Variant report

Variant	esv2762543
Chromosome Location	chr5:117486781-117503502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:117499273..117500993-chr5:117501863..117504364,2	MCF-7	breast:
2	chr5:117501309..117503811-chr5:117506709..117509666,2	MCF-7	breast:
3	chr19:45004428..45006019-chr5:117490682..117492182,2	MCF-7	breast:
4	chr5:117499273..117500993-chr5:117501863..117504364,2	MCF-7	breast:
5	chr5:117488562..117490420-chr5:117492195..117496132,3	MCF-7	breast:
6	chr5:117488562..117490420-chr5:117492195..117496132,3	MCF-7	breast:
7	chr5:117502319..117505069-chr5:118158604..118161182,2	K562	blood:

Variant related genes	Relation type
ENSG00000167384	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 73 )

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	rs535921288	chr5:117490792-117490793	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181376586	chr5:117490818-117490819	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531001827	chr5:117490819-117490820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141295150	chr5:117490830-117490831	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs564527931	chr5:117490855-117490856	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186865392	chr5:117490861-117490862	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs191294739	chr5:117490862-117490863	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369611494	chr5:117490911-117490912	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145021721	chr5:117490971-117490972	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs17164502	chr5:117491000-117491001	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181232931	chr5:117491057-117491058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568976353	chr5:117491062-117491063	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537545051	chr5:117491070-117491071	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs148301253	chr5:117491071-117491072	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12109888	chr5:117491078-117491079	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs534049182	chr5:117491089-117491090	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554136127	chr5:117491091-117491092	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186696591	chr5:117491163-117491164	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs560673598	chr5:117491184-117491185	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189824628	chr5:117491216-117491217	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528086789	chr5:117491241-117491242	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573258976	chr5:117491271-117491272	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535890894	chr5:117491283-117491284	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555574707	chr5:117491291-117491292	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs79701411	chr5:117491359-117491360	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141389762	chr5:117491383-117491384	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs62371607	chr5:117491391-117491392	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs17416985	chr5:117491406-117491407	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540505746	chr5:117491416-117491417	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560449584	chr5:117491495-117491496	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182429943	chr5:117491524-117491525	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549012156	chr5:117491547-117491548	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562352758	chr5:117491573-117491574	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531399313	chr5:117491698-117491699	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs1871365	chr5:117491727-117491728	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs571443016	chr5:117491807-117491808	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534011317	chr5:117491838-117491839	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs547703223	chr5:117491839-117491840	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs79180368	chr5:117491846-117491847	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368563803	chr5:117491867-117491868	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536555432	chr5:117491871-117491872	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555693922	chr5:117491921-117491922	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs150910287	chr5:117491965-117491966	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187717434	chr5:117491981-117491982	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191040917	chr5:117492032-117492033	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183551769	chr5:117492055-117492056	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538685370	chr5:117492081-117492082	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540468659	chr5:117492095-117492096	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560412507	chr5:117492096-117492097	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs573953149	chr5:117492132-117492133	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117491200-117492400	Enhancers	Fetal Lung	lung
2	chr5:117494400-117494800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:117494400-117494800	Enhancers	HUES48 Cell Line	embryonic stem cell

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