Variant report

Variant	nsv599657
Chromosome Location	chr5:124284253-124330522
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:11)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:124321759..124324073-chr5:124324469..124327599,3	K562	blood:
2	chr5:124314982..124317852-chr5:124324896..124327856,2	K562	blood:
3	chr5:124282737..124284807-chr5:124288321..124290528,2	K562	blood:
4	chr5:124318965..124321778-chr5:124328719..124330379,2	K562	blood:
5	chr5:124321759..124324073-chr5:124324469..124327599,3	K562	blood:
6	chr5:124314982..124317852-chr5:124324896..124327856,2	K562	blood:
7	chr5:124318965..124321778-chr5:124328719..124330379,2	K562	blood:
8	chr5:124294502..124296880-chr5:124299033..124300860,2	K562	blood:
9	chr5:124294502..124296880-chr5:124299033..124300860,2	K562	blood:
10	chr5:124282737..124284807-chr5:124288321..124290528,2	K562	blood:
11	chr5:124277456..124281279-chr5:124283449..124286238,3	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-43D2.2.1-10	chr5:124315897-124317909	XLOC_004536
2	lnc-ZNF608-5	chr5:124329349-124329399	XLOC_004983
3	lnc-RP11-43D2.2.1-10	chr5:124310969-124311044	XLOC_004536
4	lnc-RP11-43D2.2.1-18	chr5:124326526-124326796	l_3007_chr5:124326525-124338943_testes
5	lnc-RP11-43D2.2.1-10	chr5:124298627-124298897	XLOC_004536
6	lnc-RP11-43D2.2.1-10	chr5:124298627-124298897	XLOC_004536

No data

Extended variants
information (count: 2149 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2149 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17254960	chr5:124284253-124284254	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149108542	chr5:124284285-124284286	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs528181025	chr5:124284335-124284336	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs34557673	chr5:124284427-124284428	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs548276339	chr5:124284472-124284473	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs143086541	chr5:124284544-124284545	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs190108809	chr5:124284583-124284584	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs540807748	chr5:124284588-124284589	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs13360384	chr5:124284632-124284633	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs4279337	chr5:124284656-124284657	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs181462836	chr5:124284730-124284731	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs564277739	chr5:124284741-124284742	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs138771080	chr5:124284770-124284771	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs74335514	chr5:124284771-124284772	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs533046484	chr5:124284824-124284825	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs145464150	chr5:124284832-124284833	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs529539360	chr5:124284872-124284873	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs561969856	chr5:124284913-124284914	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs76870976	chr5:124284927-124284928	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs539130812	chr5:124284932-124284933	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs551358070	chr5:124284959-124284960	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs186404785	chr5:124284964-124284965	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs141679348	chr5:124284966-124284967	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs377469225	chr5:124284968-124284969	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs73782528	chr5:124285000-124285001	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs376324073	chr5:124285030-124285031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555272027	chr5:124285039-124285040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200467698	chr5:124285043-124285044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573583880	chr5:124285055-124285056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534525814	chr5:124285072-124285073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4240382	chr5:124285111-124285112	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs572506010	chr5:124285132-124285133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35463794	chr5:124285136-124285137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545935639	chr5:124285164-124285165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528986641	chr5:124285184-124285185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537836049	chr5:124285210-124285211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373130158	chr5:124285216-124285217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10519791	chr5:124285243-124285244	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs375218355	chr5:124285286-124285287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2028855	chr5:124285289-124285290	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs552526259	chr5:124285353-124285354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576551384	chr5:124285380-124285381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543815535	chr5:124285381-124285382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs137932173	chr5:124285387-124285388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73304720	chr5:124285406-124285407	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs549971491	chr5:124285430-124285431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559641518	chr5:124285439-124285440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2028854	chr5:124285447-124285448	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs551237210	chr5:124285493-124285494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76214239	chr5:124285510-124285511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124283200-124286000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:124283400-124284400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:124283400-124285000	Enhancers	Fetal Kidney	kidney
4	chr5:124283400-124285600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:124283600-124284400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:124283600-124284600	Enhancers	Primary hematopoietic stem cells	blood
7	chr5:124283600-124284800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:124283600-124284800	Enhancers	Brain Germinal Matrix	brain
9	chr5:124283600-124285000	Enhancers	Fetal Muscle Leg	muscle
10	chr5:124283600-124285000	Enhancers	Dnd41	blood
11	chr5:124283600-124285000	Enhancers	HUVEC	blood vessel
12	chr5:124283800-124284600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
13	chr5:124283800-124284800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:124283800-124285000	Enhancers	Fetal Lung	lung
15	chr5:124283800-124285800	Enhancers	HMEC	breast
16	chr5:124283800-124286200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:124284000-124284400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr5:124284000-124284400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr5:124284000-124284400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:124284000-124284400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr5:124284000-124284400	Enhancers	Small Intestine	intestine
22	chr5:124284000-124284800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:124284000-124284800	Enhancers	Brain Anterior Caudate	brain
24	chr5:124284000-124284800	Enhancers	Brain Substantia Nigra	brain
25	chr5:124284000-124284800	Enhancers	HSMMtube	muscle
26	chr5:124284000-124285000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:124284000-124285400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:124284000-124285600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr5:124284000-124285600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:124284000-124285600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:124284000-124285800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:124284000-124285800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:124284000-124286000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr5:124284000-124286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:124284200-124284600	Enhancers	Brain Hippocampus Middle	brain
36	chr5:124284200-124285000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:124284200-124285000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:124284200-124285000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:124284200-124286000	Enhancers	Fetal Heart	heart
40	chr5:124284200-124301800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:124284600-124285600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:124284800-124285400	Enhancers	Adipose Nuclei	Adipose
43	chr5:124284800-124294000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:124285000-124285600	Weak transcription	Fetal Muscle Leg	muscle
45	chr5:124285000-124287200	Weak transcription	Dnd41	blood
46	chr5:124285000-124288800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:124285400-124286800	Weak transcription	Adipose Nuclei	Adipose
48	chr5:124285600-124285800	Enhancers	Fetal Muscle Leg	muscle
49	chr5:124285600-124292000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:124286000-124287200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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