Variant report

Variant	esv1668086
Chromosome Location	chr21:45148531-45148533
allele	n/a
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	ARID3A	chr21:45148259-45148806	K562	blood:	n/a	n/a
2	ATF1	chr21:45148262-45148872	K562	blood:	n/a	n/a
3	ATF2	chr21:45148520-45148802	GM12878	blood:	n/a	n/a
4	ATF2	chr21:45148223-45148920	GM12878	blood:	n/a	n/a
5	ATF2	chr21:45148457-45148916	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr21:45148518-45148902	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr21:45148013-45148760	K562	blood:	n/a	chr21:45148190-45148199
8	ATF3	chr21:45148175-45148679	A549	lung:	n/a	chr21:45148190-45148199
9	ATF3	chr21:45148027-45148828	K562	blood:	n/a	chr21:45148190-45148199
10	BACH1	chr21:45148326-45148831	K562	blood:	n/a	n/a
11	BACH1	chr21:45148278-45148817	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr21:45148259-45148908	GM12878	blood:	n/a	chr21:45148407-45148417
13	BCL11A	chr21:45148279-45148902	GM12878	blood:	n/a	chr21:45148448-45148461
14	BCL3	chr21:45148135-45148842	A549	lung:	n/a	chr21:45148448-45148461
15	BCL3	chr21:45148120-45148907	K562	blood:	n/a	chr21:45148448-45148461
16	BCL3	chr21:45148149-45148722	A549	lung:	n/a	chr21:45148448-45148461
17	BCLAF1	chr21:45148295-45149208	GM12878	blood:	n/a	chr21:45148987-45148996 chr21:45148979-45148992 chr21:45148448-45148461 chr21:45148948-45148961
18	BCLAF1	chr21:45148262-45148905	GM12878	blood:	n/a	chr21:45148448-45148461
19	BCLAF1	chr21:45148184-45148920	K562	blood:	n/a	chr21:45148448-45148461
20	BCLAF1	chr21:45148158-45148944	K562	blood:	n/a	chr21:45148448-45148461
21	BHLHE40	chr21:45148370-45148671	HepG2	liver:	n/a	n/a
22	BHLHE40	chr21:45148353-45148816	A549	lung:	n/a	n/a
23	BHLHE40	chr21:45147457-45148845	HepG2	liver:	n/a	chr21:45147869-45147885
24	BHLHE40	chr21:45148292-45148907	GM12878	blood:	n/a	n/a
25	BHLHE40	chr21:45147809-45148944	K562	blood:	n/a	chr21:45147869-45147885
26	BRCA1	chr21:45148443-45148731	HepG2	liver:	n/a	n/a
27	BRCA1	chr21:45148295-45148618	Hela-S3	cervix:	n/a	n/a
28	CBX3	chr21:45148068-45148959	K562	blood:	n/a	n/a
29	CBX3	chr21:45148312-45148840	K562	blood:	n/a	n/a
30	CCNT2	chr21:45147842-45149247	K562	blood:	n/a	chr21:45147962-45147971
31	CEBPB	chr21:45148148-45148813	IMR90	lung:	n/a	n/a
32	CEBPB	chr21:45148215-45148806	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr21:45148384-45149001	GM12878	blood:	n/a	n/a
34	CEBPB	chr21:45148135-45148739	K562	blood:	n/a	n/a
35	CEBPB	chr21:45148108-45148838	A549	lung:	n/a	n/a
36	CEBPB	chr21:45148145-45148838	K562	blood:	n/a	n/a
37	CEBPB	chr21:45147559-45148580	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr21:45148184-45148606	A549	lung:	n/a	n/a
39	CEBPD	chr21:45148442-45148951	HepG2	liver:	n/a	n/a
40	CEBPD	chr21:45148191-45148907	K562	blood:	n/a	n/a
41	CHD1	chr21:45148313-45148727	GM12878	blood:	n/a	n/a
42	CHD2	chr21:45148423-45149000	HepG2	liver:	n/a	n/a
43	CHD2	chr21:45148254-45148990	GM12878	blood:	n/a	n/a
44	CHD2	chr21:45148217-45148677	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr21:45147833-45149135	K562	blood:	n/a	n/a
46	CHD2	chr21:45148493-45148908	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr21:45148199-45149134	GM12878	blood:	n/a	n/a
48	CREB1	chr21:45148157-45148865	A549	lung:	n/a	n/a
49	CREB1	chr21:45148037-45149065	K562	blood:	n/a	n/a
50	CREB1	chr21:45148254-45149034	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45145345..45148604-chr21:45164623..45167520,3	MCF-7	breast:
2	chr21:45138878..45139799-chr21:45148124..45149007,3	K562	blood:
3	chr21:45147195..45149472-chr21:45196303..45198972,2	K562	blood:
4	chr21:45146427..45148749-chr21:45209148..45210811,2	K562	blood:
5	chr21:44297829..44300678-chr21:45147311..45150231,2	K562	blood:
6	chr21:45147353..45150091-chr21:45163613..45167274,4	K562	blood:
7	chr21:45146930..45150669-chr21:45163613..45169103,5	K562	blood:

Variant related genes	Relation type
PDXK	TF binding region
ENSG00000160214	chromatin interactions
ENSG00000160213	chromatin interactions
ENSG00000160209	chromatin interactions
ENSG00000160193	chromatin interactions
ENSG00000160194	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	rs397745972	chr21:45148532-45148533	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 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	chr21:45141200-45148600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:45144000-45148800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:45145200-45149400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr21:45145200-45149600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr21:45145600-45148600	Enhancers	Stomach Mucosa	stomach
6	chr21:45145600-45148800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr21:45146000-45163600	Weak transcription	Dnd41	blood
8	chr21:45146600-45148800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr21:45146600-45148800	Flanking Active TSS	Hela-S3	cervix
10	chr21:45146600-45149400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:45146600-45149400	Enhancers	Small Intestine	intestine
12	chr21:45146600-45149600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr21:45146600-45149600	Enhancers	Gastric	stomach
14	chr21:45146800-45149400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr21:45146800-45149600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr21:45147000-45148800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr21:45147000-45149200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr21:45147400-45148600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr21:45147400-45148800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr21:45147400-45149600	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr21:45147400-45149600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr21:45147400-45149600	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr21:45147600-45148600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:45147600-45149200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr21:45147800-45148600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr21:45147800-45148800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr21:45147800-45148800	Flanking Active TSS	Spleen	Spleen
28	chr21:45147800-45149000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr21:45147800-45149200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr21:45147800-45149400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr21:45147800-45149400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr21:45147800-45149600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
33	chr21:45148000-45148600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr21:45148000-45148600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr21:45148000-45148600	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr21:45148000-45148600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr21:45148000-45148600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr21:45148000-45148600	Flanking Active TSS	Fetal Stomach	stomach
39	chr21:45148000-45148800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr21:45148000-45148800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr21:45148000-45148800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr21:45148000-45148800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr21:45148000-45148800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr21:45148000-45149200	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr21:45148000-45149200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr21:45148000-45149200	Flanking Active TSS	Fetal Muscle Trunk	muscle
47	chr21:45148000-45149400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr21:45148000-45149400	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr21:45148000-45149600	Active TSS	H9 Cell Line	embryonic stem cell
50	chr21:45148000-45149600	Active TSS	iPS-15b Cell Line	embryonic stem cell

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