Variant report

Variant	nsv830458
Chromosome Location	chr5:116831747-117003041
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:10)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:116951542..116953877-chr5:116957366..116959083,2	K562	blood:
2	chr5:116884300..116886423-chr5:116888475..116890420,2	K562	blood:
3	chr5:116821234..116823544-chr5:116829349..116832247,2	MCF-7	breast:
4	chr5:116801751..116804534-chr5:116842472..116845368,2	K562	blood:
5	chr5:116847509..116849245-chr5:116850386..116852687,2	MCF-7	breast:
6	chr5:116951542..116953877-chr5:116957366..116959083,2	K562	blood:
7	chr5:116884300..116886423-chr5:116888475..116890420,2	K562	blood:
8	chr5:116929272..116931860-chr5:116932599..116935583,2	MCF-7	breast:
9	chr5:116929272..116931860-chr5:116932599..116935583,2	MCF-7	breast:
10	chr5:116847509..116849245-chr5:116850386..116852687,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COMMD10-12	chr5:116842575-116842798	l_3001_chr5:116779094-116842761_testes
2	lnc-COMMD10-5	chr5:116881794-116881993	ENSG00000248663
3	lnc-COMMD10-5	chr5:116881794-116881891	NONHSAT103387
4	lnc-COMMD10-5	chr5:116891341-116891475	NONHSAT103387
5	lnc-COMMD10-5	chr5:116912943-116915439	NONHSAT103387
6	lnc-COMMD10-12	chr5:116835496-116835532	l_3001_chr5:116779094-116842761_testes
7	lnc-COMMD10-12	chr5:116858885-116859204	l_3001_chr5:116779094-116842761_testes
8	lnc-COMMD10-12	chr5:116871207-116871314	l_3001_chr5:116779094-116842761_testes
9	lnc-COMMD10-12	chr5:116842809-116842913	l_3001_chr5:116779094-116842761_testes

No data

Extended variants
information (count: 2783 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2783 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567685580	chr5:116831776-116831777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138386081	chr5:116831804-116831805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555380470	chr5:116831842-116831843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575533932	chr5:116831843-116831844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544173709	chr5:116831876-116831877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557567420	chr5:116831899-116831900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555616458	chr5:116831907-116831908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75088870	chr5:116831924-116831925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186064830	chr5:116831964-116831965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62380135	chr5:116832019-116832020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200667019	chr5:116832021-116832022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559772348	chr5:116832066-116832067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2560633	chr5:116832088-116832089	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541451685	chr5:116832093-116832094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189739441	chr5:116832162-116832163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562342647	chr5:116832170-116832171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563041168	chr5:116832192-116832193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532061600	chr5:116832226-116832227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145583212	chr5:116832275-116832276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530482441	chr5:116832276-116832277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17141934	chr5:116832285-116832286	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2624562	chr5:116832462-116832463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547911653	chr5:116832484-116832485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567708770	chr5:116832549-116832550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536337286	chr5:116832560-116832561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374781957	chr5:116832577-116832578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182086051	chr5:116832613-116832614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556566244	chr5:116832635-116832636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17141946	chr5:116832664-116832665	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537765830	chr5:116832703-116832704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557605978	chr5:116832719-116832720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115306765	chr5:116832735-116832736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77489931	chr5:116832748-116832749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138152183	chr5:116832749-116832750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185550858	chr5:116832769-116832770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191332429	chr5:116832770-116832771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183573201	chr5:116832771-116832772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188622921	chr5:116832772-116832773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113429255	chr5:116832783-116832784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146470087	chr5:116832809-116832810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142649137	chr5:116832838-116832839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530116583	chr5:116832901-116832902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548048492	chr5:116832954-116832955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17141948	chr5:116832965-116832966	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs200881324	chr5:116832996-116832997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530238704	chr5:116832997-116832998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549974880	chr5:116833001-116833002	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144083003	chr5:116833036-116833037	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368494157	chr5:116833042-116833043	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62380136	chr5:116833050-116833051	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116829400-116834000	Enhancers	NHDF-Ad	bronchial
2	chr5:116830000-116833200	Weak transcription	Adipose Nuclei	Adipose
3	chr5:116831000-116832600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:116831600-116832000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:116832000-116834200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:116832600-116833000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:116833000-116833400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:116833200-116834200	Enhancers	Adipose Nuclei	Adipose
9	chr5:116833400-116833600	Enhancers	Ovary	ovary
10	chr5:116833400-116833800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:116833800-116834200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:116834000-116839800	Weak transcription	NHDF-Ad	bronchial
13	chr5:116834200-116834600	Weak transcription	Adipose Nuclei	Adipose
14	chr5:116834200-116839600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:116834600-116835400	Enhancers	Adipose Nuclei	Adipose
16	chr5:116835200-116835600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:116839600-116840600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:116839800-116841000	Enhancers	NHDF-Ad	bronchial
19	chr5:116840000-116840400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:116840200-116840800	Enhancers	Fetal Kidney	kidney
21	chr5:116841400-116842200	Enhancers	Fetal Muscle Leg	muscle
22	chr5:116849400-116849800	Enhancers	Adipose Nuclei	Adipose
23	chr5:116855600-116856000	Enhancers	Colon Smooth Muscle	Colon
24	chr5:116869000-116869400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr5:116873800-116874000	Enhancers	Fetal Kidney	kidney
26	chr5:116875800-116878600	Weak transcription	Fetal Kidney	kidney
27	chr5:116881800-116883600	Enhancers	NHEK	skin
28	chr5:116882000-116883600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:116882200-116882800	Enhancers	HMEC	breast
30	chr5:116882200-116883800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:116892600-116893000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:116894200-116896800	Enhancers	Liver	Liver
33	chr5:116894600-116895000	Enhancers	Fetal Intestine Small	intestine
34	chr5:116894600-116895200	Enhancers	Fetal Intestine Large	intestine
35	chr5:116895000-116896000	Weak transcription	Fetal Intestine Small	intestine
36	chr5:116896000-116896200	Enhancers	Fetal Intestine Small	intestine
37	chr5:116903400-116905400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:116903600-116905200	Enhancers	NHEK	skin
39	chr5:116903600-116905400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:116904400-116904800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr5:116918800-116919200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:116918800-116919400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:116919200-116919400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:116919400-116920200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:116920200-116920400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:116922200-116924000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:116922800-116923200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr5:116922800-116923400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:116922800-116923400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr5:116923000-116923800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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