Variant report

Variant	esv3408038
Chromosome Location	chr21:45631780-45632063
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	chr21:45631471-45632171	GM12878	blood:	n/a	n/a
3	BCL3	chr21:45631415-45632600	GM12878	blood:	n/a	n/a
4	BCLAF1	chr21:45631987-45632771	GM12878	blood:	n/a	chr21:45632621-45632630
5	BCLAF1	chr21:45631717-45632370	GM12878	blood:	n/a	n/a
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	EBF1	chr21:45632037-45632676	GM12878	blood:	n/a	chr21:45632556-45632565 chr21:45632543-45632554 chr21:45632554-45632567 chr21:45632556-45632566 chr21:45632556-45632565
10	ELK1	chr21:45631870-45632204	GM12878	blood:	n/a	n/a
11	EP300	chr21:45631827-45632780	GM12878	blood:	n/a	n/a
12	EP300	chr21:45632018-45632559	GM12878	blood:	n/a	n/a
13	FOXM1	chr21:45631917-45632710	GM12878	blood:	n/a	n/a
14	FOXM1	chr21:45631470-45632717	GM12878	blood:	n/a	n/a
15	IKZF1	chr21:45631772-45632545	GM12878	blood:	n/a	n/a
16	IRF4	chr21:45631633-45632359	GM12878	blood:	n/a	n/a
17	IRF4	chr21:45631588-45632456	GM12878	blood:	n/a	n/a
18	MAZ	chr21:45631996-45632621	GM12878	blood:	n/a	n/a
19	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
20	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
21	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
22	MTA3	chr21:45631300-45632895	GM12878	blood:	n/a	n/a
23	MTA3	chr21:45631286-45632665	GM12878	blood:	n/a	n/a
24	NFATC1	chr21:45631303-45632413	GM12878	blood:	n/a	n/a
25	NFATC1	chr21:45631419-45632634	GM12878	blood:	n/a	n/a
26	NFIC	chr21:45631339-45632774	GM12878	blood:	n/a	n/a
27	PBX3	chr21:45631483-45632114	GM12878	blood:	n/a	n/a
28	PML	chr21:45631344-45632752	GM12878	blood:	n/a	n/a
29	POLR2A	chr21:45631953-45632021	GM12878	blood:	n/a	n/a
30	POLR2A	chr21:45631423-45632366	GM12892	blood:	n/a	n/a
31	POLR2A	chr21:45631388-45632456	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr21:45631101-45631932	PFSK-1	brain:	n/a	n/a
33	RCOR1	chr21:45631767-45632498	GM12878	blood:	n/a	n/a
34	RELA	chr21:45632025-45632692	GM12892	blood:	n/a	chr21:45632449-45632458 chr21:45632449-45632458
35	RELA	chr21:45632056-45632648	GM18951	blood:	n/a	chr21:45632449-45632458 chr21:45632449-45632458
36	RELA	chr21:45632024-45632718	GM10847	blood:	n/a	chr21:45632449-45632458 chr21:45632449-45632458
37	RELA	chr21:45631970-45632766	GM19099	blood:	n/a	chr21:45632449-45632458 chr21:45632449-45632458
38	RELA	chr21:45631827-45632756	GM12878	blood:	n/a	chr21:45632449-45632458 chr21:45632449-45632458
39	RELA	chr21:45631818-45632688	GM18505	blood:	n/a	chr21:45632449-45632458 chr21:45632449-45632458
40	RUNX3	chr21:45631295-45632664	GM12878	blood:	n/a	n/a
41	RUNX3	chr21:45631339-45632728	GM12878	blood:	n/a	n/a
42	SMC3	chr21:45631814-45632519	GM12878	blood:	n/a	n/a
43	STAT3	chr21:45631755-45632416	GM12878	blood:	n/a	n/a
44	STAT5A	chr21:45631277-45632848	GM12878	blood:	n/a	chr21:45631485-45631494 chr21:45631486-45631495
45	STAT5A	chr21:45631399-45632584	GM12878	blood:	n/a	chr21:45631485-45631494 chr21:45631486-45631495
46	TBL1XR1	chr21:45631858-45632543	GM12878	blood:	n/a	n/a
47	TBP	chr21:45632002-45632502	GM12878	blood:	n/a	n/a
48	WRNIP1	chr21:45631603-45632331	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45626963..45630289-chr21:45630866..45636096,6	MCF-7	breast:
2	chr21:45631200..45631884-chr4:2306687..2307191,2	MCF-7	breast:
3	chr21:45631740..45633911-chr21:45635590..45640208,4	MCF-7	breast:
4	chr21:45619816..45631884-chr21:45656529..45663802,30	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232698	TF binding region
ENSG00000160223	chromatin interactions
ENSG00000232698	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386819116	chr21:45631782-45631783	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs553837729	chr21:45631839-45631840	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs114535064	chr21:45631850-45631851	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs144599178	chr21:45631854-45631855	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs564378352	chr21:45631881-45631882	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188923662	chr21:45631890-45631891	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs111164045	chr21:45631900-45631901	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562216453	chr21:45631922-45631923	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529303845	chr21:45631923-45631924	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs111174490	chr21:45631939-45631940	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559889538	chr21:45631940-45631941	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533514012	chr21:45631941-45631942	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551896880	chr21:45631948-45631949	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570696466	chr21:45631949-45631950	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549177137	chr21:45631967-45631968	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111167304	chr21:45631984-45631985	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs537624107	chr21:45631991-45631992	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs111167305	chr21:45631996-45631997	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192648086	chr21:45631997-45631998	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183797481	chr21:45632005-45632006	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188512508	chr21:45632007-45632008	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs553851146	chr21:45632013-45632014	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572491135	chr21:45632015-45632016	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs139970832	chr21:45632039-45632040	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372800118	chr21:45632045-45632046	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:44 , 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	chr21:45628600-45631800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr21:45628600-45632000	Weak transcription	Primary T cells from cord blood	blood
5	chr21:45628600-45632000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr21:45628600-45632200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr21:45628600-45632400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr21:45628600-45638600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr21:45628600-45639400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:45628600-45659600	Weak transcription	Right Atrium	heart
11	chr21:45628800-45633400	Weak transcription	NHLF	lung
12	chr21:45628800-45646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr21:45629000-45638200	Weak transcription	HMEC	breast
14	chr21:45629200-45635800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:45629200-45637600	Weak transcription	Stomach Mucosa	stomach
16	chr21:45629400-45631800	Weak transcription	K562	blood
17	chr21:45629400-45633600	Weak transcription	Esophagus	oesophagus
18	chr21:45629600-45632000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr21:45629600-45632000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr21:45629600-45637800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:45629600-45638000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr21:45629800-45635000	Weak transcription	Placenta	Placenta
23	chr21:45629800-45635000	Weak transcription	HUVEC	blood vessel
24	chr21:45629800-45636200	Weak transcription	Fetal Muscle Leg	muscle
25	chr21:45631200-45638000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr21:45631400-45632200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr21:45631400-45632600	Enhancers	Fetal Thymus	thymus
28	chr21:45631400-45632800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr21:45631400-45632800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:45631400-45633200	Enhancers	Primary B cells from cord blood	blood
31	chr21:45631400-45633400	Enhancers	Primary hematopoietic stem cells	blood
32	chr21:45631400-45633400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr21:45631600-45632000	Enhancers	Spleen	Spleen
34	chr21:45631600-45632200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr21:45631600-45632200	Enhancers	Gastric	stomach
36	chr21:45631600-45632400	Flanking Active TSS	GM12878-XiMat	blood
37	chr21:45631800-45632200	Enhancers	K562	blood
38	chr21:45631800-45632400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr21:45632000-45632200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr21:45632000-45632200	Enhancers	Fetal Kidney	kidney
41	chr21:45632000-45632400	Enhancers	Primary T cells from cord blood	blood
42	chr21:45632000-45632400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr21:45632000-45632400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr21:45632000-45638000	Weak transcription	Spleen	Spleen

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