Variant report

Variant	esv1424308
Chromosome Location	chr21:45138732-45138739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:378)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr21:45138605-45139005	GM12878	blood:	n/a	n/a
2	ATF3	chr21:45138711-45139487	K562	blood:	n/a	chr21:45138915-45138924
3	BACH1	chr21:45138412-45140005	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr21:45138660-45138850	K562	blood:	n/a	n/a
5	BHLHE40	chr21:45138670-45139969	K562	blood:	n/a	chr21:45139359-45139375
6	BHLHE40	chr21:45138725-45139900	GM12878	blood:	n/a	chr21:45139359-45139375
7	BRCA1	chr21:45138728-45138955	H1-hESC	embryonic stem cell:	n/a	n/a
8	BRCA1	chr21:45138576-45139260	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr21:45138558-45139014	K562	blood:	n/a	n/a
10	CCNT2	chr21:45138345-45140478	K562	blood:	n/a	chr21:45138465-45138474 chr21:45140113-45140122 chr21:45138915-45138924
11	CEBPB	chr21:45138681-45139479	HepG2	liver:	n/a	n/a
12	CEBPD	chr21:45138681-45139404	HepG2	liver:	n/a	n/a
13	CHD1	chr21:45138578-45140930	IMR90	lung:	n/a	chr21:45139547-45139557
14	CHD2	chr21:45138723-45138876	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr21:45138437-45140057	K562	blood:	n/a	chr21:45139547-45139557
16	CHD2	chr21:45138510-45139554	Hela-S3	cervix:	n/a	n/a
17	CREB1	chr21:45138564-45140150	K562	blood:	n/a	n/a
18	CREB1	chr21:45138695-45139517	A549	lung:	n/a	n/a
19	CREB1	chr21:45138518-45140427	HepG2	liver:	n/a	n/a
20	CREB1	chr21:45138638-45140015	GM12878	blood:	n/a	n/a
21	CTCF	chr21:45138680-45138830	GM12870	blood:	n/a	n/a
22	CTCF	chr21:45138563-45139022	K562	blood:	n/a	chr21:45138861-45138874
23	CTCF	chr21:45138694-45138916	GM19240	blood:	n/a	chr21:45138861-45138874
24	CTCF	chr21:45138680-45138830	A549	lung:	n/a	n/a
25	CTCF	chr21:45138680-45138830	GM12866	blood:	n/a	n/a
26	CTCF	chr21:45138700-45138850	GM12871	blood:	n/a	n/a
27	CTCF	chr21:45138720-45138870	K562	blood:	n/a	n/a
28	CTCF	chr21:45138680-45138830	HPF	lung:	n/a	n/a
29	CTCF	chr21:45138730-45138934	A549	lung:	n/a	chr21:45138861-45138874
30	CTCF	chr21:45138680-45138830	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr21:45138720-45138870	HRE	kidney:	n/a	n/a
32	CTCF	chr21:45138720-45138914	MCF-7	breast:	n/a	chr21:45138861-45138874
33	CTCF	chr21:45138622-45138943	GM12892	blood:	n/a	chr21:45138861-45138874
34	CTCF	chr21:45138720-45138870	GM12868	blood:	n/a	n/a
35	CTCF	chr21:45138700-45138850	GM12869	blood:	n/a	n/a
36	CTCF	chr21:45138726-45138891	Hela-S3	cervix:	n/a	chr21:45138861-45138874
37	CTCF	chr21:45138692-45138907	GM10266	blood:	n/a	chr21:45138861-45138874
38	CTCF	chr21:45138730-45138864	LNCaP	prostate:	n/a	n/a
39	CTCF	chr21:45138700-45138850	AG09319	gingival:	n/a	n/a
40	CTCF	chr21:45138682-45138904	Pancreas_OC	pancreas:	n/a	chr21:45138861-45138874
41	CTCF	chr21:45138730-45138904	GM13977	blood:	n/a	chr21:45138861-45138874
42	CTCF	chr21:45138738-45138907	MCF-7	breast:	n/a	chr21:45138861-45138874
43	CTCF	chr21:45138720-45138870	GM12869	blood:	n/a	n/a
44	CTCF	chr21:45138627-45139073	GM12878	blood:	n/a	chr21:45138861-45138874
45	CTCF	chr21:45138720-45138870	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr21:45138699-45138910	HepG2	liver:	n/a	chr21:45138861-45138874
47	CTCF	chr21:45138700-45138850	HAc	cerebellar:	n/a	n/a
48	CTCF	chr21:45138469-45139147	K562	blood:	n/a	chr21:45138861-45138874
49	CTCF	chr21:45138700-45138850	HMEC	breast:	n/a	n/a
50	CTCF	chr21:45138700-45138850	HEEpiC	esophagus:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44527246..44529052-chr21:45137735..45140365,2	K562	blood:
2	chr21:45138000..45143848-chr21:45206375..45212489,9	MCF-7	breast:
3	chr21:45103862..45106671-chr21:45138223..45140782,2	MCF-7	breast:
4	chr21:45137876..45142347-chr21:45194759..45200624,9	MCF-7	breast:
5	chr21:45137509..45139216-chr21:45209353..45211646,2	K562	blood:
6	chr21:45138069..45142004-chr21:45192681..45200004,8	MCF-7	breast:
7	chr21:45136716..45139544-chr3:64006873..64009163,2	MCF-7	breast:
8	chr21:45078168..45080813-chr21:45138258..45142239,4	K562	blood:
9	chr21:45077264..45080546-chr21:45137817..45144125,9	MCF-7	breast:
10	chr12:120727925..120730755-chr21:45138077..45140298,2	MCF-7	breast:
11	chr21:44393615..44395899-chr21:45138113..45140493,2	K562	blood:
12	chr21:45136618..45138870-chr21:45233345..45236189,2	MCF-7	breast:
13	chr21:45137445..45140588-chr21:45195005..45197401,3	K562	blood:
14	chr21:45137354..45140305-chr21:45163614..45165870,3	MCF-7	breast:
15	chr21:45105070..45107899-chr21:45137956..45140399,2	MCF-7	breast:
16	chr21:45138427..45140484-chr21:45209568..45212113,2	K562	blood:
17	chr21:45137459..45139006-chr21:45757903..45760574,2	K562	blood:
18	chr21:45136894..45141532-chr21:45205840..45211872,8	MCF-7	breast:
19	chr17:62501067..62503702-chr21:45138284..45140156,2	MCF-7	breast:
20	chr11:62432398..62433340-chr21:45138648..45139625,2	MCF-7	breast:

No data

Variant related genes	Relation type
PDXK	TF binding region
ENSG00000160207	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000160201	chromatin interactions
ENSG00000206597	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000160214	chromatin interactions
ENSG00000160208	chromatin interactions
ENSG00000160199	chromatin interactions
ENSG00000232969	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000258890	chromatin interactions
ENSG00000160213	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000214756	chromatin interactions
ENSG00000160209	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 100 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67404467	chr21:45138733-45138734	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45138000-45138800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr21:45138000-45139000	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr21:45138000-45139200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr21:45138000-45139800	Active TSS	Brain Hippocampus Middle	brain
5	chr21:45138000-45140000	Active TSS	Rectal Smooth Muscle	rectum
6	chr21:45138000-45140000	Active TSS	Osteobl	bone
7	chr21:45138000-45140400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr21:45138200-45138800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr21:45138200-45138800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr21:45138200-45138800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr21:45138200-45138800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr21:45138200-45138800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr21:45138200-45138800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr21:45138200-45138800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:45138200-45138800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr21:45138200-45138800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
17	chr21:45138200-45138800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr21:45138200-45138800	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr21:45138200-45138800	Flanking Active TSS	HMEC	breast
20	chr21:45138200-45139800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:45138200-45139800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr21:45138200-45139800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr21:45138200-45139800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
24	chr21:45138200-45139800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr21:45138200-45139800	Active TSS	Fetal Brain Female	brain
26	chr21:45138200-45139800	Active TSS	NH-A	brain
27	chr21:45138200-45140000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr21:45138200-45140000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr21:45138200-45140200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr21:45138200-45140200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr21:45138200-45140200	Active TSS	Brain Cingulate Gyrus	brain
32	chr21:45138200-45140200	Active TSS	NHEK	skin
33	chr21:45138200-45140600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr21:45138200-45140600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr21:45138200-45141000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr21:45138400-45138800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr21:45138400-45138800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr21:45138400-45138800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr21:45138400-45139000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr21:45138400-45139000	Enhancers	Fetal Brain Male	brain
41	chr21:45138400-45139000	Flanking Active TSS	Dnd41	blood
42	chr21:45138400-45139200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr21:45138400-45139200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr21:45138400-45139200	Transcr. at gene 5' and 3'	Right Atrium	heart
45	chr21:45138400-45139200	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr21:45138400-45139400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr21:45138400-45139400	Bivalent/Poised TSS	Thymus	Thymus
48	chr21:45138400-45139600	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr21:45138400-45139600	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr21:45138400-45139600	Active TSS	Breast Myoepithelial Primary Cells	Breast

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