Variant report

Variant	esv3378380
Chromosome Location	chr21:28188381-28190979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28181750..28184261-chr21:28187491..28189634,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189064899	chr21:28188526-28188527	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545855095	chr21:28188534-28188535	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367907652	chr21:28188535-28188536	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370921301	chr21:28188567-28188568	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs464940	chr21:28188568-28188569	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201403430	chr21:28188572-28188573	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs202013267	chr21:28188574-28188575	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs457224	chr21:28188588-28188589	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs180917899	chr21:28188606-28188607	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185402833	chr21:28188694-28188695	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9983638	chr21:28188735-28188736	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370191305	chr21:28188736-28188737	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113920410	chr21:28188737-28188738	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs457229	chr21:28188739-28188740	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62217268	chr21:28188741-28188742	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201166557	chr21:28188743-28188744	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565367873	chr21:28188765-28188766	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536591881	chr21:28188824-28188825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531221496	chr21:28188845-28188846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550828868	chr21:28188860-28188861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369952164	chr21:28189007-28189008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs468245	chr21:28189029-28189030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529595927	chr21:28189035-28189036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189430911	chr21:28189047-28189048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566551844	chr21:28189063-28189064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375617425	chr21:28189071-28189072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370083451	chr21:28189080-28189081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554215134	chr21:28189225-28189226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200147770	chr21:28189414-28189415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568991105	chr21:28189473-28189474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538051449	chr21:28189502-28189503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117312465	chr21:28189598-28189599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546479613	chr21:28189624-28189625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568363377	chr21:28189759-28189760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536605814	chr21:28189791-28189792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376420506	chr21:28189798-28189799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs55987960	chr21:28189801-28189802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553452935	chr21:28189816-28189817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs456604	chr21:28189900-28189901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs199765188	chr21:28189961-28189962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114279615	chr21:28190038-28190039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182089518	chr21:28190109-28190110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532702041	chr21:28190123-28190124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186020771	chr21:28190127-28190128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138728123	chr21:28190168-28190169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550842951	chr21:28190330-28190331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561206821	chr21:28190348-28190349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375946937	chr21:28190378-28190379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562765672	chr21:28190389-28190390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs456954	chr21:28190398-28190399	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	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
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	21251322	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	22174824	CNVD
Renal cell carcinoma	18765545	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Hypoplastic left heart syndrome	22349727	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28182600-28192200	Weak transcription	NHEK	skin
2	chr21:28183800-28190200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:28185200-28188400	Enhancers	Hela-S3	cervix
4	chr21:28186200-28188600	Enhancers	HSMM	muscle
5	chr21:28186400-28188400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:28187000-28192400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:28187400-28192600	Weak transcription	Placenta	Placenta
8	chr21:28187600-28188600	Enhancers	Fetal Lung	lung
9	chr21:28187600-28190200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr21:28188000-28188400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:28188000-28188400	Active TSS	Adipose Nuclei	Adipose
12	chr21:28188000-28188400	Active TSS	Ovary	ovary
13	chr21:28188000-28188400	Active TSS	Right Atrium	heart
14	chr21:28188000-28188400	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr21:28188000-28188400	Active TSS	Osteobl	bone
16	chr21:28188000-28188600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:28188000-28188600	Enhancers	Fetal Brain Male	brain
18	chr21:28188200-28188400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:28188200-28188800	Active TSS	HSMMtube	muscle
20	chr21:28188200-28192200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:28188400-28188800	Enhancers	Osteobl	bone
22	chr21:28188400-28191800	Weak transcription	Hela-S3	cervix
23	chr21:28188400-28198600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:28190200-28190400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr21:28190200-28190600	Enhancers	Fetal Kidney	kidney
26	chr21:28190200-28190800	Enhancers	Fetal Intestine Large	intestine
27	chr21:28190200-28191800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr21:28190200-28191800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr21:28190400-28191400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr21:28190600-28191400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr21:28190600-28192000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr21:28190800-28192400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr21:28190800-28192600	Enhancers	HUES6 Cell Line	embryonic stem cell

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