Variant report

Variant	esv3330196
Chromosome Location	chr16:69844271-69844708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17240793	chr16:69844285-69844286	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541296132	chr16:69844318-69844319	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75146240	chr16:69844330-69844331	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77016506	chr16:69844332-69844333	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80009070	chr16:69844344-69844345	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78743502	chr16:69844345-69844346	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77211143	chr16:69844347-69844348	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561852743	chr16:69844358-69844359	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530959430	chr16:69844371-69844372	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374800347	chr16:69844416-69844417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567949867	chr16:69844431-69844432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150645041	chr16:69844456-69844457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553906486	chr16:69844469-69844470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530870830	chr16:69844488-69844489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565841043	chr16:69844503-69844504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539681785	chr16:69844534-69844535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs8059162	chr16:69844543-69844544	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs139836371	chr16:69844548-69844549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537169089	chr16:69844680-69844681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550581858	chr16:69844688-69844689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21611746	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69797600-69853400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:69807200-69852400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:69807200-69852800	Weak transcription	Hela-S3	cervix
4	chr16:69807200-69854800	Weak transcription	Psoas Muscle	Psoas
5	chr16:69817800-69854600	Weak transcription	HMEC	breast
6	chr16:69820200-69845000	Weak transcription	K562	blood
7	chr16:69822400-69854800	Weak transcription	Stomach Mucosa	stomach
8	chr16:69823800-69874800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr16:69824200-69852400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:69830200-69856600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr16:69830600-69857600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr16:69830600-69864200	Weak transcription	Colon Smooth Muscle	Colon
13	chr16:69830600-69867000	Weak transcription	Right Ventricle	heart
14	chr16:69831000-69845000	Weak transcription	Fetal Brain Male	brain
15	chr16:69831000-69845600	Weak transcription	A549	lung
16	chr16:69831000-69852400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr16:69831000-69852400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr16:69831000-69854800	Weak transcription	Aorta	Aorta
19	chr16:69831000-69856400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr16:69831200-69846200	Strong transcription	Fetal Intestine Small	intestine
21	chr16:69832400-69858400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr16:69833200-69854800	Weak transcription	NH-A	brain
23	chr16:69833400-69852400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:69833400-69854600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr16:69833400-69854600	Weak transcription	NHLF	lung
26	chr16:69833600-69845600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:69833600-69847800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr16:69833800-69847800	Weak transcription	Adipose Nuclei	Adipose
29	chr16:69833800-69854400	Weak transcription	Osteobl	bone
30	chr16:69833800-69854600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr16:69833800-69854800	Weak transcription	HSMM	muscle
32	chr16:69833800-69854800	Weak transcription	HSMMtube	muscle
33	chr16:69833800-69857600	Weak transcription	Small Intestine	intestine
34	chr16:69833800-69864400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr16:69833800-69874600	Weak transcription	Dnd41	blood
36	chr16:69833800-69875600	Weak transcription	NHEK	skin
37	chr16:69834000-69847600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:69834000-69850400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr16:69834000-69852400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr16:69834000-69852400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr16:69834000-69852400	Weak transcription	Fetal Brain Female	brain
42	chr16:69834000-69854400	Weak transcription	Fetal Kidney	kidney
43	chr16:69834000-69855000	Weak transcription	Brain Germinal Matrix	brain
44	chr16:69834000-69910600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr16:69834200-69846000	Weak transcription	Fetal Muscle Leg	muscle
46	chr16:69834200-69851600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr16:69834200-69851600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:69834200-69852400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr16:69834200-69857800	Weak transcription	Left Ventricle	heart
50	chr16:69834200-69892200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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