Variant report

Variant	esv3331161
Chromosome Location	chr16:81382226-81382384
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81381387..81385191-chr16:81386059..81389530,5	K562	blood:
2	chr16:81348222..81350372-chr16:81380665..81382288,2	MCF-7	breast:
3	chr16:81380592..81382796-chr16:81403819..81406322,2	K562	blood:
4	chr16:81353685..81355203-chr16:81380884..81382518,2	MCF-7	breast:
5	chr16:81343775..81345598-chr16:81381932..81384912,2	MCF-7	breast:
6	chr16:81068493..81070605-chr16:81379712..81382493,2	MCF-7	breast:
7	chr16:81382053..81384349-chr16:81385028..81387799,2	MCF-7	breast:
8	chr16:81327170..81331013-chr16:81381065..81384742,3	MCF-7	breast:
9	chr16:81347335..81348972-chr16:81380044..81382271,2	MCF-7	breast:
10	chr16:81294148..81296098-chr16:81380878..81383413,2	MCF-7	breast:
11	chr16:81381387..81384964-chr16:81385741..81388867,5	K562	blood:
12	chr16:81380543..81383435-chr16:81390394..81393830,4	K562	blood:
13	chr16:81348167..81351482-chr16:81382300..81384779,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166454	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000261609	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537631305	chr16:81382246-81382247	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs559241168	chr16:81382255-81382256	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs114957962	chr16:81382263-81382264	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs541129621	chr16:81382265-81382266	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs1981884	chr16:81382267-81382268	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs574395329	chr16:81382277-81382278	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs138959333	chr16:81382295-81382296	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs563227308	chr16:81382303-81382304	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs182645702	chr16:81382312-81382313	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs140668400	chr16:81382376-81382377	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81353400-81390400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:81354200-81391600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr16:81379400-81410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:81380600-81388000	Weak transcription	Lung	lung
5	chr16:81380600-81396200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:81381000-81385200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:81381000-81392600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr16:81381200-81385200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:81381200-81385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:81381200-81385200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr16:81381200-81387600	Weak transcription	HepG2	liver
12	chr16:81381200-81388000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr16:81381200-81388000	Weak transcription	HMEC	breast
14	chr16:81381200-81390200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr16:81381200-81390400	Weak transcription	Brain Substantia Nigra	brain
16	chr16:81381200-81391000	Weak transcription	Osteobl	bone
17	chr16:81381200-81396000	Weak transcription	Right Ventricle	heart
18	chr16:81381400-81385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:81381400-81385400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:81381800-81385400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:81381800-81387200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr16:81382000-81382400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr16:81382000-81382600	ZNF genes & repeats	A549	lung
24	chr16:81382000-81387200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr16:81382000-81388600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr16:81382200-81382400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr16:81382200-81382400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:81382200-81382400	ZNF genes & repeats	Aorta	Aorta
29	chr16:81382200-81382400	Enhancers	Pancreas	Pancrea
30	chr16:81382200-81382400	Enhancers	Small Intestine	intestine
31	chr16:81382200-81382400	Enhancers	Stomach Smooth Muscle	stomach
32	chr16:81382200-81382600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:81382200-81383400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr16:81382200-81384000	Enhancers	Stomach Mucosa	stomach
35	chr16:81382200-81385200	Weak transcription	Primary B cells from cord blood	blood
36	chr16:81382200-81385200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:81382200-81385200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr16:81382200-81388000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr16:81382200-81390200	Weak transcription	NHEK	skin
40	chr16:81382200-81391400	Weak transcription	Fetal Heart	heart

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