Variant report

Variant	esv3411030
Chromosome Location	chr5:116189521-116191430
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140026665	chr5:116189524-116189525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562553157	chr5:116189528-116189529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199687793	chr5:116189542-116189543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs58135755	chr5:116189545-116189546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59370217	chr5:116189592-116189593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537018046	chr5:116189629-116189630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143523208	chr5:116189693-116189694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78585046	chr5:116189695-116189696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562546135	chr5:116189757-116189758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148002125	chr5:116189781-116189782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76618520	chr5:116189795-116189796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74513163	chr5:116189808-116189809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532068912	chr5:116189816-116189817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527365277	chr5:116189857-116189858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547996939	chr5:116189898-116189899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561318123	chr5:116189903-116189904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141647867	chr5:116189919-116189920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550165463	chr5:116189924-116189925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371272762	chr5:116189951-116189952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532345586	chr5:116189962-116189963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147131255	chr5:116189984-116189985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565873246	chr5:116190017-116190018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534789360	chr5:116190018-116190019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56075415	chr5:116190063-116190064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115319682	chr5:116190094-116190095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183412337	chr5:116190103-116190104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116830428	chr5:116190122-116190123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369903977	chr5:116190159-116190160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138931396	chr5:116190162-116190163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111924149	chr5:116190206-116190207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558565652	chr5:116190223-116190224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56661176	chr5:116190239-116190240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527896727	chr5:116190250-116190251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373316192	chr5:116190251-116190252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540756208	chr5:116190267-116190268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561539332	chr5:116190272-116190273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187866882	chr5:116190295-116190296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190023230	chr5:116190314-116190315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563607244	chr5:116190336-116190337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6862538	chr5:116190343-116190344	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs182176268	chr5:116190358-116190359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77247560	chr5:116190367-116190368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147756238	chr5:116190369-116190370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142849200	chr5:116190387-116190388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72819539	chr5:116190436-116190437	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147428301	chr5:116190520-116190521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192941809	chr5:116190526-116190527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6881917	chr5:116190569-116190570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113157421	chr5:116190581-116190582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6882344	chr5:116190599-116190600	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116181000-116189800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:116185200-116189800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:116185200-116191400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:116185200-116193800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:116185600-116191400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:116186600-116189800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:116186800-116189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:116187000-116189600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:116187200-116190000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:116188400-116189800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:116188600-116193200	Weak transcription	HepG2	liver
12	chr5:116188600-116194000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:116189600-116190200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:116189600-116190600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:116189600-116191800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr5:116189800-116190000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:116189800-116190000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:116189800-116190000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:116189800-116190400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr5:116189800-116190600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:116189800-116190600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:116189800-116190800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:116189800-116190800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:116189800-116192800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:116190000-116190200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:116190000-116190200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:116190000-116190200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:116190000-116190600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:116190200-116191400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:116190200-116191400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:116190200-116191600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:116190200-116198600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:116190400-116191400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr5:116190600-116190800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr5:116190600-116190800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:116190600-116191000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:116190600-116191600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:116190600-116194000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:116190800-116191200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:116190800-116191200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:116190800-116191600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr5:116191000-116193400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:116191200-116193000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr5:116191200-116198800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:116191400-116191600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:116191400-116192000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr5:116191400-116192600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:116191400-116192800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:116191400-116192800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr5:116191400-116193000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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