Variant report

Variant	esv3349832
Chromosome Location	chr4:28599054-28601102
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	chr4:28599052..28601001-chr4:28607450..28609596,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577192188	chr4:28599060-28599061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2471693	chr4:28599089-28599090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563050602	chr4:28599129-28599130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576369163	chr4:28599148-28599149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576370351	chr4:28599149-28599150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542116942	chr4:28599152-28599153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561975708	chr4:28599154-28599155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2471694	chr4:28599164-28599165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547188395	chr4:28599228-28599229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191975310	chr4:28599231-28599232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115814565	chr4:28599246-28599247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549707902	chr4:28599281-28599282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572578241	chr4:28599286-28599287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535794874	chr4:28599308-28599309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537711373	chr4:28599373-28599374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549276817	chr4:28599405-28599406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565898279	chr4:28599517-28599518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557011707	chr4:28599521-28599522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182389859	chr4:28599522-28599523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534783159	chr4:28599589-28599590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553978624	chr4:28599668-28599669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577229104	chr4:28599686-28599687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1473899	chr4:28599767-28599768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs115162669	chr4:28599786-28599787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576008584	chr4:28599852-28599853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542148864	chr4:28599916-28599917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34338478	chr4:28599920-28599921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541728019	chr4:28599935-28599936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562008273	chr4:28599940-28599941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139450394	chr4:28600042-28600043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541564101	chr4:28600061-28600062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564034331	chr4:28600069-28600070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533088234	chr4:28600087-28600088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374972505	chr4:28600096-28600097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369191033	chr4:28600103-28600104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549608340	chr4:28600163-28600164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78006610	chr4:28600178-28600179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572883905	chr4:28600180-28600181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528861272	chr4:28600209-28600210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186944080	chr4:28600225-28600226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565935393	chr4:28600265-28600266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528284935	chr4:28600275-28600276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537344157	chr4:28600323-28600324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571352660	chr4:28600337-28600338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73215430	chr4:28600371-28600372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs80317644	chr4:28600379-28600380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530737434	chr4:28600434-28600435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569728159	chr4:28600459-28600460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369285732	chr4:28600473-28600474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535428069	chr4:28600509-28600510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28588200-28623400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links