Variant report

Variant	nsv882757
Chromosome Location	chr5:116810010-117042759
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:33)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:117005779..117008314-chr5:117034629..117036437,2	K562	blood:
2	chr5:116818267..116820596-chr5:116820773..116823516,3	MCF-7	breast:
3	chr5:116808790..116811030-chr5:116812517..116814152,2	MCF-7	breast:
4	chr5:116822579..116823522-chr5:117345341..117346279,5	MCF-7	breast:
5	chr5:116884300..116886423-chr5:116888475..116890420,2	K562	blood:
6	chr5:116693270..116694072-chr5:116822684..116823457,2	MCF-7	breast:
7	chr5:116790543..116792543-chr5:116819780..116821685,2	MCF-7	breast:
8	chr5:116818267..116820596-chr5:116820773..116823516,3	MCF-7	breast:
9	chr5:116801751..116804534-chr5:116842472..116845368,2	K562	blood:
10	chr5:116822796..116823373-chr5:117345646..117346259,4	MCF-7	breast:
11	chr5:116821234..116823544-chr5:116829349..116832247,2	MCF-7	breast:
12	chr5:116822477..116823522-chr5:117345341..117346321,14	MCF-7	breast:
13	chr5:116811651..116813275-chr5:116817751..116820499,2	MCF-7	breast:
14	chr5:116798602..116800963-chr5:116821842..116823358,2	MCF-7	breast:
15	chr5:116822600..116823429-chr5:117474971..117475497,2	MCF-7	breast:
16	chr5:116884300..116886423-chr5:116888475..116890420,2	K562	blood:
17	chr5:116847509..116849245-chr5:116850386..116852687,2	MCF-7	breast:
18	chr5:117005779..117008314-chr5:117034629..117036437,2	K562	blood:
19	chr5:116821234..116823544-chr5:116829349..116832247,2	MCF-7	breast:
20	chr5:116822706..116823238-chr5:118110990..118112031,3	MCF-7	breast:
21	chr5:116847509..116849245-chr5:116850386..116852687,2	MCF-7	breast:
22	chr5:116951542..116953877-chr5:116957366..116959083,2	K562	blood:
23	chr5:117005684..117008647-chr5:117010420..117012880,2	K562	blood:
24	chr5:116791346..116791870-chr5:116830163..116830664,2	MCF-7	breast:
25	chr5:116929272..116931860-chr5:116932599..116935583,2	MCF-7	breast:
26	chr5:116811651..116813275-chr5:116817751..116820499,2	MCF-7	breast:
27	chr5:116693270..116694072-chr5:116822684..116823457,3	MCF-7	breast:
28	chr5:116951542..116953877-chr5:116957366..116959083,2	K562	blood:
29	chr5:117005684..117008647-chr5:117010420..117012880,2	K562	blood:
30	chr5:116808790..116811030-chr5:116812517..116814152,2	MCF-7	breast:
31	chr5:116798578..116800970-chr5:116815011..116816649,2	MCF-7	breast:
32	chr5:116791221..116793114-chr5:116823128..116825426,2	MCF-7	breast:
33	chr5:116929272..116931860-chr5:116932599..116935583,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COMMD10-12	chr5:116818544-116819049	l_3001_chr5:116779094-116842761_testes
2	lnc-COMMD10-5	chr5:116881794-116881891	NONHSAT103387
3	lnc-COMMD10-12	chr5:116858885-116859204	l_3001_chr5:116779094-116842761_testes
4	lnc-COMMD10-5	chr5:116881794-116881993	ENSG00000248663
5	lnc-COMMD10-5	chr5:116891341-116891475	NONHSAT103387
6	lnc-COMMD10-5	chr5:116912943-116915439	NONHSAT103387
7	lnc-COMMD10-5	chr5:116814676-116815063	ENSG00000248663
8	lnc-COMMD10-12	chr5:116871207-116871314	l_3001_chr5:116779094-116842761_testes
9	lnc-COMMD10-12	chr5:116842575-116842798	l_3001_chr5:116779094-116842761_testes
10	lnc-COMMD10-12	chr5:116835496-116835532	l_3001_chr5:116779094-116842761_testes
11	lnc-COMMD10-12	chr5:116842809-116842913	l_3001_chr5:116779094-116842761_testes

No data

Variant related genes	Relation type
ENSG00000248663	chromatin interactions

Extended variants
information (count: 4103 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:4103 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73258819	chr5:116812416-116812417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570613215	chr5:116812444-116812445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539589320	chr5:116812461-116812462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546676506	chr5:116812483-116812484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190266795	chr5:116812485-116812486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540753271	chr5:116812513-116812514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540743911	chr5:116812530-116812531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555368123	chr5:116812541-116812542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535818689	chr5:116812542-116812543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554588255	chr5:116812564-116812565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376285595	chr5:116812568-116812569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574642870	chr5:116812639-116812640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536863393	chr5:116812652-116812653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73785769	chr5:116812712-116812713	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs182518250	chr5:116812731-116812732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61002039	chr5:116812738-116812739	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553091411	chr5:116812740-116812741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572779981	chr5:116812747-116812748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78428090	chr5:116812766-116812767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs71581285	chr5:116812846-116812847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562251660	chr5:116812863-116812864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531185627	chr5:116812916-116812917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141356144	chr5:116812934-116812935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116835149	chr5:116812935-116812936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368671741	chr5:116813019-116813020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112710059	chr5:116813155-116813156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533333356	chr5:116813163-116813164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564060853	chr5:116813182-116813183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532721289	chr5:116813204-116813205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546717259	chr5:116813260-116813261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2081859	chr5:116813281-116813282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs186845320	chr5:116813286-116813287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549319489	chr5:116813287-116813288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193167120	chr5:116813301-116813302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185043356	chr5:116813311-116813312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537398417	chr5:116813348-116813349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150610988	chr5:116813357-116813358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148966175	chr5:116813440-116813441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2099039	chr5:116813459-116813460	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs370498878	chr5:116813496-116813497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539624587	chr5:116813541-116813542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548900719	chr5:116813573-116813574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553128255	chr5:116813655-116813656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572863480	chr5:116813662-116813663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541462614	chr5:116813708-116813709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76659788	chr5:116813715-116813716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143709974	chr5:116813739-116813740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148088399	chr5:116813792-116813793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73785771	chr5:116813822-116813823	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs79205392	chr5:116813832-116813833	Enhancers	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
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:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116812400-116814800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:116812800-116813800	Enhancers	Adipose Nuclei	Adipose
3	chr5:116819400-116819600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:116819600-116822000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:116822000-116822800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:116822000-116823200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:116822000-116823200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr5:116822600-116823200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:116822600-116823200	Enhancers	NHDF-Ad	bronchial
10	chr5:116822800-116823400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:116823200-116824200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:116823200-116824200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:116823200-116824800	Weak transcription	NHDF-Ad	bronchial
14	chr5:116824200-116825200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:116824200-116826200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:116824400-116824600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr5:116824400-116825200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:116824800-116825200	Enhancers	NHDF-Ad	bronchial
19	chr5:116825200-116825800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:116825200-116829000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:116825200-116829400	Weak transcription	NHDF-Ad	bronchial
22	chr5:116825800-116826000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:116829000-116829200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:116829200-116829600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:116829200-116830200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:116829400-116830000	Enhancers	Adipose Nuclei	Adipose
27	chr5:116829400-116834000	Enhancers	NHDF-Ad	bronchial
28	chr5:116829600-116830000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:116829600-116830800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:116829800-116830200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:116830000-116831600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:116830000-116833200	Weak transcription	Adipose Nuclei	Adipose
33	chr5:116830200-116831000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:116831000-116832600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:116831600-116832000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:116832000-116834200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:116832600-116833000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:116833000-116833400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:116833200-116834200	Enhancers	Adipose Nuclei	Adipose
40	chr5:116833400-116833600	Enhancers	Ovary	ovary
41	chr5:116833400-116833800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:116833800-116834200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:116834000-116839800	Weak transcription	NHDF-Ad	bronchial
44	chr5:116834200-116834600	Weak transcription	Adipose Nuclei	Adipose
45	chr5:116834200-116839600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:116834600-116835400	Enhancers	Adipose Nuclei	Adipose
47	chr5:116835200-116835600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:116839600-116840600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:116839800-116841000	Enhancers	NHDF-Ad	bronchial
50	chr5:116840000-116840400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links