Variant report

Variant	nsv4990
Chromosome Location	chr5:126899519-126920342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126899630..126900600-chr5:127536748..127537750,4	K562	blood:
2	chr5:126899533..126900245-chr5:127196051..127196561,2	K562	blood:
3	chr5:126917170..126920076-chr5:126921694..126924670,2	K562	blood:
4	chr5:126899577..126900114-chr5:127311832..127312353,2	MCF-7	breast:
5	chr5:126912502..126914653-chr5:127418245..127420349,2	K562	blood:
6	chr5:126909121..126910836-chr5:126921023..126922690,2	K562	blood:
7	chr5:126899583..126900171-chr5:127536787..127537567,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064651	chromatin interactions
ENSG00000245937	chromatin interactions

Extended variants
information (count: 708 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:708 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561426962	chr5:126899550-126899551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536872789	chr5:126899562-126899563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576579447	chr5:126899577-126899578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78949587	chr5:126899608-126899609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556164980	chr5:126899639-126899640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs137970264	chr5:126899769-126899770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149466256	chr5:126899794-126899795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79941658	chr5:126899808-126899809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571794469	chr5:126899812-126899813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575443911	chr5:126899899-126899900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116561348	chr5:126899900-126899901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74706298	chr5:126899945-126899946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77442311	chr5:126900028-126900029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6892624	chr5:126900082-126900083	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147143698	chr5:126900088-126900089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140265250	chr5:126900106-126900107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549360689	chr5:126900116-126900117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145661298	chr5:126900138-126900139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188730964	chr5:126900148-126900149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147315778	chr5:126900173-126900174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79695163	chr5:126900176-126900177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551996093	chr5:126900191-126900192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571738361	chr5:126900219-126900220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180783217	chr5:126900236-126900237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550994060	chr5:126900287-126900288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567584731	chr5:126900360-126900361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186195842	chr5:126900362-126900363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77114854	chr5:126900396-126900397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554921951	chr5:126900411-126900412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571857077	chr5:126900432-126900433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534412293	chr5:126900444-126900445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190862859	chr5:126900445-126900446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536037374	chr5:126900505-126900506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577766902	chr5:126900554-126900555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182244673	chr5:126900586-126900587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187210109	chr5:126900600-126900601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151282098	chr5:126900636-126900637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563447980	chr5:126900649-126900650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73783903	chr5:126900655-126900656	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs73335012	chr5:126900731-126900732	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559778848	chr5:126900741-126900742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544301872	chr5:126900757-126900758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528636077	chr5:126900772-126900773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372975943	chr5:126900775-126900776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190446781	chr5:126900883-126900884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531028437	chr5:126900896-126900897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551138706	chr5:126900907-126900908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369831398	chr5:126900925-126900926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567647530	chr5:126900938-126900939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199639311	chr5:126900952-126900953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126871800-126901400	Weak transcription	Brain Substantia Nigra	brain
2	chr5:126888200-126901400	Weak transcription	Brain Anterior Caudate	brain
3	chr5:126888200-126901600	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:126888400-126901800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:126889600-126903000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:126890000-126899800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:126890000-126899800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:126890000-126899800	Weak transcription	HUVEC	blood vessel
9	chr5:126890000-126899800	Weak transcription	NHEK	skin
10	chr5:126890000-126900000	Weak transcription	Aorta	Aorta
11	chr5:126890000-126902200	Weak transcription	Fetal Thymus	thymus
12	chr5:126890000-126903400	Weak transcription	Primary T cells from cord blood	blood
13	chr5:126890200-126901600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:126890400-126901000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:126890400-126907000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:126890600-126899800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:126891200-126902800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:126891400-126900600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:126891600-126902800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:126897000-126900600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:126897200-126900000	Enhancers	Stomach Smooth Muscle	stomach
22	chr5:126897800-126899800	Enhancers	Fetal Lung	lung
23	chr5:126897800-126901200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr5:126897800-126901800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:126897800-126901800	Weak transcription	HSMM	muscle
26	chr5:126898000-126900200	Enhancers	Colon Smooth Muscle	Colon
27	chr5:126898000-126902600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:126898200-126900000	Weak transcription	HSMMtube	muscle
29	chr5:126898200-126903800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr5:126898400-126900000	Enhancers	Rectal Smooth Muscle	rectum
31	chr5:126898400-126900800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:126898400-126901200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:126898600-126899600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:126898600-126899600	Weak transcription	NHDF-Ad	bronchial
35	chr5:126898600-126900800	Weak transcription	Psoas Muscle	Psoas
36	chr5:126898800-126900400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr5:126899200-126903200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:126899600-126900000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr5:126899800-126900000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:126899800-126900000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:126899800-126900000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:126899800-126900000	Enhancers	Hela-S3	cervix
43	chr5:126899800-126900000	Enhancers	HUVEC	blood vessel
44	chr5:126899800-126900000	Enhancers	NHDF-Ad	bronchial
45	chr5:126899800-126900000	Enhancers	NHEK	skin
46	chr5:126899800-126900800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr5:126899800-126901000	Enhancers	GM12878-XiMat	blood
48	chr5:126900000-126900400	Enhancers	HSMMtube	muscle
49	chr5:126900000-126903200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr5:126900400-126904600	Enhancers	Primary hematopoietic stem cells	blood

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