Variant report

Variant	esv2760698
Chromosome Location	chr21:28200072-28204073
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	chr21:28204050..28205550-chr21:28209063..28211233,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7277043	chr21:28200072-28200073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4143410	chr21:28200107-28200108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544072950	chr21:28200113-28200114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372355113	chr21:28200144-28200145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183165276	chr21:28200154-28200155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529586018	chr21:28200161-28200162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548946794	chr21:28200173-28200174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564691582	chr21:28200200-28200201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565503106	chr21:28200222-28200223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527263670	chr21:28200241-28200242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187178555	chr21:28200323-28200324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371367476	chr21:28200377-28200378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112056700	chr21:28200407-28200408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs229032	chr21:28200449-28200450	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs2830547	chr21:28200488-28200489	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs566056800	chr21:28200561-28200562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189680933	chr21:28200568-28200569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373809967	chr21:28200610-28200611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34416703	chr21:28200689-28200690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182250904	chr21:28200703-28200704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540158670	chr21:28200769-28200770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567536714	chr21:28200817-28200818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536124618	chr21:28200868-28200869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547203437	chr21:28200882-28200883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186962222	chr21:28200893-28200894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558456071	chr21:28200908-28200909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376999097	chr21:28200949-28200950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541448955	chr21:28200969-28200970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201277663	chr21:28201032-28201033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558276723	chr21:28201123-28201124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578179388	chr21:28201130-28201131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56035786	chr21:28201168-28201169	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs229033	chr21:28201201-28201202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114768462	chr21:28201287-28201288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62217269	chr21:28201327-28201328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs559995279	chr21:28201372-28201373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564661098	chr21:28201386-28201387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138060952	chr21:28201510-28201511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551002598	chr21:28201515-28201516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571004876	chr21:28201529-28201530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530548059	chr21:28201598-28201599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149113535	chr21:28201599-28201600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553901804	chr21:28201639-28201640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs67652736	chr21:28201640-28201641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397725128	chr21:28201664-28201665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567321548	chr21:28201673-28201674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536449540	chr21:28201746-28201747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371644372	chr21:28201763-28201764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371158678	chr21:28201780-28201781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552952097	chr21:28201854-28201855	Weak transcription	n/a	n/a	Overlapped CNVs	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28198800-28200600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr21:28199000-28200600	Enhancers	HMEC	breast
3	chr21:28199000-28208400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:28199200-28200600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr21:28199200-28200600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr21:28199200-28208800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr21:28199400-28200600	Enhancers	NHEK	skin
8	chr21:28199400-28203600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr21:28199400-28205600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:28199800-28200600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr21:28199800-28200600	Enhancers	Dnd41	blood
12	chr21:28199800-28205200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr21:28199800-28208800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr21:28200600-28203200	Weak transcription	Dnd41	blood
15	chr21:28200600-28205000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:28200600-28205400	Weak transcription	NHEK	skin
17	chr21:28200600-28205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr21:28200600-28205800	Weak transcription	HMEC	breast
19	chr21:28200600-28208800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:28203200-28209000	Enhancers	Dnd41	blood
21	chr21:28203600-28207800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr21:28203800-28204200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:28204000-28210000	Weak transcription	HUVEC	blood vessel

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