Variant report

Variant	nsv5455
Chromosome Location	chr6:119794976-119839636
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:26)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119789332..119793434-chr6:119796076..119800106,5	K562	blood:
2	chr6:119784955..119788555-chr6:119797336..119801146,3	K562	blood:
3	chr6:119670561..119672309-chr6:119794675..119796222,2	K562	blood:
4	chr6:119821729..119823687-chr6:119833331..119835414,2	K562	blood:
5	chr6:119822678..119825294-chr6:119837894..119839723,2	MCF-7	breast:
6	chr6:119798609..119800243-chr6:119802774..119804740,2	K562	blood:
7	chr6:119789748..119793434-chr6:119796076..119799168,3	K562	blood:
8	chr6:119826693..119828704-chr6:119831138..119833641,2	K562	blood:
9	chr6:119822678..119825294-chr6:119837894..119839723,2	MCF-7	breast:
10	chr6:119800351..119802770-chr6:119806330..119807871,2	K562	blood:
11	chr6:119787516..119789829-chr6:119805762..119807377,2	MCF-7	breast:
12	chr6:119822862..119827390-chr6:119827842..119832153,6	K562	blood:
13	chr6:119801119..119803739-chr6:119829063..119831730,2	K562	blood:
14	chr6:119821729..119823687-chr6:119833331..119835414,2	K562	blood:
15	chr6:119826693..119828704-chr6:119831138..119833641,2	K562	blood:
16	chr6:119819182..119822549-chr6:119824303..119826707,4	K562	blood:
17	chr6:119822862..119827390-chr6:119827842..119832153,6	K562	blood:
18	chr6:119830042..119832839-chr6:119833435..119836310,3	K562	blood:
19	chr6:119666964..119669354-chr6:119827597..119829582,2	K562	blood:
20	chr6:119800351..119802770-chr6:119806330..119807871,2	K562	blood:
21	chr6:119834976..119836723-chr6:119847440..119850148,2	K562	blood:
22	chr6:119830042..119832839-chr6:119833435..119836310,3	K562	blood:
23	chr6:119801119..119803739-chr6:119829063..119831730,2	K562	blood:
24	chr6:119819182..119822549-chr6:119824303..119826707,4	K562	blood:
25	chr6:119798609..119800243-chr6:119802774..119804740,2	K562	blood:
26	chr6:119791969..119793912-chr6:119795861..119798849,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAN1A1-2	chr6:119818974-119819239	ucscGeneNc_uc003pyn_1
2	lnc-MAN1A1-2	chr6:119832461-119832578	ucscGeneNc_uc003pyn_1
3	lnc-ASF1A-7	chr6:119807968-119807976	NONHSAT114718
4	lnc-MAN1A1-2	chr6:119835287-119835320	ucscGeneNc_uc003pyn_1
5	lnc-MAN1A1-1	chr6:119800983-119801472	NONHSAT114715
6	lnc-MAN1A1-2	chr6:119816057-119818057	ucscGeneNc_uc003pyn_1
7	lnc-MAN1A1-1	chr6:119812331-119812467	XLOC_005819
8	lnc-MAN1A1-1	chr6:119812331-119812467	NONHSAT114715
9	lnc-MAN1A1-2	chr6:119819782-119820048	ucscGeneNc_uc003pyn_1
10	lnc-ASF1A-7	chr6:119801006-119804785	NONHSAT114718
11	lnc-MAN1A1-1	chr6:119812331-119812467	NONHSAT114717

No data

Variant related genes	Relation type
ENSG00000111885	chromatin interactions

Extended variants
information (count: 1339 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:1339 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559559052	chr6:119795064-119795065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191382445	chr6:119795093-119795094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs541594706	chr6:119795104-119795105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561561222	chr6:119795165-119795166	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs117068218	chr6:119795180-119795181	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs117265873	chr6:119795194-119795195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570752093	chr6:119795225-119795226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554967450	chr6:119795239-119795240	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183626501	chr6:119795280-119795281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188463182	chr6:119795319-119795320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75065209	chr6:119795328-119795329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556179499	chr6:119795331-119795332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536178577	chr6:119795352-119795353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549584736	chr6:119795385-119795386	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192540737	chr6:119795426-119795427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs367832828	chr6:119795463-119795464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536746001	chr6:119795519-119795520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557059708	chr6:119795562-119795563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576875430	chr6:119795627-119795628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs549563926	chr6:119795671-119795672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552570927	chr6:119795769-119795770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184766498	chr6:119795771-119795772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541755106	chr6:119795791-119795792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141889655	chr6:119795794-119795795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575141172	chr6:119795811-119795812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186871353	chr6:119795828-119795829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564560671	chr6:119795838-119795839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs533290434	chr6:119795867-119795868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs566285062	chr6:119795888-119795889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6899364	chr6:119795948-119795949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs529591122	chr6:119795952-119795953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs34406456	chr6:119795956-119795957	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs376318311	chr6:119795986-119795987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569464139	chr6:119796018-119796019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs576105783	chr6:119796036-119796037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191568174	chr6:119796051-119796052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184443164	chr6:119796060-119796061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375884493	chr6:119796064-119796065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs73768894	chr6:119796074-119796075	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368560119	chr6:119796091-119796092	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs117685232	chr6:119796128-119796129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552534272	chr6:119796139-119796140	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs6899913	chr6:119796275-119796276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs59905279	chr6:119796281-119796282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9374798	chr6:119796298-119796299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs555280066	chr6:119796411-119796412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575456393	chr6:119796418-119796419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371806024	chr6:119796432-119796433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6923080	chr6:119796471-119796472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs13203751	chr6:119796520-119796521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119792800-119800000	Weak transcription	K562	blood
2	chr6:119796800-119797400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr6:119796800-119798200	Enhancers	GM12878-XiMat	blood
4	chr6:119797200-119798800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:119797400-119797600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr6:119797400-119797600	Enhancers	Spleen	Spleen
7	chr6:119797400-119797800	Enhancers	Adipose Nuclei	Adipose
8	chr6:119797400-119797800	Enhancers	Ovary	ovary
9	chr6:119797400-119798200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:119797400-119798200	Enhancers	Primary hematopoietic stem cells	blood
11	chr6:119797400-119798200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr6:119797400-119798400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:119797400-119798600	Enhancers	Colon Smooth Muscle	Colon
14	chr6:119797600-119797800	Enhancers	Rectal Smooth Muscle	rectum
15	chr6:119797600-119798200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:119797600-119798200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr6:119797600-119799800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr6:119797600-119800600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:119797600-119805400	Weak transcription	Spleen	Spleen
20	chr6:119797800-119798200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr6:119797800-119800800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:119797800-119801200	Weak transcription	Adipose Nuclei	Adipose
23	chr6:119798200-119800600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:119798200-119801000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:119798200-119801000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:119798200-119801400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:119798400-119801200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:119798600-119801000	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:119798800-119801200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:119799800-119800200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:119800000-119803000	Enhancers	K562	blood
32	chr6:119800200-119802200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr6:119800400-119802600	Enhancers	Dnd41	blood
34	chr6:119800600-119801200	Enhancers	Small Intestine	intestine
35	chr6:119800600-119801400	Enhancers	Duodenum Mucosa	Duodenum
36	chr6:119800600-119801400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr6:119800600-119802200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr6:119800800-119801600	Enhancers	Rectal Smooth Muscle	rectum
39	chr6:119800800-119801800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr6:119801000-119801400	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr6:119801000-119801400	Enhancers	Stomach Smooth Muscle	stomach
42	chr6:119801000-119801600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr6:119801000-119801800	Enhancers	Liver	Liver
44	chr6:119801000-119801800	Enhancers	Fetal Intestine Small	intestine
45	chr6:119801000-119802000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr6:119801000-119802800	Enhancers	Primary hematopoietic stem cells	blood
47	chr6:119801000-119802800	Enhancers	Colon Smooth Muscle	Colon
48	chr6:119801000-119803800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:119801000-119803800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:119801000-119803800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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