Variant report

Variant	nsv963372
Chromosome Location	chr3:160218056-160219348
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:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:160204576..160208180-chr3:160214688..160218928,3	MCF-7	breast:
2	chr3:160214963..160217572-chr3:160217602..160219755,2	MCF-7	breast:
3	chr3:160209467..160214464-chr3:160215473..160219309,5	K562	blood:
4	chr3:160216490..160219028-chr3:160268486..160271353,2	K562	blood:
5	chr3:160209082..160210967-chr3:160217809..160219865,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	KPNA4	hsa-miR-30a-5p	chr3:160218178-160218199

Extended variants
information (count: 30 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540506046	chr3:160218115-160218116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201233947	chr3:160218153-160218154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561587097	chr3:160218176-160218177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529054373	chr3:160218181-160218182	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
5	rs367554028	chr3:160218268-160218269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11919332	chr3:160218485-160218486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561812249	chr3:160218502-160218503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528888840	chr3:160218647-160218648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543958485	chr3:160218662-160218663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562255165	chr3:160218671-160218672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376644547	chr3:160218772-160218773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11553778	chr3:160218779-160218780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547368213	chr3:160218780-160218781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551116416	chr3:160218828-160218829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566445066	chr3:160218878-160218879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528821106	chr3:160218959-160218960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190963374	chr3:160218964-160218965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559702994	chr3:160218995-160218996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568723890	chr3:160219018-160219019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533227768	chr3:160219050-160219051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536064202	chr3:160219052-160219053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200652983	chr3:160219066-160219067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372903265	chr3:160219076-160219077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144391557	chr3:160219083-160219084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200015946	chr3:160219096-160219097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11553776	chr3:160219121-160219122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201453875	chr3:160219253-160219254	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs549278289	chr3:160219278-160219279	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs569273314	chr3:160219290-160219291	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs374033230	chr3:160219298-160219299	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160204000-160219000	Weak transcription	Lung	lung
2	chr3:160204000-160219000	Weak transcription	Thymus	Thymus
3	chr3:160204000-160224000	Weak transcription	Gastric	stomach
4	chr3:160204000-160238200	Weak transcription	Small Intestine	intestine
5	chr3:160204200-160218800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:160204200-160218800	Weak transcription	Fetal Intestine Large	intestine
7	chr3:160204200-160219000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:160204200-160219000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:160204200-160219000	Weak transcription	NHEK	skin
10	chr3:160204200-160219200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:160204200-160219200	Weak transcription	Aorta	Aorta
12	chr3:160204200-160219200	Weak transcription	Left Ventricle	heart
13	chr3:160204200-160219400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:160204200-160224400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:160204200-160224800	Weak transcription	GM12878-XiMat	blood
16	chr3:160204200-160225400	Weak transcription	Fetal Kidney	kidney
17	chr3:160209200-160218600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:160209200-160219200	Weak transcription	Fetal Stomach	stomach
19	chr3:160209800-160218600	Weak transcription	HSMMtube	muscle
20	chr3:160210200-160218400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:160210200-160219000	Weak transcription	Brain Anterior Caudate	brain
22	chr3:160210600-160219200	Weak transcription	Fetal Lung	lung
23	chr3:160212000-160220400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:160212400-160219200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr3:160212600-160218200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr3:160213000-160218800	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:160213000-160219200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:160213000-160220200	Weak transcription	Fetal Intestine Small	intestine
29	chr3:160213000-160228600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:160213200-160219200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:160213200-160219200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr3:160213200-160222800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr3:160213400-160219200	Weak transcription	Fetal Muscle Leg	muscle
34	chr3:160213600-160223800	Weak transcription	Psoas Muscle	Psoas
35	chr3:160214000-160219200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr3:160214400-160218200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr3:160214600-160218800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:160214600-160219200	Weak transcription	Fetal Brain Female	brain
39	chr3:160214800-160218200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:160214800-160218600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:160214800-160219200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr3:160214800-160219200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr3:160215000-160218400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr3:160215000-160219200	Weak transcription	Ovary	ovary
45	chr3:160215000-160225400	Weak transcription	Fetal Heart	heart
46	chr3:160215200-160218400	Weak transcription	NHLF	lung
47	chr3:160215200-160219000	Weak transcription	K562	blood
48	chr3:160215600-160218400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr3:160215600-160219000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr3:160215600-160228200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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