Variant report

Variant	esv3430479
Chromosome Location	chr16:80966714-80966895
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80966352..80966940-chr8:79864857..79865857,2	Hela-S3	cervix:
2	chr16:80950553..80953339-chr16:80965421..80967122,2	MCF-7	breast:
3	chr16:80965383..80968097-chr16:81038708..81041560,2	MCF-7	breast:
4	chr16:80963937..80967554-chr16:80967751..80972204,4	K562	blood:
5	chr16:80966267..80966896-chr17:41393079..41393786,2	Hela-S3	cervix:
6	chr16:80957146..80959233-chr16:80965352..80966876,2	MCF-7	breast:
7	chr16:80964917..80968271-chr16:80970129..80973008,4	MCF-7	breast:
8	chr11:65272537..65273491-chr16:80966234..80966909,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000103121	chromatin interactions
ENSG00000166451	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533960692	chr16:80966760-80966761	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs570080341	chr16:80966768-80966769	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs553996667	chr16:80966787-80966788	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs148334528	chr16:80966803-80966804	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573835935	chr16:80966804-80966805	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs77287213	chr16:80966827-80966828	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs7199497	chr16:80966844-80966845	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183742927	chr16:80966847-80966848	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs16954313	chr16:80966875-80966876	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542129135	chr16:80966878-80966879	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs562913038	chr16:80966890-80966891	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80965000-80966800	Active TSS	Hela-S3	cervix
2	chr16:80965600-80966800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr16:80965600-80966800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr16:80965600-80966800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr16:80965600-80966800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:80965600-80966800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:80965600-80966800	Active TSS	Brain Anterior Caudate	brain
8	chr16:80965600-80966800	Active TSS	Brain Hippocampus Middle	brain
9	chr16:80965600-80966800	Active TSS	Ovary	ovary
10	chr16:80965600-80966800	Active TSS	Psoas Muscle	Psoas
11	chr16:80965600-80966800	Active TSS	Rectal Smooth Muscle	rectum
12	chr16:80965600-80967000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr16:80965600-80967000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr16:80965600-80967000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:80965600-80967000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:80965600-80967000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr16:80965600-80967000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr16:80965600-80967000	Active TSS	Aorta	Aorta
19	chr16:80965600-80967000	Flanking Active TSS	Liver	Liver
20	chr16:80965600-80967000	Active TSS	Brain Cingulate Gyrus	brain
21	chr16:80965600-80967000	Active TSS	A549	lung
22	chr16:80965600-80967000	Active TSS	HSMM	muscle
23	chr16:80965600-80967000	Active TSS	NHLF	lung
24	chr16:80965800-80966800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr16:80965800-80966800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr16:80965800-80966800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr16:80965800-80966800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:80965800-80966800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr16:80965800-80966800	Flanking Active TSS	Placenta	Placenta
30	chr16:80965800-80967000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:80965800-80967000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr16:80965800-80967000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr16:80965800-80967000	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr16:80966000-80966800	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr16:80966000-80966800	Enhancers	Spleen	Spleen
36	chr16:80966000-80967000	Active TSS	Brain Angular Gyrus	brain
37	chr16:80966000-80967000	Enhancers	Fetal Brain Male	brain
38	chr16:80966000-80967000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr16:80966000-80967000	Flanking Active TSS	NHEK	skin
40	chr16:80966200-80966800	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr16:80966200-80967000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
42	chr16:80966400-80966800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
43	chr16:80966400-80966800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:80966400-80966800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr16:80966400-80966800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr16:80966400-80966800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
47	chr16:80966400-80966800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:80966400-80966800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
49	chr16:80966400-80966800	Bivalent Enhancer	Fetal Thymus	thymus
50	chr16:80966400-80966800	Flanking Active TSS	Right Atrium	heart

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