Variant report

Variant	esv3422514
Chromosome Location	chr21:45632069-45632194
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	ATF2	chr21:45631647-45632775	GM12878	blood:	n/a	n/a
2	BCL3	chr21:45631415-45632600	GM12878	blood:	n/a	n/a
3	BCL3	chr21:45631471-45632171	GM12878	blood:	n/a	n/a
4	BCLAF1	chr21:45631717-45632370	GM12878	blood:	n/a	n/a
5	BCLAF1	chr21:45631987-45632771	GM12878	blood:	n/a	chr21:45632621-45632630
6	BRCA1	chr21:45631582-45632400	GM12878	blood:	n/a	n/a
7	CEBPB	chr21:45631340-45632716	GM12878	blood:	n/a	chr21:45632695-45632706
8	CHD2	chr21:45631840-45632356	GM12878	blood:	n/a	n/a
9	CUX1	chr21:45632162-45632614	GM12878	blood:	n/a	n/a
10	EBF1	chr21:45632187-45632726	GM12878	blood:	n/a	chr21:45632556-45632565 chr21:45632543-45632554 chr21:45632554-45632567 chr21:45632556-45632566 chr21:45632556-45632565
11	EBF1	chr21:45632037-45632676	GM12878	blood:	n/a	chr21:45632556-45632565 chr21:45632543-45632554 chr21:45632554-45632567 chr21:45632556-45632566 chr21:45632556-45632565
12	ELK1	chr21:45631870-45632204	GM12878	blood:	n/a	n/a
13	EP300	chr21:45632018-45632559	GM12878	blood:	n/a	n/a
14	EP300	chr21:45631827-45632780	GM12878	blood:	n/a	n/a
15	EP300	chr21:45632096-45632663	GM12878	blood:	n/a	n/a
16	FOXM1	chr21:45631917-45632710	GM12878	blood:	n/a	n/a
17	FOXM1	chr21:45631470-45632717	GM12878	blood:	n/a	n/a
18	IKZF1	chr21:45631772-45632545	GM12878	blood:	n/a	n/a
19	IRF4	chr21:45631588-45632456	GM12878	blood:	n/a	n/a
20	IRF4	chr21:45631633-45632359	GM12878	blood:	n/a	n/a
21	MAZ	chr21:45631996-45632621	GM12878	blood:	n/a	n/a
22	MEF2A	chr21:45631866-45632654	GM12878	blood:	n/a	chr21:45632396-45632417 chr21:45632403-45632412 chr21:45632400-45632415 chr21:45632396-45632417 chr21:45632401-45632415 chr21:45632402-45632413
23	MEF2A	chr21:45631868-45632737	GM12878	blood:	n/a	chr21:45632396-45632417 chr21:45632403-45632412 chr21:45632400-45632415 chr21:45632396-45632417 chr21:45632401-45632415 chr21:45632402-45632413
24	MEF2C	chr21:45632044-45632742	GM12878	blood:	n/a	chr21:45632396-45632417 chr21:45632403-45632412 chr21:45632400-45632415 chr21:45632396-45632417 chr21:45632401-45632415 chr21:45632402-45632413 chr21:45632399-45632414
25	MTA3	chr21:45631286-45632665	GM12878	blood:	n/a	n/a
26	MTA3	chr21:45631300-45632895	GM12878	blood:	n/a	n/a
27	NFATC1	chr21:45631419-45632634	GM12878	blood:	n/a	n/a
28	NFATC1	chr21:45631303-45632413	GM12878	blood:	n/a	n/a
29	NFIC	chr21:45632114-45632793	GM12878	blood:	n/a	n/a
30	NFIC	chr21:45631339-45632774	GM12878	blood:	n/a	n/a
31	PBX3	chr21:45631483-45632114	GM12878	blood:	n/a	n/a
32	PML	chr21:45631344-45632752	GM12878	blood:	n/a	n/a
33	POLR2A	chr21:45631388-45632456	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr21:45631423-45632366	GM12892	blood:	n/a	n/a
35	RCOR1	chr21:45631767-45632498	GM12878	blood:	n/a	n/a
36	RELA	chr21:45631827-45632756	GM12878	blood:	n/a	chr21:45632449-45632458 chr21:45632449-45632458
37	RELA	chr21:45632180-45632645	GM18526	blood:	n/a	chr21:45632449-45632458 chr21:45632449-45632458
38	RELA	chr21:45632056-45632648	GM18951	blood:	n/a	chr21:45632449-45632458 chr21:45632449-45632458
39	RELA	chr21:45632024-45632718	GM10847	blood:	n/a	chr21:45632449-45632458 chr21:45632449-45632458
40	RELA	chr21:45631970-45632766	GM19099	blood:	n/a	chr21:45632449-45632458 chr21:45632449-45632458
41	RELA	chr21:45631818-45632688	GM18505	blood:	n/a	chr21:45632449-45632458 chr21:45632449-45632458
42	RELA	chr21:45632124-45632724	GM12891	blood:	n/a	chr21:45632449-45632458 chr21:45632449-45632458
43	RELA	chr21:45632025-45632692	GM12892	blood:	n/a	chr21:45632449-45632458 chr21:45632449-45632458
44	RUNX3	chr21:45631339-45632728	GM12878	blood:	n/a	n/a
45	RUNX3	chr21:45631295-45632664	GM12878	blood:	n/a	n/a
46	SMC3	chr21:45631814-45632519	GM12878	blood:	n/a	n/a
47	STAT3	chr21:45631755-45632416	GM12878	blood:	n/a	n/a
48	STAT5A	chr21:45631399-45632584	GM12878	blood:	n/a	chr21:45631485-45631494 chr21:45631486-45631495
49	STAT5A	chr21:45631277-45632848	GM12878	blood:	n/a	chr21:45631485-45631494 chr21:45631486-45631495
50	TBL1XR1	chr21:45631858-45632543	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45626963..45630289-chr21:45630866..45636096,6	MCF-7	breast:
2	chr21:45631740..45633911-chr21:45635590..45640208,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232698	TF binding region
ENSG00000232698	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368914757	chr21:45632075-45632076	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576250263	chr21:45632081-45632082	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200938281	chr21:45632082-45632083	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs67779553	chr21:45632083-45632084	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374483363	chr21:45632084-45632085	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543618184	chr21:45632102-45632103	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562415645	chr21:45632114-45632115	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs539910319	chr21:45632117-45632118	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs117946025	chr21:45632120-45632121	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201455826	chr21:45632128-45632129	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113405596	chr21:45632146-45632147	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181052425	chr21:45632161-45632162	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543762923	chr21:45632179-45632180	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377070553	chr21:45632181-45632182	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs533350282	chr21:45632187-45632188	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs386819117	chr21:45632193-45632194	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 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
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
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
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Down syndrome	21154855	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45627800-45636600	Enhancers	Primary B cells from peripheral blood	blood
2	chr21:45628400-45632400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr21:45628600-45632200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr21:45628600-45632400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr21:45628600-45638600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr21:45628600-45639400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:45628600-45659600	Weak transcription	Right Atrium	heart
8	chr21:45628800-45633400	Weak transcription	NHLF	lung
9	chr21:45628800-45646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr21:45629000-45638200	Weak transcription	HMEC	breast
11	chr21:45629200-45635800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr21:45629200-45637600	Weak transcription	Stomach Mucosa	stomach
13	chr21:45629400-45633600	Weak transcription	Esophagus	oesophagus
14	chr21:45629600-45637800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr21:45629600-45638000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr21:45629800-45635000	Weak transcription	Placenta	Placenta
17	chr21:45629800-45635000	Weak transcription	HUVEC	blood vessel
18	chr21:45629800-45636200	Weak transcription	Fetal Muscle Leg	muscle
19	chr21:45631200-45638000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr21:45631400-45632200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr21:45631400-45632600	Enhancers	Fetal Thymus	thymus
22	chr21:45631400-45632800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr21:45631400-45632800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr21:45631400-45633200	Enhancers	Primary B cells from cord blood	blood
25	chr21:45631400-45633400	Enhancers	Primary hematopoietic stem cells	blood
26	chr21:45631400-45633400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:45631600-45632200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr21:45631600-45632200	Enhancers	Gastric	stomach
29	chr21:45631600-45632400	Flanking Active TSS	GM12878-XiMat	blood
30	chr21:45631800-45632200	Enhancers	K562	blood
31	chr21:45631800-45632400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr21:45632000-45632200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr21:45632000-45632200	Enhancers	Fetal Kidney	kidney
34	chr21:45632000-45632400	Enhancers	Primary T cells from cord blood	blood
35	chr21:45632000-45632400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr21:45632000-45632400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr21:45632000-45638000	Weak transcription	Spleen	Spleen

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