Variant report

Variant	esv2422173
Chromosome Location	chr5:146395146-146397258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113712765	chr5:146395147-146395148	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538030804	chr5:146395149-146395150	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182498906	chr5:146395165-146395166	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577796256	chr5:146395170-146395171	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115806378	chr5:146395175-146395176	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553853837	chr5:146395236-146395237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573508101	chr5:146395314-146395315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534893530	chr5:146395331-146395332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375726994	chr5:146395344-146395345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549122859	chr5:146395360-146395361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146267604	chr5:146395436-146395437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188014288	chr5:146395480-146395481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575578385	chr5:146395626-146395627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369905068	chr5:146395681-146395682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552925409	chr5:146395732-146395733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544379184	chr5:146395832-146395833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35752834	chr5:146395869-146395870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79683351	chr5:146395898-146395899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201476830	chr5:146395923-146395924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564376425	chr5:146395926-146395927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192991785	chr5:146395988-146395989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546753050	chr5:146395989-146395990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546179951	chr5:146396078-146396079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199602304	chr5:146396114-146396115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113271756	chr5:146396115-146396116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2400239	chr5:146396116-146396117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376721317	chr5:146396117-146396118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141651691	chr5:146396121-146396122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201769200	chr5:146396158-146396159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569172498	chr5:146396193-146396194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373048543	chr5:146396203-146396204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577731736	chr5:146396249-146396250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368259580	chr5:146396315-146396316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148474587	chr5:146396334-146396335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142694962	chr5:146396337-146396338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571438969	chr5:146396362-146396363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533994490	chr5:146396491-146396492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553543466	chr5:146396508-146396509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150973674	chr5:146396511-146396512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76599395	chr5:146396592-146396593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9325030	chr5:146396622-146396623	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556153112	chr5:146396640-146396641	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs575518276	chr5:146396747-146396748	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs79540814	chr5:146396772-146396773	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs564464409	chr5:146396956-146396957	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs140851928	chr5:146396958-146396959	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs540831204	chr5:146396988-146396989	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs560374839	chr5:146396998-146396999	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs200798572	chr5:146397010-146397011	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs144305448	chr5:146397018-146397019	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146375800-146395600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:146390600-146395600	Weak transcription	Brain Substantia Nigra	brain
3	chr5:146394600-146395200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:146394600-146395200	Enhancers	Brain Angular Gyrus	brain
5	chr5:146394800-146396400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:146394800-146396600	Enhancers	Brain Hippocampus Middle	brain
7	chr5:146395000-146395200	Enhancers	Brain Anterior Caudate	brain
8	chr5:146395000-146395200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr5:146395200-146395600	Weak transcription	Brain Anterior Caudate	brain
10	chr5:146395200-146395600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:146395200-146396400	Weak transcription	Brain Angular Gyrus	brain
12	chr5:146395200-146396600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:146395600-146395800	Enhancers	Brain Cingulate Gyrus	brain
14	chr5:146395600-146396800	Enhancers	Brain Anterior Caudate	brain
15	chr5:146395600-146397600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr5:146395600-146399600	Enhancers	Brain Substantia Nigra	brain
17	chr5:146395800-146396200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:146396200-146399600	Enhancers	Brain Cingulate Gyrus	brain
19	chr5:146396400-146397600	Enhancers	Brain Angular Gyrus	brain
20	chr5:146396400-146398000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:146396400-146398400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:146396600-146396800	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr5:146396600-146397400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:146396600-146399600	Enhancers	Rectal Smooth Muscle	rectum
25	chr5:146396800-146397000	Enhancers	Brain Hippocampus Middle	brain
26	chr5:146396800-146397200	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr5:146396800-146397600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:146396800-146397600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:146396800-146398000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:146397000-146397200	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr5:146397000-146397600	Enhancers	Fetal Lung	lung
32	chr5:146397200-146397400	Enhancers	Brain Hippocampus Middle	brain
33	chr5:146397200-146397400	Enhancers	Colon Smooth Muscle	Colon
34	chr5:146397200-146397600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:146397200-146397600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:146397200-146397600	Enhancers	Brain Anterior Caudate	brain

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