Variant report

Variant	esv3420776
Chromosome Location	chr5:58493695-58498393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 295 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184594981	chr5:58493706-58493707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551751040	chr5:58493707-58493708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144592059	chr5:58493726-58493727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568632132	chr5:58493768-58493769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534293845	chr5:58493889-58493890	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10472097	chr5:58493914-58493915	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs115258588	chr5:58493916-58493917	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188680648	chr5:58493917-58493918	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536431882	chr5:58493919-58493920	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180858749	chr5:58493937-58493938	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532056250	chr5:58493959-58493960	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147881565	chr5:58493960-58493961	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545305865	chr5:58494000-58494001	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565612663	chr5:58494018-58494019	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577566159	chr5:58494042-58494043	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535755542	chr5:58494043-58494044	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559978643	chr5:58494129-58494130	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568892080	chr5:58494130-58494131	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545754973	chr5:58494138-58494139	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150161727	chr5:58494141-58494142	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549168702	chr5:58494147-58494148	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183933318	chr5:58494167-58494168	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116193731	chr5:58494180-58494181	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376691950	chr5:58494183-58494184	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189396740	chr5:58494186-58494187	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368792564	chr5:58494189-58494190	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182225464	chr5:58494192-58494193	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547803637	chr5:58494220-58494221	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367721843	chr5:58494334-58494335	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567619538	chr5:58494366-58494367	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536350669	chr5:58494405-58494406	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73104864	chr5:58494505-58494506	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs569905970	chr5:58494522-58494523	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187506533	chr5:58494526-58494527	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558967430	chr5:58494562-58494563	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138675084	chr5:58494613-58494614	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539815676	chr5:58494639-58494640	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553749717	chr5:58494670-58494671	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191443632	chr5:58494679-58494680	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533846722	chr5:58494707-58494708	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372234777	chr5:58494751-58494752	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148865324	chr5:58494870-58494871	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562611766	chr5:58494893-58494894	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531530111	chr5:58494904-58494905	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545215679	chr5:58494936-58494937	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376588938	chr5:58494947-58494948	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527599073	chr5:58494977-58494978	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556450037	chr5:58494998-58494999	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377493653	chr5:58495018-58495019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547429489	chr5:58495045-58495046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastric cancer	22315472	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58474400-58520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:58484600-58495600	Weak transcription	Fetal Kidney	kidney
3	chr5:58484800-58501200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:58485000-58499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:58485000-58505200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:58485000-58518800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:58485600-58500400	Weak transcription	Psoas Muscle	Psoas
8	chr5:58485600-58501600	Weak transcription	HUVEC	blood vessel
9	chr5:58485600-58512400	Weak transcription	Pancreas	Pancrea
10	chr5:58485600-58518200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:58486000-58494200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:58486000-58508600	Weak transcription	Fetal Intestine Large	intestine
13	chr5:58489800-58500400	Weak transcription	Right Ventricle	heart
14	chr5:58490000-58495800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:58490000-58500400	Weak transcription	Left Ventricle	heart
16	chr5:58490000-58509800	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:58490000-58511600	Weak transcription	Gastric	stomach
18	chr5:58490400-58494000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:58490400-58501200	Weak transcription	Fetal Heart	heart
20	chr5:58490400-58519200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:58491400-58505800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:58491400-58509000	Weak transcription	Fetal Intestine Small	intestine
23	chr5:58491400-58515600	Weak transcription	Fetal Stomach	stomach
24	chr5:58492000-58505600	Weak transcription	Hela-S3	cervix
25	chr5:58492400-58510600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:58492600-58493800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:58492800-58493800	Weak transcription	A549	lung
28	chr5:58493400-58500800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr5:58493600-58494400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr5:58493600-58494800	Enhancers	Colon Smooth Muscle	Colon
31	chr5:58493600-58494800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr5:58493800-58494400	Enhancers	Rectal Smooth Muscle	rectum
33	chr5:58493800-58495000	Genic enhancers	A549	lung
34	chr5:58494000-58494400	Enhancers	Fetal Lung	lung
35	chr5:58494000-58496000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr5:58494200-58494400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:58494200-58494400	Enhancers	Brain Substantia Nigra	brain
38	chr5:58494400-58494600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:58494400-58495800	Weak transcription	Fetal Lung	lung
40	chr5:58494400-58495800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr5:58494400-58500400	Weak transcription	Brain Substantia Nigra	brain
42	chr5:58494400-58513600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:58494600-58510000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:58494800-58500200	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:58494800-58500200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr5:58495000-58495800	Weak transcription	A549	lung
47	chr5:58495600-58496200	ZNF genes & repeats	Fetal Kidney	kidney
48	chr5:58495800-58496000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:58495800-58496000	Enhancers	Duodenum Mucosa	Duodenum
50	chr5:58495800-58496000	ZNF genes & repeats	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links