Variant report

Variant	esv3377083
Chromosome Location	chr21:44811549-44814397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44810332..44812959-chr21:44829398..44831869,3	MCF-7	breast:
2	chr21:44810007..44811602-chr21:44823731..44826616,2	K562	blood:
3	chr21:44804088..44806777-chr21:44809162..44811589,2	K562	blood:
4	chr21:44814074..44816129-chr21:44848271..44850690,2	K562	blood:
5	chr21:44810439..44813413-chr21:44816127..44819027,3	K562	blood:
6	chr21:44763173..44768518-chr21:44813268..44818095,5	MCF-7	breast:

Extended variants
information (count: 162 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78830796	chr21:44811579-44811580	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141119482	chr21:44811582-44811583	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149874127	chr21:44811612-44811613	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147569933	chr21:44811618-44811619	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551857553	chr21:44811662-44811663	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142026149	chr21:44811665-44811666	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574954125	chr21:44811670-44811671	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9982917	chr21:44811708-44811709	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567845226	chr21:44811709-44811710	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535353478	chr21:44811714-44811715	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9982923	chr21:44811720-44811721	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs77125628	chr21:44811742-44811743	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145892424	chr21:44811747-44811748	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557385612	chr21:44811765-44811766	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180964770	chr21:44811846-44811847	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs185433355	chr21:44811861-44811862	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs561758953	chr21:44811862-44811863	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs529153460	chr21:44811872-44811873	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs541377458	chr21:44811896-44811897	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs73906529	chr21:44811940-44811941	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs78184889	chr21:44811950-44811951	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs551622482	chr21:44811961-44811962	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs542030239	chr21:44811968-44811969	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs67784679	chr21:44811984-44811985	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531066424	chr21:44812007-44812008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371882741	chr21:44812015-44812016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567696272	chr21:44812032-44812033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535000967	chr21:44812102-44812103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553213073	chr21:44812103-44812104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs67059973	chr21:44812119-44812120	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs538822189	chr21:44812164-44812165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377425010	chr21:44812181-44812182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564135207	chr21:44812183-44812184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576041193	chr21:44812226-44812227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543532752	chr21:44812233-44812234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555058074	chr21:44812253-44812254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536776068	chr21:44812266-44812267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573540509	chr21:44812298-44812299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541030725	chr21:44812315-44812316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559656578	chr21:44812331-44812332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190186532	chr21:44812342-44812343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569720466	chr21:44812366-44812367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545206296	chr21:44812371-44812372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182817291	chr21:44812375-44812376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577265805	chr21:44812376-44812377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397963346	chr21:44812381-44812382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531633308	chr21:44812443-44812444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367748889	chr21:44812447-44812448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576441193	chr21:44812451-44812452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113795355	chr21:44812470-44812471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44790600-44830800	Weak transcription	Right Atrium	heart
2	chr21:44795400-44814200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:44800400-44814200	Weak transcription	Hela-S3	cervix
4	chr21:44804400-44819000	Weak transcription	Gastric	stomach
5	chr21:44806600-44814600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr21:44807600-44814600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:44808000-44814200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr21:44808200-44814600	Weak transcription	Spleen	Spleen
9	chr21:44808400-44814000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:44808400-44816600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:44808600-44823000	Weak transcription	Brain Germinal Matrix	brain
12	chr21:44810800-44811800	Strong transcription	A549	lung
13	chr21:44811200-44812600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:44811400-44814000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:44811400-44814200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr21:44811400-44815200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr21:44811800-44812000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr21:44811800-44815200	Weak transcription	A549	lung
19	chr21:44812600-44814400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:44812800-44814000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr21:44814000-44817600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr21:44814000-44819200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:44814000-44822400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:44814200-44814400	Enhancers	Hela-S3	cervix
25	chr21:44814200-44814600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr21:44814200-44814800	Enhancers	Fetal Kidney	kidney
27	chr21:44814200-44815000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr21:44814200-44815200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:44814200-44815600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:44814200-44817800	Enhancers	Placenta Amnion	Placenta Amnion

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