Variant report

Variant	rs534232508
Chromosome Location	chr21:17102110-17102111
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	chr21:17101869-17102212	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	chr21:17102039-17103062	GM12892	blood:	n/a	n/a
5	POLR2A	chr21:17101798-17104031	Hela-S3	cervix:	n/a	n/a
6	MAX	chr21:17101749-17103282	K562	blood:	n/a	n/a
7	ZEB1	chr21:17101864-17102179	GM12878	blood:	n/a	n/a
8	TBL1XR1	chr21:17101892-17102547	K562	blood:	n/a	n/a
9	TAF1	chr21:17101840-17102203	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZNF263	chr21:17101887-17103006	K562	blood:	n/a	chr21:17102283-17102292 chr21:17102862-17102871
11	POLR2A	chr21:17101673-17103285	K562	blood:	n/a	n/a
12	E2F6	chr21:17101929-17102996	K562	blood:	n/a	chr21:17102088-17102102
13	TCF7L2	chr21:17101777-17102523	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	EGR1	chr21:17102041-17102308	GM12878	blood:	n/a	chr21:17102213-17102227 chr21:17102092-17102105 chr21:17102251-17102265 chr21:17102232-17102246
20	POLR2A	chr21:17101844-17104032	GM12891	blood:	n/a	n/a
21	MYC	chr21:17101681-17104363	K562	blood:	n/a	chr21:17104164-17104174 chr21:17104163-17104178 chr21:17104163-17104173
22	MAX	chr21:17101783-17102809	A549	lung:	n/a	n/a
23	TBP	chr21:17101812-17103864	K562	blood:	n/a	n/a
24	MAZ	chr21:17101746-17103209	K562	blood:	n/a	n/a
25	POLR2A	chr21:17101841-17103828	GM12878	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	chr21:17102024-17103823	GM12878	blood:	n/a	n/a

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	chr1:28907941..28908781-chr21:17101990..17102822,2	Hela-S3	cervix:
5	chr2:232478261..232479144-chr21:17101783..17102307,2	Hela-S3	cervix:
6	chr21:17102096..17103087-chrX:134185661..134186938,3	Hela-S3	cervix:
7	chr21:17079550..17081634-chr21:17101174..17103507,3	MCF-7	breast:

Variant related genes	Relation type
USP25	TF binding region
ENSG00000197989	Chromatin interaction
ENSG00000238591	Chromatin interaction
ENSG00000203950	Chromatin interaction
ENSG00000155313	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	chr21:17101400-17102800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr21:17101400-17103400	Active TSS	Duodenum Mucosa	Duodenum
3	chr21:17101400-17103600	Active TSS	Brain Cingulate Gyrus	brain
4	chr21:17101400-17104000	Active TSS	Brain Anterior Caudate	brain
5	chr21:17101400-17104000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr21:17101600-17102200	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr21:17101600-17102400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr21:17101600-17103400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr21:17101600-17103400	Active TSS	Brain Hippocampus Middle	brain
10	chr21:17101600-17103400	Active TSS	Fetal Brain Female	brain
11	chr21:17101600-17103400	Active TSS	Fetal Lung	lung
12	chr21:17101600-17103600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:17101600-17103600	Active TSS	Primary monocytes fromperipheralblood	blood
14	chr21:17101600-17103600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr21:17101600-17103600	Active TSS	Brain Germinal Matrix	brain
16	chr21:17101600-17103600	Active TSS	Brain Substantia Nigra	brain
17	chr21:17101600-17103600	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr21:17101600-17103600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr21:17101600-17104000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr21:17101600-17104200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr21:17101600-17104200	Active TSS	Fetal Intestine Large	intestine
22	chr21:17101600-17104600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr21:17101600-17104600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr21:17101600-17104600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr21:17101600-17104600	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr21:17101600-17104800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr21:17101600-17104800	Active TSS	Colon Smooth Muscle	Colon
28	chr21:17101600-17105000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:17101600-17105000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr21:17101600-17105000	Active TSS	Fetal Intestine Small	intestine
31	chr21:17101600-17105000	Active TSS	NHDF-Ad	bronchial
32	chr21:17101600-17105200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr21:17101600-17105200	Active TSS	Right Ventricle	heart
34	chr21:17101600-17105400	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr21:17101600-17105400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr21:17101600-17105400	Active TSS	Stomach Smooth Muscle	stomach
37	chr21:17101600-17105600	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr21:17101600-17105800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr21:17101600-17105800	Active TSS	K562	blood
40	chr21:17101800-17102200	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr21:17101800-17102200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr21:17101800-17103000	Active TSS	Brain Angular Gyrus	brain
43	chr21:17101800-17103200	Active TSS	Spleen	Spleen
44	chr21:17101800-17103400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr21:17101800-17103400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr21:17101800-17103400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:17101800-17103400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr21:17101800-17103400	Active TSS	Gastric	stomach
49	chr21:17101800-17103600	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr21:17101800-17103800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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