Variant report

Variant	nsv965228
Chromosome Location	chr3:160968916-160969759
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:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:160946584..160950136-chr3:160968989..160972696,3	MCF-7	breast:
2	chr3:160951586..160954326-chr3:160968656..160971619,2	K562	blood:
3	chr3:160968713..160970320-chr3:160973701..160975272,2	MCF-7	breast:
4	chr3:160938087..160941385-chr3:160967882..160971966,4	MCF-7	breast:
5	chr3:160962204..160965974-chr3:160967847..160971324,6	MCF-7	breast:
6	chr3:160966881..160969999-chr3:161088010..161091164,3	MCF-7	breast:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	NMD3	hsa-miR-16-5p	chr3:160969439-160969460
2	NMD3	hsa-miR-155-5p	chr3:160969102-160969122

Variant related genes	Relation type
ENSG00000196542	chromatin interactions
ENSG00000271052	chromatin interactions
ENSG00000169251	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140416141	chr3:160968924-160968925	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs144287560	chr3:160968927-160968928	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs190319579	chr3:160968977-160968978	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs558601865	chr3:160969001-160969002	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs147779710	chr3:160969037-160969038	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs538592481	chr3:160969083-160969084	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs558387612	chr3:160969106-160969107	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region miRNA target site	4 gene(s)	Overlapped CNVs	n/a
8	rs571758111	chr3:160969196-160969197	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs4493449	chr3:160969268-160969269	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182932182	chr3:160969307-160969308	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs574420932	chr3:160969344-160969345	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs544522200	chr3:160969381-160969382	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs556384505	chr3:160969491-160969492	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs563565499	chr3:160969515-160969516	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs187487310	chr3:160969523-160969524	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs532424563	chr3:160969586-160969587	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs192195846	chr3:160969600-160969601	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs6788526	chr3:160969614-160969615	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145413697	chr3:160969660-160969661	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs574588340	chr3:160969664-160969665	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs548846332	chr3:160969697-160969698	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs568646500	chr3:160969727-160969728	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs531268903	chr3:160969733-160969734	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs551004251	chr3:160969734-160969735	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs149206227	chr3:160969738-160969739	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	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
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160939800-160995800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:160940000-160971600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:160940000-160977400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:160941000-160969600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:160941000-160970200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:160941000-160974800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:160941000-160983000	Weak transcription	Spleen	Spleen
8	chr3:160941000-160984600	Weak transcription	Small Intestine	intestine
9	chr3:160941000-160993400	Weak transcription	Pancreas	Pancrea
10	chr3:160941200-160969800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:160941200-160973400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:160941400-160971800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:160941600-160969800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:160941600-160975400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:160941800-160975200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:160942200-160973200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:160942400-160975200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr3:160942600-160971800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:160942600-160972600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:160942600-160973400	Strong transcription	Fetal Thymus	thymus
21	chr3:160942600-160975000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:160942600-160976600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:160942800-160971800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:160942800-160973800	Strong transcription	NH-A	brain
25	chr3:160942800-160978000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:160943600-160977200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:160946400-160972800	Strong transcription	HSMM	muscle
28	chr3:160947200-160972600	Weak transcription	Stomach Mucosa	stomach
29	chr3:160947400-160973600	Strong transcription	HUVEC	blood vessel
30	chr3:160948800-160971600	Weak transcription	Aorta	Aorta
31	chr3:160948800-160978000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:160949200-160971200	Weak transcription	Brain Substantia Nigra	brain
33	chr3:160949800-160971200	Weak transcription	Fetal Heart	heart
34	chr3:160950000-160969600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:160950000-160978000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:160950200-160976600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:160950600-160972800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr3:160950800-160971200	Strong transcription	NHDF-Ad	bronchial
39	chr3:160951000-160976600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:160951400-160970400	Strong transcription	Hela-S3	cervix
41	chr3:160951400-160973600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr3:160951400-160975200	Strong transcription	Osteobl	bone
43	chr3:160951600-160975000	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr3:160951600-160976600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:160952800-160969600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr3:160955000-160975400	Strong transcription	Fetal Intestine Large	intestine
47	chr3:160955600-160969800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:160955800-160971800	Strong transcription	Placenta	Placenta
49	chr3:160955800-160972800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr3:160955800-160973400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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