Variant report

Variant	nsv522616
Chromosome Location	chr5:115725791-115744515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115743076..115744681-chr5:115750729..115752483,2	MCF-7	breast:
2	chr5:115714143..115716016-chr5:115739014..115740918,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LVRN.1-4	chr5:115735179-115735319	NONHSAT103358

Extended variants
information (count: 801 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:801 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10477554	chr5:115725791-115725792	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs554573102	chr5:115725797-115725798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569963697	chr5:115725823-115725824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574417015	chr5:115725832-115725833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543121830	chr5:115725905-115725906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376131033	chr5:115725935-115725936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77144494	chr5:115725951-115725952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17164426	chr5:115725953-115725954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546024990	chr5:115725964-115725965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559780063	chr5:115725981-115725982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146371832	chr5:115726031-115726032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72810705	chr5:115726034-115726035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182661429	chr5:115726041-115726042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139180861	chr5:115726048-115726049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59324218	chr5:115726173-115726174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs145057544	chr5:115726176-115726177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557065187	chr5:115726183-115726184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539574983	chr5:115726205-115726206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574653550	chr5:115726208-115726209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534116029	chr5:115726239-115726240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538821412	chr5:115726259-115726260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371250116	chr5:115726298-115726299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61620790	chr5:115726301-115726302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs369788025	chr5:115726375-115726376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534934662	chr5:115726382-115726383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28602813	chr5:115726413-115726414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535273792	chr5:115726453-115726454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553600126	chr5:115726459-115726460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575040357	chr5:115726474-115726475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574096119	chr5:115726482-115726483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61449551	chr5:115726483-115726484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs546415740	chr5:115726493-115726494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192275429	chr5:115726516-115726517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576561368	chr5:115726532-115726533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4921097	chr5:115726543-115726544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149493986	chr5:115726549-115726550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528743625	chr5:115726554-115726555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58205664	chr5:115726560-115726561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377124866	chr5:115726571-115726572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554123700	chr5:115726580-115726581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35937383	chr5:115726637-115726638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397883641	chr5:115726646-115726647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542518703	chr5:115726649-115726650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7734111	chr5:115726682-115726683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs12657163	chr5:115726694-115726695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs11241387	chr5:115726709-115726710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs143870733	chr5:115726712-115726713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369222748	chr5:115726741-115726742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540093166	chr5:115726748-115726749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372507913	chr5:115726751-115726752	Weak transcription	n/a	n/a	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
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115697600-115748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:115707600-115748400	Weak transcription	Fetal Intestine Large	intestine
3	chr5:115708600-115754000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:115711800-115730600	Weak transcription	Gastric	stomach
5	chr5:115714400-115730200	Weak transcription	Right Ventricle	heart
6	chr5:115718400-115737000	Weak transcription	Primary B cells from cord blood	blood
7	chr5:115718600-115748400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:115718800-115731000	Weak transcription	Spleen	Spleen
9	chr5:115719400-115734800	Weak transcription	Primary T cells from cord blood	blood
10	chr5:115719600-115728000	Weak transcription	Fetal Intestine Small	intestine
11	chr5:115723000-115776000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:115723400-115730200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:115723600-115784800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr5:115724600-115729400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:115724800-115728000	Weak transcription	Psoas Muscle	Psoas
16	chr5:115724800-115729400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:115724800-115730200	Weak transcription	Esophagus	oesophagus
18	chr5:115724800-115730200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:115724800-115730200	Weak transcription	Left Ventricle	heart
20	chr5:115724800-115745600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:115724800-115749200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:115726200-115731600	Weak transcription	Aorta	Aorta
23	chr5:115728000-115728400	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr5:115728000-115728400	Enhancers	Psoas Muscle	Psoas
25	chr5:115728400-115729400	Weak transcription	Psoas Muscle	Psoas
26	chr5:115728400-115730800	Weak transcription	Fetal Intestine Small	intestine
27	chr5:115729400-115733200	Enhancers	Psoas Muscle	Psoas
28	chr5:115729400-115733200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr5:115729400-115733200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:115729600-115730000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:115730000-115731000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:115730000-115732800	Enhancers	Rectal Smooth Muscle	rectum
33	chr5:115730200-115730800	Enhancers	Stomach Smooth Muscle	stomach
34	chr5:115730200-115731600	Enhancers	Fetal Muscle Trunk	muscle
35	chr5:115730200-115731800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:115730200-115732600	Enhancers	Esophagus	oesophagus
37	chr5:115730200-115732600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr5:115730200-115732800	Enhancers	Fetal Muscle Leg	muscle
39	chr5:115730200-115732800	Enhancers	Left Ventricle	heart
40	chr5:115730200-115733000	Enhancers	Right Ventricle	heart
41	chr5:115730400-115731800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:115730400-115732400	Enhancers	Fetal Kidney	kidney
43	chr5:115730400-115733000	Enhancers	Colon Smooth Muscle	Colon
44	chr5:115730400-115769600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:115730600-115731000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:115730600-115731000	Enhancers	Gastric	stomach
47	chr5:115730600-115731800	Enhancers	Brain Anterior Caudate	brain
48	chr5:115730600-115732200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:115730600-115732400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr5:115730600-115732600	Enhancers	Brain Cingulate Gyrus	brain

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