Variant report

Variant	rs569796232
Chromosome Location	chr21:17101988-17101989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:231)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:231 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:17101869-17102212	HUVEC	blood vessel:	n/a	n/a
2	ZKSCAN1	chr21:17101766-17102488	Hela-S3	cervix:	n/a	n/a
3	GTF2F1	chr21:17101987-17102613	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr21:17101798-17104031	Hela-S3	cervix:	n/a	n/a
5	MAX	chr21:17101749-17103282	K562	blood:	n/a	n/a
6	ZEB1	chr21:17101864-17102179	GM12878	blood:	n/a	n/a
7	TBL1XR1	chr21:17101892-17102547	K562	blood:	n/a	n/a
8	TAF1	chr21:17101840-17102203	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF263	chr21:17101887-17103006	K562	blood:	n/a	chr21:17102283-17102292 chr21:17102862-17102871
10	POLR2A	chr21:17101673-17103285	K562	blood:	n/a	n/a
11	E2F6	chr21:17101929-17102996	K562	blood:	n/a	chr21:17102088-17102102
12	TCF7L2	chr21:17101777-17102523	Hela-S3	cervix:	n/a	n/a
13	MAFK	chr21:17101804-17102092	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr21:17101826-17103238	K562	blood:	n/a	n/a
15	SIN3AK20	chr21:17101590-17102682	MCF-7	breast:	n/a	n/a
16	MAZ	chr21:17101770-17103256	IMR90	lung:	n/a	n/a
17	CHD2	chr21:17101813-17102564	K562	blood:	n/a	n/a
18	POLR2A	chr21:17101769-17103109	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr21:17101844-17104032	GM12891	blood:	n/a	n/a
20	MYC	chr21:17101681-17104363	K562	blood:	n/a	chr21:17104164-17104174 chr21:17104163-17104178 chr21:17104163-17104173
21	MAX	chr21:17101783-17102809	A549	lung:	n/a	n/a
22	TBP	chr21:17101812-17103864	K562	blood:	n/a	n/a
23	MAZ	chr21:17101746-17103209	K562	blood:	n/a	n/a
24	POLR2A	chr21:17101841-17103828	GM12878	blood:	n/a	n/a
25	CUX1	chr21:17101756-17102039	K562	blood:	n/a	n/a
26	POLR2A	chr21:17101743-17102198	Hela-S3	cervix:	n/a	n/a
27	CREB1	chr21:17101789-17102787	HepG2	liver:	n/a	n/a
28	E2F1	chr21:17101872-17102927	Hela-S3	cervix:	n/a	chr21:17102088-17102102
29	HDAC2	chr21:17101880-17102199	H1-hESC	embryonic stem cell:	n/a	chr21:17101938-17101947
30	UBTF	chr21:17101795-17103350	K562	blood:	n/a	n/a
31	ELF1	chr21:17101829-17102635	GM12878	blood:	n/a	chr21:17102539-17102551 chr21:17102468-17102480
32	HEY1	chr21:17101856-17102591	HepG2	liver:	n/a	chr21:17102090-17102105 chr21:17102463-17102478
33	RAD21	chr21:17101784-17102227	H1-hESC	embryonic stem cell:	n/a	chr21:17101999-17102011
34	POLR2A	chr21:17101858-17103263	Raji	blood:	n/a	n/a
35	RAD21	chr21:17101705-17102652	Hela-S3	cervix:	n/a	chr21:17101999-17102011
36	TBL1XR1	chr21:17101912-17102773	GM12878	blood:	n/a	n/a
37	POLR2A	chr21:17101824-17103936	K562	blood:	n/a	n/a
38	CTBP2	chr21:17101903-17102641	H1-hESC	embryonic stem cell:	n/a	n/a
39	YY1	chr21:17101968-17102192	GM12891	blood:	n/a	chr21:17102058-17102069
40	POLR2A	chr21:17101813-17102210	HCT-116	colon:	n/a	n/a
41	POLR2A	chr21:17101818-17102198	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr21:17101824-17103100	HL-60	blood:	n/a	n/a
43	POLR2A	chr21:17101867-17102740	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr21:17101915-17102903	HepG2	liver:	n/a	n/a
45	ZNF263	chr21:17101558-17104298	HEK293-T-REx	kidney:	n/a	chr21:17102283-17102292 chr21:17102862-17102871
46	POLR2A	chr21:17101770-17103147	Hela-S3	cervix:	n/a	n/a
47	SMC3	chr21:17101434-17103257	Hela-S3	cervix:	n/a	chr21:17102880-17102890
48	ETS1	chr21:17101956-17102199	K562	blood:	n/a	chr21:17102130-17102143
49	MYC	chr21:17101663-17102749	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr21:17101738-17103101	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:17101987-17102037	HUVEC	blood vessel:	n/a
2	chr21:17101987-17102037	SAEC	small airway:	n/a
3	chr21:17101987-17102037	HRE	kidney:	n/a
4	chr21:17101987-17102037	Hela-S3	cervix:	n/a
5	chr21:17101987-17102037	Hepatocyte	liver:	n/a
6	chr21:17101987-17102037	PANC-1	pancreas:	n/a
7	chr21:17101987-17102037	AG04450	lung:	fetal
8	chr21:17101987-17102037	HCPEpiC	choroid plexus:	n/a
9	chr21:17101987-17102037	K562	blood:	n/a
10	chr21:17101987-17102037	NH-A	brain:	n/a
11	chr21:17101987-17102037	HNPCEpiC	eye:	n/a
12	chr21:17101987-17102037	HRPEpiC	eye:	n/a
13	chr21:17101987-17102037	SKMC	muscle:	n/a
14	chr21:17101987-17102037	BE2_C	brain:	n/a
15	chr21:17101987-17102037	Jurkat	blood:	n/a
16	chr21:17101987-17102037	U87	brain:	n/a
17	chr21:17101987-17102037	GM12878	blood:	n/a
18	chr21:17101987-17102037	NHDF-neo	bronchial:	n/a
19	chr21:17101987-17102037	HPAEpiC	pulmonary alveolar:	n/a
20	chr21:17101987-17102037	BJ	skin:	n/a
21	chr21:17101987-17102037	T-47D	breast:	n/a
22	chr21:17101987-17102037	HepG2	liver:	n/a
23	chr21:17101987-17102037	ECC-1	luminal epithelium:	n/a
24	chr21:17101987-17102037	GM06990	blood:	n/a
25	chr21:17101987-17102037	MCF10A-Er-Src	breast:	n/a
26	chr21:17101987-17102037	LNCaP	prostate:	n/a
27	chr21:17101987-17102037	HCT-116	colon:	n/a
28	chr21:17101987-17102037	SK-N-SH	brain:	n/a
29	chr21:17101987-17102037	PrEC	prostate:	n/a
30	chr21:17101987-17102037	AG04449	skin:	fetal
31	chr21:17101987-17102037	AoSMC	blood vessel:	n/a
32	chr21:17101987-17102037	HCF	heart:	n/a
33	chr21:17101987-17102037	PFSK-1	brain:	n/a
34	chr21:17101987-17102037	SK-N-MC	brain:	n/a
35	chr21:17101987-17102037	H1-hESC	embryonic stem cell:	embryo
36	chr21:17101987-17102037	HCM	heart:	n/a
37	chr21:17101987-17102037	ovcar-3	ovarian:	n/a
38	chr21:17101987-17102037	NHBE	bronchial:	n/a
39	chr21:17101987-17102037	HAEpiC	amniotic membrane:	n/a
40	chr21:17101987-17102037	AG09309	skin:	n/a
41	chr21:17101987-17102037	AG10803	skin:	n/a
42	chr21:17101987-17102037	NB4	blood:	n/a
43	chr21:17101987-17102037	NT2-D1	testis:	n/a
44	chr21:17101987-17102037	IMR90	lung:	fetal
45	chr21:17101987-17102037	GM12891	blood:	n/a
46	chr21:17101987-17102037	Caco-2	colon:	n/a
47	chr21:17101987-17102037	GM12892	blood:	n/a
48	chr21:17101987-17102037	A549	lung:	n/a
49	chr21:17101987-17102037	HIPEpiC	eye:	n/a
50	chr21:17101987-17102037	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr21:17101236..17104015-chr21:17196099..17198458,3	MCF-7	breast:
2	chr21:17099652..17105374-chr21:17196149..17200245,6	MCF-7	breast:
3	chr21:17064915..17067118-chr21:17101217..17104804,3	MCF-7	breast:
4	chr2:232478261..232479144-chr21:17101783..17102307,2	Hela-S3	cervix:
5	chr21:17079550..17081634-chr21:17101174..17103507,3	MCF-7	breast:

No data

Variant related genes	Relation type
USP25	TF binding region
USP25	CpG island
ENSG00000155313	Chromatin interaction
ENSG00000238591	Chromatin interaction
ENSG00000221497	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv2830057	chr21:16960590-17113148	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	esv3323481	chr21:17101106-17103654	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
10	esv3429322	chr21:17101431-17103829	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17101400-17102000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:17101400-17102000	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr21:17101400-17102800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr21:17101400-17103400	Active TSS	Duodenum Mucosa	Duodenum
5	chr21:17101400-17103600	Active TSS	Brain Cingulate Gyrus	brain
6	chr21:17101400-17104000	Active TSS	Brain Anterior Caudate	brain
7	chr21:17101400-17104000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr21:17101600-17102000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr21:17101600-17102000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr21:17101600-17102000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr21:17101600-17102000	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr21:17101600-17102000	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr21:17101600-17102000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr21:17101600-17102000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr21:17101600-17102000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr21:17101600-17102000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr21:17101600-17102000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr21:17101600-17102000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr21:17101600-17102000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr21:17101600-17102000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr21:17101600-17102000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr21:17101600-17102000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:17101600-17102000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr21:17101600-17102000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr21:17101600-17102000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr21:17101600-17102000	Flanking Active TSS	Liver	Liver
27	chr21:17101600-17102000	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr21:17101600-17102000	Active TSS	Right Atrium	heart
29	chr21:17101600-17102000	Flanking Bivalent TSS/Enh	Dnd41	blood
30	chr21:17101600-17102000	Flanking Bivalent TSS/Enh	HepG2	liver
31	chr21:17101600-17102000	Flanking Active TSS	HSMMtube	muscle
32	chr21:17101600-17102000	Flanking Active TSS	HUVEC	blood vessel
33	chr21:17101600-17102000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr21:17101600-17102000	Flanking Active TSS	NH-A	brain
35	chr21:17101600-17102000	Flanking Active TSS	NHEK	skin
36	chr21:17101600-17102000	Flanking Active TSS	NHLF	lung
37	chr21:17101600-17102200	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr21:17101600-17102400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr21:17101600-17103400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr21:17101600-17103400	Active TSS	Brain Hippocampus Middle	brain
41	chr21:17101600-17103400	Active TSS	Fetal Brain Female	brain
42	chr21:17101600-17103400	Active TSS	Fetal Lung	lung
43	chr21:17101600-17103600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr21:17101600-17103600	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr21:17101600-17103600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr21:17101600-17103600	Active TSS	Brain Germinal Matrix	brain
47	chr21:17101600-17103600	Active TSS	Brain Substantia Nigra	brain
48	chr21:17101600-17103600	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr21:17101600-17103600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr21:17101600-17104000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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