Variant report

Variant	nsv979496
Chromosome Location	chr21:17772425-17789214
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	CTCF	chr21:17780220-17780370	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr21:17772460-17772610	NHDF-neo	bronchial:	n/a	n/a
3	EP300	chr21:17780136-17780389	SK-N-SH_RA	brain:	n/a	chr21:17780282-17780296
4	FOS	chr21:17776101-17776160	MCF10A-Er-Src	breast:	n/a	n/a
5	GATA3	chr21:17781765-17782138	MCF-7	breast:	n/a	n/a
6	MAFF	chr21:17788140-17788218	HepG2	liver:	n/a	chr21:17788154-17788172
7	MAFK	chr21:17788047-17788217	HepG2	liver:	n/a	chr21:17788159-17788170 chr21:17788159-17788170 chr21:17788160-17788171 chr21:17788155-17788170 chr21:17788160-17788171 chr21:17788158-17788172
8	MAFK	chr21:17788083-17788217	IMR90	lung:	n/a	chr21:17788159-17788170 chr21:17788159-17788170 chr21:17788160-17788171 chr21:17788155-17788170 chr21:17788160-17788171 chr21:17788158-17788172
9	MAFK	chr21:17788140-17788191	HepG2	liver:	n/a	chr21:17788159-17788170 chr21:17788159-17788170 chr21:17788160-17788171 chr21:17788155-17788170 chr21:17788160-17788171 chr21:17788158-17788172
10	NR2F2	chr21:17781585-17782153	MCF-7	breast:	n/a	n/a
11	POLR2A	chr21:17778247-17778262	Gliobla	brain:	n/a	n/a
12	POLR2A	chr21:17787194-17787392	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr21:17780079-17780606	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr21:17778149-17778230	Gliobla	brain:	n/a	n/a
15	SMC3	chr21:17781197-17781213	HepG2	liver:	n/a	n/a
16	STAT3	chr21:17780251-17780364	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr21:17788650-17788800	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr21:17781187-17781387	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr21:17773890-17773922	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17787241..17789813-chr21:17791382..17794099,2	K562	blood:

Variant related genes	Relation type
LINC00478	TF binding region
ENSG00000215386	chromatin interactions
ENSG00000270139	chromatin interactions

Extended variants
information (count: 758 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:758 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546530171	chr21:17772432-17772433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139219597	chr21:17772466-17772467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11334512	chr21:17772511-17772512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566220394	chr21:17772526-17772527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186398898	chr21:17772544-17772545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74594313	chr21:17772559-17772560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568636688	chr21:17772603-17772604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113303767	chr21:17772635-17772636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557144414	chr21:17772660-17772661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535122638	chr21:17772707-17772708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538437992	chr21:17772718-17772719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10561526	chr21:17772753-17772754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35745608	chr21:17772754-17772755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs398036118	chr21:17772769-17772770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs240487	chr21:17772777-17772778	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs540021871	chr21:17772797-17772798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553431091	chr21:17772800-17772801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191594921	chr21:17772864-17772865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568319996	chr21:17772879-17772880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369304715	chr21:17772908-17772909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182888343	chr21:17772970-17772971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112180599	chr21:17772972-17772973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147921975	chr21:17772973-17772974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4818265	chr21:17772986-17772987	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs533024201	chr21:17772999-17773000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546762746	chr21:17773003-17773004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143781846	chr21:17773022-17773023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529162349	chr21:17773035-17773036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577443556	chr21:17773061-17773062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57650436	chr21:17773062-17773063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188058880	chr21:17773067-17773068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371595213	chr21:17773069-17773070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551110665	chr21:17773078-17773079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571312541	chr21:17773083-17773084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553141771	chr21:17773112-17773113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192515688	chr21:17773121-17773122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182406165	chr21:17773123-17773124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151110207	chr21:17773124-17773125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536121414	chr21:17773128-17773129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141123619	chr21:17773129-17773130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373427989	chr21:17773141-17773142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150190965	chr21:17773161-17773162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544613873	chr21:17773184-17773185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564609781	chr21:17773185-17773186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578035424	chr21:17773189-17773190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61364369	chr21:17773192-17773193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560263360	chr21:17773193-17773194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529186871	chr21:17773195-17773196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369643108	chr21:17773199-17773200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562441777	chr21:17773203-17773204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
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 myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	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
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD
Gastric cancer	18160780	CNVD
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17761600-17780200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:17762000-17775000	Weak transcription	Brain Anterior Caudate	brain
3	chr21:17762400-17775000	Weak transcription	Ovary	ovary
4	chr21:17770000-17775200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr21:17771000-17775400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr21:17771400-17791200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:17772400-17773200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr21:17773200-17774800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr21:17774800-17775400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr21:17775000-17775400	Enhancers	Brain Angular Gyrus	brain
11	chr21:17775000-17775400	Enhancers	Ovary	ovary
12	chr21:17775000-17775600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:17775000-17775600	Enhancers	Brain Anterior Caudate	brain
14	chr21:17775000-17775600	Enhancers	Brain Cingulate Gyrus	brain
15	chr21:17775000-17775600	Enhancers	Brain Substantia Nigra	brain
16	chr21:17775000-17775600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr21:17775000-17775800	Enhancers	Left Ventricle	heart
18	chr21:17775200-17775400	Enhancers	Adipose Nuclei	Adipose
19	chr21:17775200-17775600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr21:17775400-17782200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr21:17775400-17786600	Weak transcription	Ovary	ovary
22	chr21:17775600-17776800	Weak transcription	Adipose Nuclei	Adipose
23	chr21:17775600-17786000	Weak transcription	Brain Anterior Caudate	brain
24	chr21:17775800-17782000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:17776800-17777600	Enhancers	Adipose Nuclei	Adipose
26	chr21:17776800-17778400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:17777000-17777200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr21:17777000-17777600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:17777200-17777600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr21:17777600-17777800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr21:17777600-17778800	Weak transcription	Adipose Nuclei	Adipose
32	chr21:17778200-17780000	Enhancers	Liver	Liver
33	chr21:17778800-17779000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr21:17778800-17779000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr21:17778800-17779000	Enhancers	Adipose Nuclei	Adipose
36	chr21:17778800-17779000	Enhancers	Psoas Muscle	Psoas
37	chr21:17778800-17779000	Enhancers	Right Atrium	heart
38	chr21:17779000-17780200	Weak transcription	Psoas Muscle	Psoas
39	chr21:17779000-17782000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr21:17779200-17780200	Weak transcription	Right Atrium	heart
41	chr21:17780000-17780200	Enhancers	Osteobl	bone
42	chr21:17780000-17780800	Flanking Active TSS	Liver	Liver
43	chr21:17780200-17780400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr21:17780200-17780600	Enhancers	Fetal Heart	heart
45	chr21:17780200-17780600	Enhancers	Psoas Muscle	Psoas
46	chr21:17780200-17780600	Enhancers	Right Atrium	heart
47	chr21:17780200-17780600	Flanking Active TSS	Osteobl	bone
48	chr21:17780200-17781000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr21:17780200-17781200	Enhancers	NH-A	brain
50	chr21:17780400-17781000	Enhancers	Fetal Lung	lung

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