Variant report

Variant	esv3382747
Chromosome Location	chr20:11468552-11472950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562625910	chr20:11468603-11468604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550084125	chr20:11468645-11468646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139228205	chr20:11468656-11468657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141277285	chr20:11468666-11468667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558615136	chr20:11468700-11468701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6131217	chr20:11468756-11468757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572085110	chr20:11468774-11468775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534722765	chr20:11468776-11468777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559077220	chr20:11468860-11468861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554418828	chr20:11468969-11468970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149461478	chr20:11469436-11469437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547109941	chr20:11469468-11469469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185479057	chr20:11469485-11469486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542434929	chr20:11469490-11469491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560345007	chr20:11469492-11469493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570061161	chr20:11469510-11469511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6033168	chr20:11469670-11469671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527865975	chr20:11469677-11469678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190865619	chr20:11469701-11469702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181925780	chr20:11469738-11469739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551846524	chr20:11469775-11469776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565670852	chr20:11469816-11469817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112011803	chr20:11469849-11469850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185973906	chr20:11469955-11469956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534390828	chr20:11470012-11470013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554662724	chr20:11470160-11470161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574666925	chr20:11470165-11470166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537273162	chr20:11470225-11470226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557292188	chr20:11470233-11470234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546330954	chr20:11470268-11470269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191927558	chr20:11470280-11470281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs60485829	chr20:11470329-11470330	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs367562384	chr20:11470330-11470331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183576216	chr20:11470368-11470369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191044351	chr20:11470427-11470428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568826774	chr20:11470446-11470447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572427663	chr20:11470454-11470455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537870620	chr20:11470455-11470456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557740839	chr20:11470456-11470457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150618547	chr20:11470471-11470472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541132154	chr20:11470477-11470478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200537190	chr20:11470489-11470490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201894967	chr20:11470491-11470492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375988322	chr20:11470492-11470493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201040322	chr20:11470503-11470504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371059612	chr20:11470505-11470506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6078214	chr20:11470515-11470516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141404916	chr20:11470525-11470526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530227596	chr20:11470669-11470670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188173881	chr20:11470708-11470709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21804112	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11467600-11469000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr20:11468000-11469000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr20:11469400-11469800	Enhancers	Aorta	Aorta
4	chr20:11469600-11469800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr20:11469800-11470200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr20:11469800-11471400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr20:11469800-11471400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr20:11469800-11471600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr20:11470000-11470200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr20:11470000-11470200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:11470000-11471000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr20:11470000-11471200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr20:11470200-11470600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr20:11470200-11471000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr20:11470200-11471800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr20:11470600-11471600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr20:11471000-11471600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr20:11471000-11471600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr20:11471200-11471800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr20:11471400-11471600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr20:11471600-11471800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr20:11471600-11472000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr20:11471600-11473400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr20:11471600-11475000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr20:11471600-11475600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr20:11471800-11472200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr20:11471800-11472400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr20:11471800-11472600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr20:11472000-11472200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr20:11472000-11472200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr20:11472200-11472400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr20:11472200-11472400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr20:11472200-11472400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr20:11472200-11473400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr20:11472400-11472800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr20:11472400-11473400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr20:11472400-11478200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr20:11472400-11479600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr20:11472600-11475000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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