Variant report

Variant	esv1703097
Chromosome Location	chr21:46349764-46349765
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	BATF	chr21:46349669-46350031	GM12878	blood:	n/a	n/a
2	BATF	chr21:46349649-46349996	GM12878	blood:	n/a	n/a
3	BHLHE40	chr21:46349533-46350281	GM12878	blood:	n/a	n/a
4	CHD2	chr21:46349370-46350245	GM12878	blood:	n/a	n/a
5	EBF1	chr21:46349672-46351552	GM12878	blood:	n/a	chr21:46351222-46351233 chr21:46351223-46351232 chr21:46351223-46351232 chr21:46351221-46351234
6	EBF1	chr21:46349081-46351931	GM12878	blood:	n/a	chr21:46351222-46351233 chr21:46351223-46351232 chr21:46351223-46351232 chr21:46351221-46351234
7	ELF1	chr21:46349709-46352433	GM12878	blood:	n/a	chr21:46351065-46351077 chr21:46351566-46351578
8	FOXM1	chr21:46349680-46350095	GM12878	blood:	n/a	n/a
9	IKZF1	chr21:46349641-46350052	GM12878	blood:	n/a	n/a
10	IRF4	chr21:46349394-46350088	GM12878	blood:	n/a	n/a
11	MAX	chr21:46349622-46350091	GM12878	blood:	n/a	chr21:46349715-46349722 chr21:46349713-46349724 chr21:46349990-46350000 chr21:46349714-46349723
12	MAZ	chr21:46349461-46351638	GM12878	blood:	n/a	chr21:46350706-46350715 chr21:46351194-46351204 chr21:46349715-46349722 chr21:46351169-46351179 chr21:46349713-46349724 chr21:46349990-46350000 chr21:46350112-46350122 chr21:46350108-46350118 chr21:46349714-46349723
13	MTA3	chr21:46349056-46351679	GM12878	blood:	n/a	n/a
14	MXI1	chr21:46349567-46349817	GM12878	blood:	n/a	n/a
15	NFIC	chr21:46349133-46350396	GM12878	blood:	n/a	n/a
16	PML	chr21:46348961-46350227	GM12878	blood:	n/a	n/a
17	POLR2A	chr21:46349622-46353037	GM15510	blood:	n/a	n/a
18	POLR2A	chr21:46349281-46350379	GM12878	blood:	n/a	n/a
19	POLR2A	chr21:46349648-46349800	HepG2	liver:	n/a	n/a
20	POLR2A	chr21:46349243-46352888	GM18526	blood:	n/a	n/a
21	POLR2A	chr21:46349652-46349774	MCF-7	breast:	n/a	n/a
22	POLR2A	chr21:46349676-46352025	GM19193	blood:	n/a	n/a
23	POLR2A	chr21:46349053-46353060	GM18951	blood:	n/a	n/a
24	POLR2A	chr21:46346154-46355833	GM19099	blood:	n/a	n/a
25	POLR2A	chr21:46349337-46350022	GM12878	blood:	n/a	n/a
26	POLR2A	chr21:46348892-46353194	GM12878	blood:	n/a	n/a
27	POLR2A	chr21:46349083-46352292	GM12891	blood:	n/a	n/a
28	POLR2A	chr21:46349522-46349813	MCF10A-Er-Src	breast:	n/a	n/a
29	RCOR1	chr21:46347230-46349949	IMR90	lung:	n/a	n/a
30	RCOR1	chr21:46349345-46349815	GM12878	blood:	n/a	n/a
31	RELA	chr21:46349479-46350315	GM19099	blood:	n/a	n/a
32	RELA	chr21:46349482-46351776	GM15510	blood:	n/a	n/a
33	RUNX3	chr21:46349097-46350373	GM12878	blood:	n/a	n/a
34	RUNX3	chr21:46349273-46350520	GM12878	blood:	n/a	n/a
35	SMC3	chr21:46349661-46349975	GM12878	blood:	n/a	n/a
36	STAT1	chr21:46349617-46350153	GM12878	blood:	n/a	chr21:46349986-46349998 chr21:46350114-46350126 chr21:46350113-46350125
37	STAT3	chr21:46349374-46349881	GM12878	blood:	n/a	n/a
38	STAT5A	chr21:46349418-46350117	GM12878	blood:	n/a	chr21:46349986-46349998
39	TBL1XR1	chr21:46349356-46350324	GM12878	blood:	n/a	n/a
40	TBP	chr21:46349481-46349841	GM12878	blood:	n/a	n/a
41	USF2	chr21:46349555-46349879	GM12878	blood:	n/a	n/a
42	ZNF143	chr21:46349709-46350387	GM12878	blood:	n/a	chr21:46350068-46350086

No.	Distal block	Cell Line	Cell type
1	chr21:46349055..46351032-chr21:46493561..46495184,2	MCF-7	breast:
2	chr21:46235954..46239342-chr21:46346367..46350296,5	K562	blood:
3	chr21:46348891..46351856-chr21:46356275..46360285,3	K562	blood:
4	chr21:46288744..46296879-chr21:46346201..46354260,26	MCF-7	breast:
5	chr21:46348334..46352514-chr21:46492914..46497675,5	K562	blood:
6	chr21:46345821..46352717-chr21:46492682..46495835,7	MCF-7	breast:
7	chr21:46220228..46226309-chr21:46349546..46355767,8	K562	blood:
8	chr21:46220263..46223201-chr21:46349640..46352735,4	K562	blood:
9	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf67-7	chr21:46349568-46350027	ENSG00000273027.1

Variant related genes	Relation type
ITGB2	TF binding region
ENSG00000268856	chromatin interactions
ENSG00000183255	chromatin interactions
ENSG00000160256	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000183250	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	rs35374645	chr21:46349765-46349766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 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
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
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46340600-46351400	Weak transcription	Right Atrium	heart
2	chr21:46344400-46349800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:46345600-46351200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr21:46346000-46352000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr21:46346200-46352200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr21:46347000-46351800	Enhancers	Spleen	Spleen
7	chr21:46348200-46351000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:46348200-46351200	Enhancers	Primary hematopoietic stem cells	blood
9	chr21:46348200-46351400	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr21:46348400-46350200	Enhancers	Dnd41	blood
11	chr21:46348400-46350600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:46348400-46350800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr21:46348400-46351000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr21:46348600-46349800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:46348600-46350000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr21:46348600-46350400	Enhancers	HMEC	breast
17	chr21:46348600-46350600	Enhancers	Primary B cells from peripheral blood	blood
18	chr21:46348600-46350600	Enhancers	Thymus	Thymus
19	chr21:46348600-46350800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr21:46348800-46349800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr21:46348800-46350200	Enhancers	Primary B cells from cord blood	blood
22	chr21:46349000-46349800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
23	chr21:46349000-46350200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr21:46349000-46351800	Flanking Active TSS	GM12878-XiMat	blood
25	chr21:46349200-46349800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr21:46349200-46350000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr21:46349200-46350200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr21:46349200-46350600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr21:46349200-46351200	Weak transcription	A549	lung
30	chr21:46349400-46350000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr21:46349400-46350200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr21:46349400-46350200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr21:46349400-46350200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr21:46349400-46350200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr21:46349400-46350200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr21:46349400-46350200	Enhancers	Fetal Thymus	thymus
37	chr21:46349400-46350600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr21:46349400-46350600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr21:46349400-46350600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr21:46349400-46350800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr21:46349400-46350800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr21:46349400-46351000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr21:46349400-46351000	Enhancers	HSMM	muscle
44	chr21:46349400-46351600	Bivalent Enhancer	NHEK	skin
45	chr21:46349600-46350000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr21:46349600-46350000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr21:46349600-46350000	Weak transcription	Liver	Liver
48	chr21:46349600-46350200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
49	chr21:46349600-46350200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr21:46349600-46350400	Flanking Active TSS	HepG2	liver

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