Variant report

Variant	esv3350638
Chromosome Location	chr16:70493500-70494057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70487407..70489518-chr16:70493476..70494999,2	MCF-7	breast:
2	chr16:70411966..70415021-chr16:70491894..70494642,3	MCF-7	breast:
3	chr16:70488573..70491549-chr16:70492928..70496416,4	K562	blood:
4	chr16:70414009..70416973-chr16:70493742..70498097,6	MCF-7	breast:
5	chr16:70494008..70496807-chr2:138724427..138726798,2	MCF-7	breast:
6	chr16:70409390..70411008-chr16:70493324..70495460,2	MCF-7	breast:
7	chr16:70407277..70408933-chr16:70493231..70495760,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157353	chromatin interactions
ENSG00000260111	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 72 )

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	rs564658994	chr16:70493501-70493502	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs148538014	chr16:70493538-70493539	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs142888628	chr16:70493556-70493557	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs151084003	chr16:70493635-70493636	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs191458186	chr16:70493649-70493650	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529342284	chr16:70493657-70493658	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs547738757	chr16:70493680-70493681	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs560212735	chr16:70493691-70493692	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs17880346	chr16:70493692-70493693	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs141065580	chr16:70493698-70493699	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs183725316	chr16:70493705-70493706	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs570355260	chr16:70493706-70493707	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs75383696	chr16:70493708-70493709	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs138503014	chr16:70493709-70493710	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs537627474	chr16:70493714-70493715	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs544041312	chr16:70493748-70493749	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs549499516	chr16:70493770-70493771	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs557525026	chr16:70493774-70493775	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs567780887	chr16:70493806-70493807	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs577897271	chr16:70493828-70493829	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs13339593	chr16:70493891-70493892	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs13339561	chr16:70493959-70493960	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572657539	chr16:70493960-70493961	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs11649560	chr16:70493963-70493964	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558163090	chr16:70493988-70493989	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs13339643	chr16:70493989-70493990	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs528900710	chr16:70493997-70493998	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs544018083	chr16:70493998-70493999	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs564125150	chr16:70494008-70494009	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs187832845	chr16:70494048-70494049	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	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
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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20841430	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489200-70497200	Weak transcription	Aorta	Aorta
2	chr16:70489200-70506000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:70489200-70508800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:70489400-70494400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:70489400-70494400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr16:70489400-70494400	Weak transcription	Spleen	Spleen
7	chr16:70489400-70494600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:70489400-70494600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:70489400-70494600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr16:70489400-70494600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:70489400-70494600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr16:70489400-70494600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:70489400-70494600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:70489400-70494600	Weak transcription	Adipose Nuclei	Adipose
15	chr16:70489400-70494600	Weak transcription	Fetal Brain Female	brain
16	chr16:70489400-70494600	Weak transcription	Fetal Heart	heart
17	chr16:70489400-70494600	Weak transcription	Fetal Stomach	stomach
18	chr16:70489400-70494600	Weak transcription	HUVEC	blood vessel
19	chr16:70489400-70494600	Weak transcription	Osteobl	bone
20	chr16:70489400-70494800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr16:70489400-70494800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:70489400-70494800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr16:70489400-70494800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr16:70489400-70494800	Weak transcription	HSMMtube	muscle
25	chr16:70489400-70495000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:70489400-70495000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr16:70489400-70495000	Weak transcription	Left Ventricle	heart
28	chr16:70489400-70495400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr16:70489400-70495800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr16:70489400-70497000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr16:70489400-70497000	Weak transcription	Brain Anterior Caudate	brain
32	chr16:70489400-70497000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr16:70489400-70497000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr16:70489400-70497000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr16:70489400-70497000	Weak transcription	Thymus	Thymus
36	chr16:70489400-70497000	Weak transcription	NHLF	lung
37	chr16:70489400-70497200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr16:70489400-70497200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr16:70489400-70497200	Weak transcription	Primary B cells from cord blood	blood
40	chr16:70489400-70497200	Weak transcription	Brain Angular Gyrus	brain
41	chr16:70489400-70497200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr16:70489400-70497200	Weak transcription	Brain Hippocampus Middle	brain
43	chr16:70489400-70497200	Weak transcription	Colonic Mucosa	Colon
44	chr16:70489400-70497200	Weak transcription	Colon Smooth Muscle	Colon
45	chr16:70489400-70497200	Weak transcription	Gastric	stomach
46	chr16:70489400-70497200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr16:70489400-70497200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr16:70489400-70497400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr16:70489400-70497400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr16:70489400-70497400	Weak transcription	Ovary	ovary

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