Variant report

Variant	esv3516561
Chromosome Location	chr20:24791302-24793900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:24786455..24788540-chr20:24788618..24791423,2	MCF-7	breast:
2	chr20:24771567..24773890-chr20:24790007..24791908,2	MCF-7	breast:
3	chr20:24780843..24782788-chr20:24791141..24793003,2	MCF-7	breast:

Extended variants
information (count: 143 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6049988	chr20:24791304-24791305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566288497	chr20:24791358-24791359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368313965	chr20:24791372-24791373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535298384	chr20:24791387-24791388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181559096	chr20:24791434-24791435	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs550638712	chr20:24791451-24791452	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs533889008	chr20:24791454-24791455	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs549151693	chr20:24791455-24791456	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs6036913	chr20:24791490-24791491	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536243118	chr20:24791562-24791563	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs73101426	chr20:24791623-24791624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567112698	chr20:24791662-24791663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538977737	chr20:24791748-24791749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200987413	chr20:24791749-24791750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143540541	chr20:24791751-24791752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112912459	chr20:24791779-24791780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575882744	chr20:24791781-24791782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73335473	chr20:24791787-24791788	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185851536	chr20:24791789-24791790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190264762	chr20:24791793-24791794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556209496	chr20:24791799-24791800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540181239	chr20:24791804-24791805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559905016	chr20:24791853-24791854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532404033	chr20:24791868-24791869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201699393	chr20:24791874-24791875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562472235	chr20:24791879-24791880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139689138	chr20:24791905-24791906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548028104	chr20:24791965-24791966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567375822	chr20:24792003-24792004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181140938	chr20:24792043-24792044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186056044	chr20:24792108-24792109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13042976	chr20:24792160-24792161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13044163	chr20:24792162-24792163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566773323	chr20:24792195-24792196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6114878	chr20:24792203-24792204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539048999	chr20:24792251-24792252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11473927	chr20:24792259-24792260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559276080	chr20:24792306-24792307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73101427	chr20:24792351-24792352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11477951	chr20:24792358-24792359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75093709	chr20:24792360-24792361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73903981	chr20:24792375-24792376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574546445	chr20:24792376-24792377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539970512	chr20:24792407-24792408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71335540	chr20:24792415-24792416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112853659	chr20:24792427-24792428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6114879	chr20:24792430-24792431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs111711418	chr20:24792454-24792455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548328350	chr20:24792615-24792616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182411378	chr20:24792633-24792634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	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
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24777200-24791400	Weak transcription	Spleen	Spleen
2	chr20:24790600-24791400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:24790600-24791400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:24791400-24791600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:24791400-24791800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr20:24791400-24792000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:24791400-24792200	Enhancers	Spleen	Spleen
8	chr20:24791600-24793800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr20:24791800-24793600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr20:24792000-24793800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:24792200-24792600	Weak transcription	Spleen	Spleen
12	chr20:24792600-24792800	Enhancers	Spleen	Spleen
13	chr20:24792800-24793000	Flanking Active TSS	Spleen	Spleen
14	chr20:24793000-24793800	Enhancers	Spleen	Spleen
15	chr20:24793600-24794200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr20:24793800-24794000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr20:24793800-24794000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr20:24793800-24794200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr20:24793800-24794200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr20:24793800-24796600	Weak transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links