Variant report

Variant	nsv187429
Chromosome Location	chr21:45015641-45018270
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44958599..44960833-chr21:45017380..45019102,2	MCF-7	breast:
2	chr21:44989825..44992417-chr21:45017428..45020329,2	MCF-7	breast:
3	chr21:45014001..45016149-chr21:45027963..45031277,3	MCF-7	breast:
4	chr21:44930891..44933537-chr21:45017646..45020040,2	MCF-7	breast:
5	chr21:45015645..45018360-chr21:45028060..45029988,2	MCF-7	breast:
6	chr21:44929401..44931508-chr21:45015628..45019409,3	MCF-7	breast:
7	chr21:45015801..45017430-chr21:45020275..45022626,2	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56165137	chr21:45015641-45015642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs8132908	chr21:45015642-45015643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202235984	chr21:45015643-45015644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200447026	chr21:45015644-45015645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529180183	chr21:45015692-45015693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12626757	chr21:45015698-45015699	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs559579311	chr21:45015744-45015745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148429944	chr21:45015769-45015770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13052539	chr21:45015790-45015791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551537838	chr21:45015791-45015792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190917219	chr21:45015804-45015805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531132883	chr21:45015823-45015824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13049542	chr21:45015850-45015851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373387613	chr21:45015859-45015860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549345740	chr21:45015892-45015893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567649349	chr21:45015896-45015897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182618695	chr21:45015926-45015927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534974259	chr21:45015933-45015934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188086361	chr21:45016000-45016001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7279958	chr21:45016016-45016017	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs77156387	chr21:45016137-45016138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7509947	chr21:45016185-45016186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77567649	chr21:45016204-45016205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192803412	chr21:45016215-45016216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561033423	chr21:45016226-45016227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555400200	chr21:45016257-45016258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369500694	chr21:45016268-45016269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112009393	chr21:45016269-45016270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548950897	chr21:45016293-45016294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574026507	chr21:45016321-45016322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541286574	chr21:45016536-45016537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182866067	chr21:45016588-45016589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545550315	chr21:45016636-45016637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115033958	chr21:45016714-45016715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563667724	chr21:45016718-45016719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531015154	chr21:45016759-45016760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113343612	chr21:45016769-45016770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144075957	chr21:45016783-45016784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73223088	chr21:45016785-45016786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61082908	chr21:45016790-45016791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6518301	chr21:45016818-45016819	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs74420396	chr21:45016915-45016916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77003380	chr21:45016929-45016930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111516090	chr21:45016945-45016946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550672960	chr21:45016967-45016968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114302271	chr21:45016989-45016990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116397017	chr21:45017054-45017055	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs187488912	chr21:45017134-45017135	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs557507838	chr21:45017257-45017258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569696188	chr21:45017258-45017259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44995000-45024200	Weak transcription	Fetal Brain Male	brain
2	chr21:45006200-45023000	Weak transcription	Right Atrium	heart
3	chr21:45006200-45024000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr21:45007000-45016400	Weak transcription	NHLF	lung
5	chr21:45008000-45020000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr21:45009200-45020000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr21:45009600-45016200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr21:45010800-45015800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr21:45010800-45016200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:45010800-45016400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:45010800-45016400	Weak transcription	NHEK	skin
12	chr21:45011800-45016200	Weak transcription	HMEC	breast
13	chr21:45012000-45016400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr21:45012200-45016200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr21:45012200-45016400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:45012200-45016400	Weak transcription	Osteobl	bone
17	chr21:45012800-45016400	Weak transcription	HSMMtube	muscle
18	chr21:45012800-45016800	Weak transcription	Fetal Intestine Small	intestine
19	chr21:45013200-45022200	Weak transcription	Adipose Nuclei	Adipose
20	chr21:45013400-45016200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:45013400-45016400	Weak transcription	Hela-S3	cervix
22	chr21:45013800-45025000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr21:45014200-45016200	Weak transcription	HepG2	liver
24	chr21:45014200-45016400	Weak transcription	HSMM	muscle
25	chr21:45014800-45018600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr21:45015200-45016000	Weak transcription	A549	lung
27	chr21:45015400-45015800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr21:45015400-45015800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr21:45015400-45016400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr21:45015600-45016600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr21:45015800-45017200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr21:45015800-45018600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr21:45015800-45019600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr21:45016000-45018400	Enhancers	A549	lung
35	chr21:45016200-45017400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr21:45016200-45017400	Enhancers	HepG2	liver
37	chr21:45016200-45017800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr21:45016200-45019200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr21:45016200-45021800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr21:45016200-45025000	Enhancers	HMEC	breast
41	chr21:45016400-45017000	Enhancers	NHEK	skin
42	chr21:45016400-45017400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr21:45016400-45017400	Enhancers	HSMMtube	muscle
44	chr21:45016400-45017600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr21:45016400-45019400	Enhancers	Hela-S3	cervix
46	chr21:45016400-45020800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr21:45016400-45021800	Enhancers	NH-A	brain
48	chr21:45016400-45022600	Enhancers	NHLF	lung
49	chr21:45016400-45024200	Enhancers	HSMM	muscle
50	chr21:45016400-45024400	Enhancers	Osteobl	bone

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