Variant report

Variant	nsv960006
Chromosome Location	chr16:47435751-47460534
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:192021477..192022058-chr16:47435294..47435896,2	MCF-7	breast:
2	chr16:47432128..47434331-chr16:47440523..47442173,2	K562	blood:
3	chr16:47439487..47441195-chr16:47493204..47494931,2	K562	blood:
4	chr16:47441890..47444403-chr16:47493696..47496197,3	K562	blood:
5	chr16:47424343..47428876-chr16:47431366..47438255,7	K562	blood:
6	chr16:47449583..47451141-chr16:47452818..47455615,2	K562	blood:
7	chr16:47431082..47433440-chr16:47448856..47451690,2	K562	blood:
8	chr16:47449583..47451141-chr16:47452818..47455615,2	K562	blood:
9	chr16:47437100..47439827-chr16:47493895..47495575,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000129636	chromatin interactions
ENSG00000102893	chromatin interactions

Extended variants
information (count: 858 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:858 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553399493	chr16:47435754-47435755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569025399	chr16:47435813-47435814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116582464	chr16:47435878-47435879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531339000	chr16:47435906-47435907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9940019	chr16:47435923-47435924	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146883599	chr16:47435924-47435925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183400515	chr16:47435938-47435939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140702795	chr16:47435943-47435944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545673060	chr16:47435945-47435946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13334553	chr16:47436012-47436013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs13339357	chr16:47436017-47436018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs542781522	chr16:47436018-47436019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187249446	chr16:47436076-47436077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370145826	chr16:47436118-47436119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193174678	chr16:47436130-47436131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184550565	chr16:47436141-47436142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565586117	chr16:47436183-47436184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188290724	chr16:47436204-47436205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571267151	chr16:47436247-47436248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148129769	chr16:47436266-47436267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550458973	chr16:47436273-47436274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568987104	chr16:47436310-47436311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536433398	chr16:47436332-47436333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554435135	chr16:47436354-47436355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192790377	chr16:47436388-47436389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566320047	chr16:47436410-47436411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533823079	chr16:47436429-47436430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558597781	chr16:47436433-47436434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576901446	chr16:47436451-47436452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545764834	chr16:47436452-47436453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141039299	chr16:47436465-47436466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575784062	chr16:47436541-47436542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183775265	chr16:47436551-47436552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188401266	chr16:47436595-47436596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530309850	chr16:47436598-47436599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548713172	chr16:47436610-47436611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573005008	chr16:47436646-47436647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540320491	chr16:47436650-47436651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150231235	chr16:47436682-47436683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570119982	chr16:47436730-47436731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532349474	chr16:47436856-47436857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181885927	chr16:47436910-47436911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562815685	chr16:47436912-47436913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139117643	chr16:47436957-47436958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548366309	chr16:47436970-47436971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537476092	chr16:47437055-47437056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143036619	chr16:47437073-47437074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570810030	chr16:47437124-47437125	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs77676044	chr16:47437153-47437154	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs117338835	chr16:47437270-47437271	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	22341455	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47388600-47445000	Weak transcription	NHEK	skin
2	chr16:47393000-47458200	Weak transcription	Pancreas	Pancrea
3	chr16:47393000-47459000	Weak transcription	NHDF-Ad	bronchial
4	chr16:47397800-47458800	Weak transcription	Colonic Mucosa	Colon
5	chr16:47404400-47458800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:47404800-47444400	Weak transcription	Lung	lung
7	chr16:47404800-47444800	Weak transcription	Fetal Intestine Small	intestine
8	chr16:47404800-47458600	Weak transcription	Aorta	Aorta
9	chr16:47405600-47458200	Weak transcription	Brain Anterior Caudate	brain
10	chr16:47405800-47454000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr16:47409000-47450800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr16:47409600-47442400	Weak transcription	Hela-S3	cervix
13	chr16:47409600-47458600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr16:47409600-47458600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:47409800-47454000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr16:47409800-47454000	Weak transcription	HSMM	muscle
17	chr16:47410000-47458400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr16:47415000-47444400	Weak transcription	Fetal Stomach	stomach
19	chr16:47417800-47447000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr16:47419200-47444600	Weak transcription	Spleen	Spleen
21	chr16:47421800-47450600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:47424600-47458400	Weak transcription	Brain Angular Gyrus	brain
23	chr16:47426400-47444600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:47426400-47444800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr16:47426400-47458600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:47426400-47482800	Weak transcription	NH-A	brain
27	chr16:47426600-47444400	Weak transcription	Thymus	Thymus
28	chr16:47426600-47444600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr16:47426600-47445000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr16:47426600-47447000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr16:47426600-47454200	Weak transcription	GM12878-XiMat	blood
32	chr16:47426600-47458600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr16:47426600-47459000	Weak transcription	Osteobl	bone
34	chr16:47427000-47445000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr16:47427000-47445200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr16:47427200-47444800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr16:47427200-47445200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr16:47427200-47445200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr16:47427200-47458600	Weak transcription	Gastric	stomach
40	chr16:47428600-47458200	Weak transcription	Brain Substantia Nigra	brain
41	chr16:47428600-47458600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:47430200-47444400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr16:47430200-47445200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr16:47430200-47458800	Weak transcription	Right Ventricle	heart
45	chr16:47430400-47444600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr16:47430400-47485600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr16:47430600-47444400	Weak transcription	HepG2	liver
48	chr16:47430600-47458200	Weak transcription	Fetal Muscle Leg	muscle
49	chr16:47430600-47458600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr16:47430600-47458600	Weak transcription	Primary hematopoietic stem cells	blood

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