Variant report

Variant	esv2763491
Chromosome Location	chr5:116211296-116229315
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	chr5:116216466..116219443-chr5:116220949..116224827,3	MCF-7	breast:
2	chr5:116216466..116219443-chr5:116220949..116224827,3	MCF-7	breast:

Extended variants
information (count: 976 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6859942	chr5:116211296-116211297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189037695	chr5:116211299-116211300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372096749	chr5:116211347-116211348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553894395	chr5:116211350-116211351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10040444	chr5:116211352-116211353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529810666	chr5:116211411-116211412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375146667	chr5:116211477-116211478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549495662	chr5:116211480-116211481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192429775	chr5:116211530-116211531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565736826	chr5:116211532-116211533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532611571	chr5:116211538-116211539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184406002	chr5:116211574-116211575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35511410	chr5:116211587-116211588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149289916	chr5:116211615-116211616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370600524	chr5:116211616-116211617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565363349	chr5:116211618-116211619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377264755	chr5:116211621-116211622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566367218	chr5:116211625-116211626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534967417	chr5:116211626-116211627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554964586	chr5:116211627-116211628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568334162	chr5:116211628-116211629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35171847	chr5:116211641-116211642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537419116	chr5:116211662-116211663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557524371	chr5:116211680-116211681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201007845	chr5:116211681-116211682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370466156	chr5:116211685-116211686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116380306	chr5:116211687-116211688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187509653	chr5:116211691-116211692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542069550	chr5:116211694-116211695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572312376	chr5:116211702-116211703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386691500	chr5:116211710-116211711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs253891	chr5:116211711-116211712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs529677474	chr5:116211718-116211719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562051249	chr5:116211735-116211736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12188660	chr5:116211771-116211772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs532032724	chr5:116211785-116211786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552363687	chr5:116211816-116211817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566108150	chr5:116211826-116211827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140672454	chr5:116211827-116211828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145766439	chr5:116211881-116211882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs137936527	chr5:116211899-116211900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537482488	chr5:116211979-116211980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557388270	chr5:116211994-116211995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191794590	chr5:116212019-116212020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374759473	chr5:116212027-116212028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368837937	chr5:116212048-116212049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558730785	chr5:116212082-116212083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572116643	chr5:116212106-116212107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540772425	chr5:116212141-116212142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184008955	chr5:116212198-116212199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116206000-116215600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:116209200-116211800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:116211800-116212200	Enhancers	HSMM	muscle
4	chr5:116211800-116213200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:116214200-116217200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:116215600-116216200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr5:116216000-116216600	Enhancers	Brain Germinal Matrix	brain
8	chr5:116216200-116224800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:116217200-116218600	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr5:116217800-116218200	Enhancers	HepG2	liver
11	chr5:116218000-116222600	Enhancers	GM12878-XiMat	blood
12	chr5:116223600-116224200	Enhancers	Fetal Muscle Leg	muscle
13	chr5:116224800-116225200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:116224800-116225400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:116224800-116225400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:116225200-116231800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:116225400-116233800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:116228600-116229200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:116229200-116231600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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