149150-45149334	K562	blood:	n/a	n/a
25	POLR2A	chr21:45146212-45150537	HepG2	liver:	n/a	n/a
26	TAF7	chr21:45148401-45149174	H1-hESC	embryonic stem cell:	n/a	n/a
27	MXI1	chr21:45147601-45149800	IMR90	lung:	n/a	n/a
28	FOXA2	chr21:45148957-45149188	HepG2	liver:	n/a	n/a
29	POLR2A	chr21:45148279-45149295	HEK293	kidney:	n/a	n/a
30	TAF1	chr21:45148183-45149273	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr21:45148187-45149343	K562	blood:	n/a	n/a
32	HEY1	chr21:45148931-45149201	K562	blood:	n/a	n/a
33	CTCF	chr21:45148308-45149190	K562	blood:	n/a	n/a
34	JUN	chr21:45147969-45149578	K562	blood:	n/a	chr21:45148409-45148419 chr21:45148408-45148420 chr21:45148409-45148419 chr21:45148409-45148419 chr21:45148953-45148962 chr21:45148410-45148418 chr21:45148409-45148419
35	POLR2A	chr21:45147668-45149177	HepG2	liver:	n/a	n/a
36	POLR2A	chr21:45146387-45149715	GM12878	blood:	n/a	n/a
37	CTCF	chr21:45148779-45149202	K562	blood:	n/a	n/a
38	POLR2A	chr21:45149008-45149270	A549	lung:	n/a	n/a
39	SIN3A	chr21:45148233-45149225	H1-hESC	embryonic stem cell:	n/a	n/a
40	FOXA1	chr21:45148936-45149173	HepG2	liver:	n/a	n/a
41	POLR2A	chr21:45147368-45149350	PBDE	blood:	n/a	n/a
42	ELF1	chr21:45148209-45149525	GM12878	blood:	n/a	chr21:45148981-45148993
43	POLR2A	chr21:45147382-45149254	HepG2	liver:	n/a	n/a
44	CTCF	chr21:45149060-45149210	RPTEC	kidney:	n/a	n/a
45	MTA3	chr21:45148123-45149396	GM12878	blood:	n/a	n/a
46	TBP	chr21:45148280-45149231	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr21:45148290-45149263	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr21:45147378-45150044	IMR90	lung:	n/a	n/a
49	POLR2A	chr21:45147382-45149739	GM12892	blood:	n/a	n/a
50	HEY1	chr21:45147989-45149279	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45149141-45149191	SAEC	small airway:	n/a
2	chr21:45149141-45149191	HMEC	breast:	n/a
3	chr21:45149141-45149191	AoSMC	blood vessel:	n/a
4	chr21:45149141-45149191	A549	lung:	n/a
5	chr21:45149141-45149191	CMK	blood:	n/a
6	chr21:45149141-45149191	HRE	kidney:	n/a
7	chr21:45149141-45149191	Jurkat	blood:	n/a
8	chr21:45149141-45149191	PANC-1	pancreas:	n/a
9	chr21:45149141-45149191	AG10803	skin:	n/a
10	chr21:45149141-45149191	Hela-S3	cervix:	n/a
11	chr21:45149141-45149191	SK-N-SH	brain:	n/a
12	chr21:45149141-45149191	NT2-D1	testis:	n/a
13	chr21:45149141-45149191	HCT-116	colon:	n/a
14	chr21:45149141-45149191	HNPCEpiC	eye:	n/a
15	chr21:45149141-45149191	HCM	heart:	n/a
16	chr21:45149141-45149191	GM06990	blood:	n/a
17	chr21:45149141-45149191	HUVEC	blood vessel:	n/a
18	chr21:45149141-45149191	HRCEpiC	kidney:	n/a
19	chr21:45149141-45149191	Caco-2	colon:	n/a
20	chr21:45149141-45149191	Hepatocyte	liver:	n/a
21	chr21:45149141-45149191	RPTEC	kidney:	n/a
22	chr21:45149141-45149191	HIPEpiC	eye:	n/a
23	chr21:45149141-45149191	AG04449	skin:	fetal
24	chr21:45149141-45149191	LNCaP	prostate:	n/a
25	chr21:45149141-45149191	HRPEpiC	eye:	n/a
26	chr21:45149141-45149191	BE2_C	brain:	n/a
27	chr21:45149141-45149191	HEK293	kidney:	embryo
28	chr21:45149141-45149191	HEEpiC	esophagus:	n/a
29	chr21:45149141-45149191	HepG2	liver:	n/a
30	chr21:45149141-45149191	GM19239	blood:	n/a
31	chr21:45149141-45149191	AG04450	lung:	fetal
32	chr21:45149141-45149191	HL-60	blood:	n/a
33	chr21:45149141-45149191	HPAEpiC	pulmonary alveolar:	n/a
34	chr21:45149141-45149191	PFSK-1	brain:	n/a
35	chr21:45149141-45149191	BJ	skin:	n/a
36	chr21:45149141-45149191	GM12878	blood:	n/a
37	chr21:45149141-45149191	SKMC	muscle:	n/a
38	chr21:45149141-45149191	NH-A	brain:	n/a
39	chr21:45149141-45149191	ovcar-3	ovarian:	n/a
40	chr21:45149141-45149191	HCF	heart:	n/a
41	chr21:45149141-45149191	U87	brain:	n/a
42	chr21:45149141-45149191	IMR90	lung:	fetal
43	chr21:45149141-45149191	AG09319	gingival:	n/a
44	chr21:45149141-45149191	SK-N-SH_RA	brain:	n/a
45	chr21:45149141-45149191	AG09309	skin:	n/a
46	chr21:45149141-45149191	NHDF-neo	bronchial:	n/a
47	chr21:45149141-45149191	K562	blood:	n/a
48	chr21:45149141-45149191	T-47D	breast:	n/a
49	chr21:45149141-45149191	SK-N-MC	brain:	n/a
50	chr21:45149141-45149191	MCF-7	breast:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45147195..45149472-chr21:45196303..45198972,2	K562	blood:
2	chr21:45147353..45150091-chr21:45163613..45167274,4	K562	blood:
3	chr21:44297829..44300678-chr21:45147311..45150231,2	K562	blood:
4	chr21:45148918..45151033-chr21:45195012..45197870,3	MCF-7	breast:
5	chr21:45146930..45150669-chr21:45163613..45169103,5	K562	blood:

No data

Variant related genes	Relation type
PDXK	TF binding region
PDXK	CpG island
ENSG00000160209	Chromatin interaction
ENSG00000160194	Chromatin interaction
ENSG00000160193	Chromatin interaction
ENSG00000160213	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45145200-45149400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr21:45145200-45149600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr21:45146000-45163600	Weak transcription	Dnd41	blood
4	chr21:45146600-45149400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:45146600-45149400	Enhancers	Small Intestine	intestine
6	chr21:45146600-45149600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr21:45146600-45149600	Enhancers	Gastric	stomach
8	chr21:45146800-45149400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr21:45146800-45149600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:45147000-45149200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr21:45147400-45149600	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr21:45147400-45149600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr21:45147400-45149600	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr21:45147600-45149200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr21:45147800-45149200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr21:45147800-45149400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr21:45147800-45149400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr21:45147800-45149600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
19	chr21:45148000-45149200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr21:45148000-45149200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:45148000-45149200	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr21:45148000-45149400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr21:45148000-45149400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr21:45148000-45149600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr21:45148000-45149600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr21:45148000-45149600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr21:45148000-45149600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr21:45148000-45149600	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr21:45148000-45149600	Flanking Active TSS	Placenta	Placenta
30	chr21:45148000-45149600	Flanking Active TSS	HMEC	breast
31	chr21:45148000-45149800	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr21:45148200-45149200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr21:45148200-45149200	Flanking Active TSS	Fetal Brain Male	brain
34	chr21:45148200-45149200	Active TSS	Ovary	ovary
35	chr21:45148200-45149200	Active TSS	Right Atrium	heart
36	chr21:45148200-45149400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr21:45148200-45149400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr21:45148200-45149400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr21:45148200-45149400	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr21:45148200-45149400	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr21:45148200-45149400	Flanking Active TSS	Liver	Liver
42	chr21:45148200-45149600	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr21:45148200-45149600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:45148200-45149600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr21:45148200-45149800	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr21:45148200-45149800	Active TSS	Fetal Kidney	kidney
47	chr21:45148400-45149200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr21:45148400-45149200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr21:45148400-45149200	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr21:45148400-45149200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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