Variant report

Variant	nsv187099
Chromosome Location	chr21:45563820-45563843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45561158..45563910-chr21:45754064..45756114,2	MCF-7	breast:
2	chr21:45561449..45563944-chr21:45751918..45754914,2	MCF-7	breast:
3	chr21:45563341..45565212-chr21:45757835..45760498,2	K562	blood:
4	chr21:45562399..45565041-chr21:45724395..45727249,4	MCF-7	breast:
5	chr21:45561666..45566481-chr21:45577816..45581808,5	K562	blood:
6	chr21:45561900..45564037-chr21:45757541..45759280,2	K562	blood:
7	chr21:45559963..45564053-chr21:45709027..45711326,3	K562	blood:
8	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
9	chr21:45561211..45563917-chr21:45703953..45706433,2	K562	blood:
10	chr21:45563266..45565088-chr21:45597174..45599773,2	K562	blood:
11	chr21:45413538..45417421-chr21:45563044..45566344,3	K562	blood:
12	chr21:45563215..45565745-chr21:45586840..45589212,2	K562	blood:
13	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
14	chr21:45557511..45570034-chr21:45715093..45723808,43	MCF-7	breast:
15	chr21:45562553..45564836-chr21:45708055..45710827,3	K562	blood:
16	chr21:45563732..45566679-chr21:45757601..45760870,4	MCF-7	breast:
17	chr21:45560677..45566873-chr21:45750837..45755413,8	K562	blood:
18	chr21:45563311..45566975-chr21:45753410..45757143,4	K562	blood:
19	chr21:45561454..45564242-chr21:45746295..45748408,3	K562	blood:
20	chr21:45561393..45564285-chr21:45746908..45749087,3	K562	blood:
21	chr21:45561894..45565955-chr21:45571282..45575871,6	MCF-7	breast:
22	chr21:45550802..45552649-chr21:45562821..45564566,2	MCF-7	breast:
23	chr21:45553243..45556111-chr21:45562245..45564360,2	MCF-7	breast:
24	chr21:45488029..45489681-chr21:45562055..45564999,2	K562	blood:
25	chr21:45530458..45534134-chr21:45563477..45567094,3	MCF-7	breast:
26	chr21:45562379..45565148-chr21:45710320..45713823,3	MCF-7	breast:
27	chr21:45563303..45565530-chr21:45749263..45750812,2	K562	blood:
28	chr21:45557962..45571522-chr21:45714618..45733273,43	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160224	chromatin interactions
ENSG00000255902	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000232969	chromatin interactions
ENSG00000252606	chromatin interactions
ENSG00000241728	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000184441	chromatin interactions
ENSG00000225331	chromatin interactions
ENSG00000160221	chromatin interactions

Extended variants
information (count: 4 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6147530	chr21:45563820-45563821	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs2838493	chr21:45563826-45563827	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs549105396	chr21:45563831-45563832	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs369038094	chr21:45563835-45563836	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45558000-45566200	Enhancers	Left Ventricle	heart
2	chr21:45558200-45573000	Weak transcription	NH-A	brain
3	chr21:45559400-45565400	Enhancers	Fetal Lung	lung
4	chr21:45559600-45564600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:45559600-45564600	Genic enhancers	Fetal Intestine Small	intestine
6	chr21:45559600-45572800	Weak transcription	Hela-S3	cervix
7	chr21:45559600-45573000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr21:45559600-45573000	Weak transcription	HMEC	breast
9	chr21:45559800-45564000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr21:45559800-45564400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:45559800-45566800	Weak transcription	HepG2	liver
12	chr21:45559800-45567000	Weak transcription	Osteobl	bone
13	chr21:45560000-45568600	Enhancers	Primary hematopoietic stem cells	blood
14	chr21:45560200-45565800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr21:45560200-45567200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:45560400-45564000	Weak transcription	Brain Anterior Caudate	brain
17	chr21:45560400-45564800	Enhancers	Right Atrium	heart
18	chr21:45560400-45565800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr21:45560400-45573200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:45560600-45565000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr21:45560800-45564200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr21:45560800-45564400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr21:45560800-45568400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr21:45561000-45564200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr21:45561000-45565000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:45561000-45566400	Weak transcription	Gastric	stomach
27	chr21:45561000-45567400	Enhancers	Esophagus	oesophagus
28	chr21:45561000-45573000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr21:45561000-45584400	Weak transcription	Aorta	Aorta
30	chr21:45561200-45564000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr21:45561200-45564200	Enhancers	Colonic Mucosa	Colon
32	chr21:45561200-45564200	Enhancers	Fetal Thymus	thymus
33	chr21:45561200-45564200	Weak transcription	NHEK	skin
34	chr21:45561200-45564400	Enhancers	Primary B cells from cord blood	blood
35	chr21:45561200-45564400	Weak transcription	HSMM	muscle
36	chr21:45561200-45567000	Weak transcription	Dnd41	blood
37	chr21:45561200-45567600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr21:45561200-45574200	Weak transcription	Fetal Brain Female	brain
39	chr21:45561400-45564000	Weak transcription	A549	lung
40	chr21:45561400-45564000	Weak transcription	K562	blood
41	chr21:45561400-45564600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr21:45561400-45565200	Weak transcription	Fetal Kidney	kidney
43	chr21:45561400-45566000	Weak transcription	Fetal Intestine Large	intestine
44	chr21:45561400-45567400	Enhancers	Adipose Nuclei	Adipose
45	chr21:45561400-45573000	Weak transcription	Small Intestine	intestine
46	chr21:45561600-45564200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr21:45561600-45564600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr21:45561600-45565800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr21:45561600-45568200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr21:45561800-45565200	Weak transcription	Stomach Mucosa	stomach

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