Variant report

Variant	esv3401191
Chromosome Location	chr16:81492547-81492727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81480171..81484417-chr16:81492553..81495426,4	MCF-7	breast:
2	chr16:81478464..81481334-chr16:81489889..81494199,4	MCF-7	breast:
3	chr16:81490893..81492885-chr16:81614585..81616374,2	MCF-7	breast:
4	chr16:81489735..81495358-chr16:81495824..81502529,7	MCF-7	breast:
5	chr16:81482289..81484303-chr16:81490604..81493407,2	MCF-7	breast:
6	chr16:81484666..81489373-chr16:81491892..81496112,4	MCF-7	breast:
7	chr16:81490986..81492646-chr16:81531978..81534213,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575786270	chr16:81492586-81492587	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546385667	chr16:81492596-81492597	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375205338	chr16:81492599-81492600	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564121644	chr16:81492605-81492606	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200983960	chr16:81492608-81492609	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572994658	chr16:81492612-81492613	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540200415	chr16:81492613-81492614	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs202169397	chr16:81492619-81492620	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368974235	chr16:81492620-81492621	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs56096714	chr16:81492621-81492622	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs200528004	chr16:81492626-81492627	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs529164631	chr16:81492628-81492629	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544227623	chr16:81492630-81492631	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562694376	chr16:81492631-81492632	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374039769	chr16:81492642-81492643	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374039056	chr16:81492643-81492644	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79963262	chr16:81492650-81492651	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551168377	chr16:81492660-81492661	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs386792936	chr16:81492666-81492667	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535245144	chr16:81492667-81492668	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs146553656	chr16:81492668-81492669	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs55964899	chr16:81492672-81492673	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs199858187	chr16:81492679-81492680	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 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
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81481400-81496400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr16:81482000-81507000	Weak transcription	Fetal Heart	heart
3	chr16:81482800-81494400	Genic enhancers	Fetal Intestine Small	intestine
4	chr16:81485200-81492800	Enhancers	Pancreas	Pancrea
5	chr16:81485400-81497000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr16:81485600-81516800	Weak transcription	Hela-S3	cervix
7	chr16:81486000-81500200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:81486400-81501800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr16:81486600-81495800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:81486600-81502600	Weak transcription	Fetal Kidney	kidney
11	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr16:81486800-81493600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr16:81487000-81495200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr16:81487000-81500000	Weak transcription	Fetal Lung	lung
15	chr16:81487000-81504400	Weak transcription	Fetal Brain Male	brain
16	chr16:81487000-81507200	Weak transcription	Colon Smooth Muscle	Colon
17	chr16:81487200-81492600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:81487200-81496000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr16:81487800-81493200	Weak transcription	Left Ventricle	heart
20	chr16:81487800-81493400	Weak transcription	Brain Angular Gyrus	brain
21	chr16:81488400-81494000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr16:81488600-81494800	Genic enhancers	Esophagus	oesophagus
23	chr16:81488800-81494000	Strong transcription	Thymus	Thymus
24	chr16:81489000-81493800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:81489000-81499200	Strong transcription	Dnd41	blood
26	chr16:81489200-81492600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:81489200-81494600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr16:81489200-81495000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr16:81489400-81493400	Genic enhancers	Primary monocytes fromperipheralblood	blood
30	chr16:81489400-81493400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr16:81489400-81493600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:81489400-81493800	Strong transcription	Primary T cells from cord blood	blood
33	chr16:81489600-81493800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr16:81489800-81492800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr16:81489800-81493000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr16:81490000-81493000	Genic enhancers	Lung	lung
37	chr16:81490000-81495000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr16:81490200-81495400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr16:81490600-81496600	Enhancers	Liver	Liver
40	chr16:81490600-81509800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr16:81490800-81493800	Genic enhancers	Spleen	Spleen
42	chr16:81490800-81498800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr16:81490800-81499400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:81491000-81493400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr16:81491000-81494000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr16:81491000-81494400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr16:81491000-81494800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr16:81491000-81500000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr16:81491200-81492600	Enhancers	Brain Hippocampus Middle	brain
50	chr16:81491200-81492800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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