Variant report

Variant	esv2223979
Chromosome Location	chr16:81523013-81523014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81522805..81524809-chr17:56735512..56737887,2	MCF-7	breast:
2	chr16:81520528..81523163-chr16:81525818..81527534,2	MCF-7	breast:
3	chr16:81522073..81525174-chr16:81527539..81530591,4	MCF-7	breast:
4	chr16:81520681..81522605-chr16:81522755..81525287,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	chromatin interactions
ENSG00000202077	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 70 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17197883	chr16:81523013-81523014	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:81505200-81525600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr16:81505800-81523600	Weak transcription	Fetal Brain Male	brain
4	chr16:81506000-81546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:81506600-81547000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:81510400-81533200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr16:81511400-81527000	Enhancers	Fetal Muscle Leg	muscle
8	chr16:81512400-81525000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:81515200-81531600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr16:81515200-81532600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr16:81515800-81523800	Enhancers	Brain Hippocampus Middle	brain
12	chr16:81516200-81525600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr16:81516400-81525800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:81516400-81525800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr16:81516600-81525800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr16:81516800-81525200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr16:81517200-81525600	Weak transcription	Small Intestine	intestine
18	chr16:81517400-81526400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:81517400-81526600	Weak transcription	Hela-S3	cervix
20	chr16:81517400-81531600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr16:81517600-81523800	Enhancers	Brain Anterior Caudate	brain
22	chr16:81517600-81526800	Genic enhancers	A549	lung
23	chr16:81517800-81523600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:81518200-81525400	Weak transcription	HMEC	breast
25	chr16:81518200-81527000	Weak transcription	Thymus	Thymus
26	chr16:81518400-81525400	Enhancers	NHDF-Ad	bronchial
27	chr16:81519400-81523200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr16:81519400-81523600	Enhancers	Brain Angular Gyrus	brain
29	chr16:81519400-81523800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr16:81519400-81523800	Enhancers	Ovary	ovary
31	chr16:81519400-81525400	Enhancers	Adipose Nuclei	Adipose
32	chr16:81519600-81523800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:81519600-81524200	Enhancers	Brain Cingulate Gyrus	brain
34	chr16:81519600-81532000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr16:81519800-81523200	Strong transcription	Fetal Intestine Small	intestine
36	chr16:81519800-81527200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr16:81520000-81523400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:81520000-81524600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr16:81520200-81523600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr16:81520200-81523800	Genic enhancers	HepG2	liver
41	chr16:81520200-81524800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr16:81520200-81525600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr16:81520200-81525800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr16:81520400-81532200	Enhancers	Spleen	Spleen
45	chr16:81520600-81524000	Enhancers	Duodenum Mucosa	Duodenum
46	chr16:81520600-81525600	Weak transcription	Fetal Heart	heart
47	chr16:81520600-81526800	Weak transcription	Dnd41	blood
48	chr16:81520800-81523200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:81520800-81523200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr16:81520800-81523400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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