Variant report

Variant	nsv828912
Chromosome Location	chr21:45888085-45894918
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr21:45889439-45889515	A549	lung:	n/a	n/a
2	CEBPB	chr21:45889437-45889606	IMR90	lung:	n/a	n/a
3	CTCF	chr21:45891433-45891447	Kidney_OC	kidney:	n/a	n/a
4	EGR1	chr21:45894673-45894888	K562	blood:	n/a	n/a
5	POLR2A	chr21:45891855-45892392	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr21:45891939-45892287	H1-neurons	neurons:	n/a	n/a
7	REST	chr21:45891939-45892316	H1-neurons	neurons:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45876142..45878920-chr21:45886862..45888726,2	MCF-7	breast:
2	chr21:45890106..45891738-chr21:45894143..45896627,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC3-4	chr21:45893494-45893622	NONHSAT082531
2	lnc-LRRC3-4	chr21:45892778-45893130	NONHSAT082531

No data

Variant related genes	Relation type
MTND6P21	TF binding region
ENSG00000224747	TF binding region
ENSG00000227999	chromatin interactions

Extended variants
information (count: 269 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115509366	chr21:45888142-45888143	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2838565	chr21:45888143-45888144	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs537853114	chr21:45888218-45888219	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556480528	chr21:45888219-45888220	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112346329	chr21:45888249-45888250	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575564068	chr21:45888281-45888282	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574851410	chr21:45888303-45888304	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144152377	chr21:45888326-45888327	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56144294	chr21:45888365-45888366	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56056471	chr21:45888366-45888367	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78387126	chr21:45888376-45888377	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79384837	chr21:45888378-45888379	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77777659	chr21:45888381-45888382	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141439279	chr21:45888386-45888387	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9680452	chr21:45888387-45888388	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9680157	chr21:45888407-45888408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73910008	chr21:45888413-45888414	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs116914965	chr21:45888415-45888416	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540572331	chr21:45888426-45888427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9984036	chr21:45888428-45888429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577022913	chr21:45888429-45888430	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543876669	chr21:45888444-45888445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190892073	chr21:45888453-45888454	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529761253	chr21:45888461-45888462	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369045130	chr21:45888471-45888472	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541504399	chr21:45888485-45888486	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557876164	chr21:45888489-45888490	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560349354	chr21:45888491-45888492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527875993	chr21:45888505-45888506	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4818926	chr21:45888506-45888507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552691235	chr21:45888576-45888577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2838566	chr21:45888582-45888583	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184184315	chr21:45888631-45888632	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11293262	chr21:45888642-45888643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76073056	chr21:45888643-45888644	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549926058	chr21:45888679-45888680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564089543	chr21:45888713-45888714	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1075223	chr21:45888716-45888717	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185866320	chr21:45888738-45888739	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575643123	chr21:45888838-45888839	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533981605	chr21:45888858-45888859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs8132880	chr21:45888885-45888886	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs2329816	chr21:45888893-45888894	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563280198	chr21:45888906-45888907	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117176015	chr21:45888914-45888915	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146593814	chr21:45888923-45888924	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559819135	chr21:45888932-45888933	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12627542	chr21:45888962-45888963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12627543	chr21:45888968-45888969	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527343499	chr21:45888992-45888993	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45878200-45890400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr21:45881800-45911800	Weak transcription	Right Atrium	heart
3	chr21:45883000-45897200	Weak transcription	Fetal Brain Female	brain
4	chr21:45884000-45897200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr21:45884400-45896400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr21:45884400-45898600	Weak transcription	Fetal Intestine Small	intestine
7	chr21:45886600-45890200	Weak transcription	Spleen	Spleen
8	chr21:45886800-45888200	Enhancers	Liver	Liver
9	chr21:45887800-45890800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr21:45888200-45893600	Weak transcription	Liver	Liver
11	chr21:45888800-45895200	Weak transcription	Left Ventricle	heart
12	chr21:45890800-45892000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:45892000-45895800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr21:45893200-45898600	Weak transcription	Spleen	Spleen
15	chr21:45893600-45895600	Enhancers	Liver	Liver
16	chr21:45893800-45894600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr21:45894200-45895400	Enhancers	Fetal Lung	lung

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