Variant report

Variant	esv1799323
Chromosome Location	chr5:80179312-80219650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:80176112..80177820-chr5:80178405..80181229,2	MCF-7	breast:
2	chr5:80204732..80207164-chr5:80208372..80210504,2	MCF-7	breast:
3	chr5:80056999..80059989-chr5:80180309..80182512,2	K562	blood:
4	chr5:80210116..80213052-chr5:80215295..80217111,2	K562	blood:
5	chr5:80187844..80190265-chr5:80191742..80193498,2	K562	blood:
6	chr5:80210116..80213052-chr5:80215295..80217111,2	K562	blood:
7	chr5:80204732..80207164-chr5:80208372..80210504,2	MCF-7	breast:
8	chr5:80187844..80190265-chr5:80191742..80193498,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MSH3-3	chr5:80189373-80190268	NONHSAT102421
2	lnc-MSH3-3	chr5:80210416-80210449	NONHSAT102421
3	lnc-MSH3-3	chr5:80209998-80210402	NONHSAT102421
4	lnc-MSH3-3	chr5:80211461-80211519	NONHSAT102421

No data

Extended variants
information (count: 1405 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1405 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186842647	chr5:80179316-80179317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556189838	chr5:80179325-80179326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377295956	chr5:80179355-80179356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569636331	chr5:80179384-80179385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142688516	chr5:80179388-80179389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375407421	chr5:80179451-80179452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572078410	chr5:80179501-80179502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79950087	chr5:80179523-80179524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540881855	chr5:80179538-80179539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574575754	chr5:80179539-80179540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191721043	chr5:80179601-80179602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149318863	chr5:80179723-80179724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577331694	chr5:80179869-80179870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546062214	chr5:80179887-80179888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563124374	chr5:80179922-80179923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150938515	chr5:80179977-80179978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542353129	chr5:80180019-80180020	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561708472	chr5:80180098-80180099	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183510379	chr5:80180156-80180157	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547261526	chr5:80180188-80180189	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140687944	chr5:80180200-80180201	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370139357	chr5:80180231-80180232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144574018	chr5:80180261-80180262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188061489	chr5:80180282-80180283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181029692	chr5:80180302-80180303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138604395	chr5:80180338-80180339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370292384	chr5:80180427-80180428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140262423	chr5:80180432-80180433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185517942	chr5:80180436-80180437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534614798	chr5:80180458-80180459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557818257	chr5:80180471-80180472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145114951	chr5:80180496-80180497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190813690	chr5:80180515-80180516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577179169	chr5:80180592-80180593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62365496	chr5:80180609-80180610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556473628	chr5:80180632-80180633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576590201	chr5:80180643-80180644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10041898	chr5:80180698-80180699	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs548576215	chr5:80180735-80180736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181469313	chr5:80180747-80180748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201676541	chr5:80180793-80180794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112812334	chr5:80180796-80180797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558705044	chr5:80180797-80180798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72023672	chr5:80180820-80180821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs60606407	chr5:80180825-80180826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61171552	chr5:80180829-80180830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs10683321	chr5:80180830-80180831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6886724	chr5:80180837-80180838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186124066	chr5:80180858-80180859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374397826	chr5:80180859-80180860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80091400-80181000	Weak transcription	Small Intestine	intestine
2	chr5:80145600-80181000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:80149800-80180000	Weak transcription	Psoas Muscle	Psoas
4	chr5:80157600-80180000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:80163000-80181400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:80163200-80180000	Weak transcription	Fetal Kidney	kidney
7	chr5:80163200-80186600	Weak transcription	HSMMtube	muscle
8	chr5:80163200-80188400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:80167800-80180800	Weak transcription	K562	blood
10	chr5:80167800-80187200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:80169600-80190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:80171200-80183600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:80171200-80186400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:80171400-80196400	Weak transcription	Hela-S3	cervix
15	chr5:80171800-80186800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:80172000-80180000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:80172200-80186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:80173200-80181000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:80173600-80181400	Weak transcription	Ovary	ovary
20	chr5:80173600-80208000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:80173800-80181200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:80173800-80186200	Weak transcription	Fetal Brain Female	brain
23	chr5:80173800-80188600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr5:80174000-80180000	Weak transcription	Brain Substantia Nigra	brain
25	chr5:80174000-80180000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:80174000-80180200	Weak transcription	Fetal Intestine Large	intestine
27	chr5:80174000-80180400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:80174000-80180600	Weak transcription	Fetal Intestine Small	intestine
29	chr5:80174000-80181000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:80174000-80181000	Weak transcription	NHEK	skin
31	chr5:80174000-80181400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:80174000-80181400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:80174000-80181400	Weak transcription	Osteobl	bone
34	chr5:80174000-80183000	Weak transcription	Gastric	stomach
35	chr5:80174000-80185000	Weak transcription	Thymus	Thymus
36	chr5:80174000-80185000	Weak transcription	Dnd41	blood
37	chr5:80174000-80185600	Weak transcription	Lung	lung
38	chr5:80174000-80186400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:80174000-80186400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr5:80174000-80186600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:80174000-80186600	Weak transcription	Fetal Lung	lung
42	chr5:80174000-80186800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:80174000-80187200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr5:80174000-80187200	Weak transcription	Right Ventricle	heart
45	chr5:80174000-80188200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr5:80174000-80188400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:80174000-80188400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:80174000-80188600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:80174000-80188600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:80174000-80190200	Weak transcription	Brain Anterior Caudate	brain

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