Variant report

Variant	nsv969440
Chromosome Location	chr6:119554594-119559045
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:31149433..31151344-chr6:119557133..119558665,2	K562	blood:
2	chr17:31149433..31150364-chr6:119558113..119558662,6	MCF-7	breast:
3	chr6:119558682..119563599-chr6:119563682..119567581,7	K562	blood:
4	chr17:31149419..31151377-chr6:119557104..119560086,5	MCF-7	breast:
5	chr21:9825830..9826433-chr6:119558579..119559086,2	MCF-7	breast:
6	chr2:133035208..133036380-chr6:119558135..119559188,4	MCF-7	breast:
7	chr6:119525280..119527680-chr6:119553192..119555553,2	MCF-7	breast:
8	chr6:119558122..119561935-chr6:119561959..119566839,6	K562	blood:
9	chr14:69094863..69095363-chr6:119558123..119558642,2	MCF-7	breast:
10	chr3:115538408..115539011-chr6:119558162..119559112,2	MCF-7	breast:
11	chr6:119548685..119550916-chr6:119553929..119555935,3	K562	blood:
12	chr17:31149674..31150358-chr6:119558127..119558653,2	MCF-7	breast:
13	chr2:133035372..133036357-chr6:119558115..119558640,6	MCF-7	breast:
14	chr22:25281279..25282799-chr6:119557135..119558635,2	MCF-7	breast:
15	chr2:133035511..133036512-chr6:119558095..119559109,4	MCF-7	breast:
16	chr2:133033539..133035957-chr6:119557078..119558606,2	K562	blood:
17	chr17:31149704..31150368-chr6:119558097..119558654,7	MCF-7	breast:
18	chr10:15761863..15762363-chr6:119558104..119558642,2	MCF-7	breast:
19	chr5:97899000..97899520-chr6:119558658..119559166,2	MCF-7	breast:
20	chr2:133034721..133036011-chr6:119558119..119559094,3	MCF-7	breast:
21	chr2:133034522..133037379-chr6:119557092..119560188,5	MCF-7	breast:
22	chr2:133034372..133035957-chr6:119557078..119558627,2	K562	blood:
23	chr17:31149607..31151366-chr6:119557105..119558640,4	MCF-7	breast:
24	chr21:9824262..9827048-chr6:119557117..119558628,2	MCF-7	breast:
25	chr17:31149136..31150335-chr6:119558116..119559093,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264462	chromatin interactions
ENSG00000259038	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000077943	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10457350	chr6:119554636-119554637	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187826504	chr6:119554649-119554650	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558759178	chr6:119554716-119554717	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572274634	chr6:119554765-119554766	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147131894	chr6:119554782-119554783	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542200366	chr6:119554836-119554837	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138672696	chr6:119554865-119554866	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192649036	chr6:119554870-119554871	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543431419	chr6:119554926-119554927	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9481892	chr6:119554934-119554935	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183976604	chr6:119554999-119555000	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149258246	chr6:119555008-119555009	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374543842	chr6:119555046-119555047	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559478206	chr6:119555049-119555050	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528651131	chr6:119555092-119555093	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144492602	chr6:119555145-119555146	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148439442	chr6:119555198-119555199	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74903799	chr6:119555243-119555244	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560721222	chr6:119555290-119555291	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529827467	chr6:119555293-119555294	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549475493	chr6:119555378-119555379	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543915606	chr6:119555381-119555382	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538891440	chr6:119555443-119555444	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527709125	chr6:119555462-119555463	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187776508	chr6:119555486-119555487	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117502387	chr6:119555491-119555492	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138387164	chr6:119555538-119555539	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142913803	chr6:119555551-119555552	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557037359	chr6:119555555-119555556	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574822621	chr6:119555580-119555581	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75759328	chr6:119555583-119555584	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371155323	chr6:119555584-119555585	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79807810	chr6:119555595-119555596	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6569057	chr6:119555660-119555661	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs114264741	chr6:119555667-119555668	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200933161	chr6:119555693-119555694	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545832433	chr6:119555704-119555705	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146131348	chr6:119555740-119555741	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376813263	chr6:119555832-119555833	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192693930	chr6:119555834-119555835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184813861	chr6:119555864-119555865	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539203975	chr6:119555882-119555883	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200621606	chr6:119555907-119555908	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542038766	chr6:119555912-119555913	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189667490	chr6:119555918-119555919	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557630821	chr6:119555926-119555927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140166550	chr6:119555927-119555928	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143916673	chr6:119555937-119555938	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368706802	chr6:119555973-119555974	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563236034	chr6:119555977-119555978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119519200-119558400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:119524800-119558400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:119525400-119556000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:119525400-119558400	Weak transcription	Small Intestine	intestine
5	chr6:119525800-119555800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:119526000-119555200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:119526000-119558400	Weak transcription	Placenta	Placenta
8	chr6:119526200-119558400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:119531600-119558400	Weak transcription	NHLF	lung
10	chr6:119537400-119556800	Weak transcription	Fetal Stomach	stomach
11	chr6:119537600-119558400	Weak transcription	Right Atrium	heart
12	chr6:119537800-119555600	Weak transcription	Left Ventricle	heart
13	chr6:119537800-119558400	Weak transcription	Ovary	ovary
14	chr6:119540000-119554800	Weak transcription	Gastric	stomach
15	chr6:119541000-119558400	Weak transcription	NHEK	skin
16	chr6:119545400-119556000	Weak transcription	Fetal Thymus	thymus
17	chr6:119545600-119556000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:119545600-119558400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:119546000-119556000	Weak transcription	Fetal Lung	lung
20	chr6:119547200-119556200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr6:119547200-119558400	Weak transcription	Spleen	Spleen
22	chr6:119547400-119583000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:119547600-119556000	Weak transcription	NHDF-Ad	bronchial
24	chr6:119547600-119558400	Weak transcription	Esophagus	oesophagus
25	chr6:119547600-119558400	Weak transcription	Pancreas	Pancrea
26	chr6:119547600-119558400	Weak transcription	Thymus	Thymus
27	chr6:119548800-119558400	Weak transcription	Primary T cells from cord blood	blood
28	chr6:119549000-119555600	Weak transcription	Aorta	Aorta
29	chr6:119549200-119556000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:119549800-119558400	Weak transcription	Lung	lung
31	chr6:119550000-119558400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:119550000-119561600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:119550800-119558400	Weak transcription	Right Ventricle	heart
34	chr6:119551200-119554600	Strong transcription	Liver	Liver
35	chr6:119551200-119556600	Weak transcription	Fetal Muscle Leg	muscle
36	chr6:119551200-119558400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr6:119551400-119556000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:119551400-119558400	Weak transcription	Dnd41	blood
39	chr6:119552200-119556000	Weak transcription	Adipose Nuclei	Adipose
40	chr6:119552200-119558400	Weak transcription	HUVEC	blood vessel
41	chr6:119552400-119555600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:119552400-119556000	Weak transcription	Primary B cells from cord blood	blood
43	chr6:119552400-119558400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr6:119552800-119555800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr6:119552800-119555800	Weak transcription	K562	blood
46	chr6:119553000-119555600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:119553000-119556400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:119553000-119558400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr6:119553200-119555600	Weak transcription	HepG2	liver
50	chr6:119553200-119556000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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