Variant report

Variant	rs369291947
Chromosome Location	chr21:45905442-45905443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF7	chr21:45905068-45906199	H1-hESC	embryonic stem cell:	n/a	n/a
2	RCOR1	chr21:45905051-45905455	K562	blood:	n/a	n/a
3	POLR2A	chr21:45905254-45905640	A549	lung:	n/a	n/a
4	CTCF	chr21:45904891-45905643	SK-N-SH	brain:	n/a	chr21:45905188-45905206 chr21:45905189-45905205
5	POLR2A	chr21:45905337-45905594	HUVEC	blood vessel:	n/a	n/a
6	YY1	chr21:45905071-45905526	SK-N-SH_RA	brain:	n/a	n/a
7	MXI1	chr21:45905289-45905489	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF7	chr21:45905249-45905640	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr21:45905109-45905538	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr21:45905211-45906563	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD1	chr21:45905378-45905917	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr21:45905079-45905659	K562	blood:	n/a	n/a
13	POLR2A	chr21:45902243-45905465	HepG2	liver:	n/a	n/a
14	ATF2	chr21:45905039-45905445	H1-hESC	embryonic stem cell:	n/a	n/a
15	SP1	chr21:45905066-45905499	H1-hESC	embryonic stem cell:	n/a	chr21:45905316-45905327
16	POLR2A	chr21:45905169-45905641	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr21:45905189-45905715	A549	lung:	n/a	n/a
18	MAX	chr21:45905175-45905529	A549	lung:	n/a	n/a
19	POLR2A	chr21:45905106-45905718	PFSK-1	brain:	n/a	n/a
20	MAX	chr21:45905048-45905704	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr21:45905257-45905659	A549	lung:	n/a	n/a
22	CTCF	chr21:45905066-45905478	K562	blood:	n/a	chr21:45905188-45905206 chr21:45905189-45905205
23	SIN3AK20	chr21:45905061-45905498	SK-N-SH	brain:	n/a	n/a
24	MAX	chr21:45904972-45905824	A549	lung:	n/a	n/a
25	POLR2A	chr21:45905422-45905658	A549	lung:	n/a	n/a
26	TAF1	chr21:45905107-45905775	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr21:45905026-45905646	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr21:45905144-45905670	K562	blood:	n/a	n/a
29	MAFK	chr21:45905195-45905468	H1-hESC	embryonic stem cell:	n/a	n/a
30	SP4	chr21:45904971-45905562	H1-hESC	embryonic stem cell:	n/a	chr21:45905316-45905327
31	CTCF	chr21:45904888-45905511	A549	lung:	n/a	chr21:45905188-45905206 chr21:45905189-45905205
32	GTF2F1	chr21:45905184-45905622	H1-hESC	embryonic stem cell:	n/a	n/a
33	TAF1	chr21:45905237-45905685	H1-hESC	embryonic stem cell:	n/a	n/a
34	SP1	chr21:45905014-45905635	A549	lung:	n/a	chr21:45905316-45905327
35	UBTF	chr21:45905383-45905738	K562	blood:	n/a	n/a
36	NANOG	chr21:45905321-45905548	H1-hESC	embryonic stem cell:	n/a	n/a
37	SIN3A	chr21:45905129-45905724	H1-hESC	embryonic stem cell:	n/a	n/a
38	TCF7L2	chr21:45905172-45905706	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr21:45905222-45906133	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr21:45905268-45905591	A549	lung:	n/a	n/a
41	SP4	chr21:45905084-45905553	H1-hESC	embryonic stem cell:	n/a	chr21:45905316-45905327
42	MAX	chr21:45904998-45905729	SK-N-SH	brain:	n/a	n/a
43	ZNF143	chr21:45905044-45905498	H1-hESC	embryonic stem cell:	n/a	n/a
44	IRF1	chr21:45905162-45905479	K562	blood:	n/a	n/a
45	TAF1	chr21:45905068-45905723	SK-N-SH	brain:	n/a	n/a
46	MAX	chr21:45905009-45905759	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr21:45905276-45905629	A549	lung:	n/a	n/a
48	SP1	chr21:45904964-45905596	H1-hESC	embryonic stem cell:	n/a	chr21:45905316-45905327
49	POLR2A	chr21:45905050-45905737	PANC-1	pancreas:	n/a	n/a
50	MAX	chr21:45905195-45905614	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45758851..45761192-chr21:45902340..45905536,3	K562	blood:
2	chr21:45758316..45760568-chr21:45903461..45906076,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228709	TF binding region
ENSG00000232969	Chromatin interaction
ENSG00000160226	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
3	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
4	nsv913918	chr21:45697755-45941566	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
5	nsv1058359	chr21:45724055-45941566	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
6	nsv1065203	chr21:45731690-45941566	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv544473	chr21:45731690-45941566	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
8	nsv913942	chr21:45740823-45941566	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription 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	52 gene(s)	inside rSNPs	diseases
10	nsv1067264	chr21:45757599-45941566	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv544474	chr21:45757599-45941566	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	nsv913944	chr21:45757905-45941566	Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
13	nsv1058534	chr21:45812976-45916560	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv587801	chr21:45832912-45916560	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
16	nsv913948	chr21:45860912-46031810	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv834109	chr21:45869352-45916560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv1056424	chr21:45894901-46031810	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
19	nsv544475	chr21:45894901-46031810	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
20	nsv1055163	chr21:45895663-46031810	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
21	esv3404799	chr21:45903549-45906097	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	esv3375785	chr21:45903899-45905972	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv587802	chr21:45904905-45916560	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45881800-45911800	Weak transcription	Right Atrium	heart
2	chr21:45898600-45905600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:45898800-45906200	Weak transcription	Spleen	Spleen
4	chr21:45901000-45916000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr21:45905000-45905600	Flanking Active TSS	HepG2	liver
6	chr21:45905000-45905800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr21:45905000-45905800	Flanking Active TSS	Liver	Liver
8	chr21:45905000-45906600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr21:45905000-45906600	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr21:45905000-45906600	Enhancers	Placenta	Placenta
11	chr21:45905200-45905600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr21:45905200-45905600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:45905200-45905600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr21:45905200-45905600	Active TSS	Fetal Thymus	thymus
15	chr21:45905200-45905800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:45905200-45905800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:45905200-45906200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:45905200-45906200	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr21:45905200-45906200	Active TSS	Adipose Nuclei	Adipose
20	chr21:45905200-45906400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr21:45905200-45906400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr21:45905200-45906600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:45905200-45906600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:45905200-45906600	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr21:45905200-45906600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr21:45905200-45906600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:45905200-45906600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:45905200-45906600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr21:45905200-45906600	Active TSS	A549	lung
30	chr21:45905200-45906800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr21:45905400-45905600	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr21:45905400-45905600	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr21:45905400-45905600	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood
34	chr21:45905400-45905600	Bivalent/Poised TSS	Primary B cells from peripheral blood	blood
35	chr21:45905400-45905600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
36	chr21:45905400-45905600	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr21:45905400-45905600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr21:45905400-45905600	Flanking Active TSS	Lung	lung
39	chr21:45905400-45905800	Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr21:45905400-45905800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr21:45905400-45905800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr21:45905400-45905800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr21:45905400-45905800	Active TSS	Fetal Kidney	kidney
44	chr21:45905400-45905800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
45	chr21:45905400-45905800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
46	chr21:45905400-45905800	Active TSS	Ovary	ovary
47	chr21:45905400-45906000	Active TSS	Brain Germinal Matrix	brain
48	chr21:45905400-45906000	Active TSS	Fetal Intestine Small	intestine
49	chr21:45905400-45906000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
50	chr21:45905400-45906000	Active TSS	Osteobl	bone

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