Variant report

Variant	esv3347027
Chromosome Location	chr16:80966094-80966483
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	chr16:80957146..80959233-chr16:80965352..80966876,2	MCF-7	breast:
2	chr16:80966352..80966940-chr8:79864857..79865857,2	Hela-S3	cervix:
3	chr16:80950553..80953339-chr16:80965421..80967122,2	MCF-7	breast:
4	chr16:80963937..80967554-chr16:80967751..80972204,4	K562	blood:
5	chr16:80965383..80968097-chr16:81038708..81041560,2	MCF-7	breast:
6	chr16:80966267..80966896-chr17:41393079..41393786,2	Hela-S3	cervix:
7	chr11:65272537..65273491-chr16:80966234..80966909,2	Hela-S3	cervix:
8	chr16:80964917..80968271-chr16:80970129..80973008,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166451	chromatin interactions
ENSG00000103121	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566058711	chr16:80966108-80966109	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs34459368	chr16:80966127-80966128	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12716901	chr16:80966137-80966138	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576557755	chr16:80966181-80966182	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs543906388	chr16:80966222-80966223	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs186377596	chr16:80966228-80966229	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs34841487	chr16:80966230-80966231	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs377109876	chr16:80966267-80966268	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs539972790	chr16:80966296-80966297	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs541338174	chr16:80966325-80966326	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs527503908	chr16:80966339-80966340	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs369334845	chr16:80966361-80966362	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs113115545	chr16:80966393-80966394	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs143286404	chr16:80966469-80966470	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers	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:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80965000-80966800	Active TSS	Hela-S3	cervix
2	chr16:80965400-80966400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:80965400-80966600	Flanking Active TSS	HUVEC	blood vessel
4	chr16:80965600-80966400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr16:80965600-80966400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:80965600-80966400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr16:80965600-80966400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr16:80965600-80966400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:80965600-80966400	Active TSS	Fetal Brain Female	brain
10	chr16:80965600-80966400	Active TSS	Fetal Intestine Large	intestine
11	chr16:80965600-80966400	Active TSS	Stomach Smooth Muscle	stomach
12	chr16:80965600-80966400	Active TSS	NHDF-Ad	bronchial
13	chr16:80965600-80966600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:80965600-80966600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr16:80965600-80966600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:80965600-80966600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr16:80965600-80966600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr16:80965600-80966600	Active TSS	Colon Smooth Muscle	Colon
19	chr16:80965600-80966600	Active TSS	Duodenum Mucosa	Duodenum
20	chr16:80965600-80966600	Active TSS	Fetal Kidney	kidney
21	chr16:80965600-80966600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr16:80965600-80966600	Bivalent/Poised TSS	Fetal Stomach	stomach
23	chr16:80965600-80966600	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr16:80965600-80966800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr16:80965600-80966800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr16:80965600-80966800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr16:80965600-80966800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:80965600-80966800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr16:80965600-80966800	Active TSS	Brain Anterior Caudate	brain
30	chr16:80965600-80966800	Active TSS	Brain Hippocampus Middle	brain
31	chr16:80965600-80966800	Active TSS	Ovary	ovary
32	chr16:80965600-80966800	Active TSS	Psoas Muscle	Psoas
33	chr16:80965600-80966800	Active TSS	Rectal Smooth Muscle	rectum
34	chr16:80965600-80967000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr16:80965600-80967000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr16:80965600-80967000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr16:80965600-80967000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr16:80965600-80967000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr16:80965600-80967000	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr16:80965600-80967000	Active TSS	Aorta	Aorta
41	chr16:80965600-80967000	Flanking Active TSS	Liver	Liver
42	chr16:80965600-80967000	Active TSS	Brain Cingulate Gyrus	brain
43	chr16:80965600-80967000	Active TSS	A549	lung
44	chr16:80965600-80967000	Active TSS	HSMM	muscle
45	chr16:80965600-80967000	Active TSS	NHLF	lung
46	chr16:80965800-80966200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr16:80965800-80966200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr16:80965800-80966200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr16:80965800-80966200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr16:80965800-80966200	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood

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