Variant report

Variant	esv2127465
Chromosome Location	chr16:81119285-81119994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81118252..81120833-chr16:81125164..81126859,2	K562	blood:
2	chr16:81109459..81113813-chr16:81119137..81125158,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245059	chromatin interactions
ENSG00000166455	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192765924	chr16:81119292-81119293	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs539711464	chr16:81119337-81119338	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs559015220	chr16:81119347-81119348	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs8177937	chr16:81119380-81119381	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184937194	chr16:81119389-81119390	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs553550829	chr16:81119402-81119403	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs8177936	chr16:81119413-81119414	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187809912	chr16:81119425-81119426	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs191433741	chr16:81119426-81119427	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs8177935	chr16:81119449-81119450	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs375927335	chr16:81119452-81119453	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs531129888	chr16:81119459-81119460	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs373998474	chr16:81119480-81119481	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs372409155	chr16:81119482-81119483	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs567835050	chr16:81119499-81119500	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs536931846	chr16:81119513-81119514	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs550245141	chr16:81119537-81119538	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs570223825	chr16:81119551-81119552	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs538894126	chr16:81119555-81119556	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs546114869	chr16:81119645-81119646	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs564425708	chr16:81119646-81119647	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs558584269	chr16:81119675-81119676	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs553085047	chr16:81119714-81119715	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs572220509	chr16:81119763-81119764	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs369854142	chr16:81119853-81119854	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs546188714	chr16:81119865-81119866	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs8177934	chr16:81119866-81119867	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs8177933	chr16:81119868-81119869	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs140314808	chr16:81119870-81119871	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs8177932	chr16:81119875-81119876	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs8177931	chr16:81119878-81119879	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543691815	chr16:81119908-81119909	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs8177930	chr16:81119929-81119930	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561980382	chr16:81119966-81119967	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs8177929	chr16:81119984-81119985	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs150122017	chr16:81119993-81119994	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Chronic lymphocytic leukemia	22228453	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81111400-81122400	Weak transcription	Lung	lung
2	chr16:81111400-81122600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr16:81111400-81122800	Weak transcription	Ovary	ovary
4	chr16:81111400-81128200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:81111400-81128400	Weak transcription	Aorta	Aorta
6	chr16:81111400-81128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:81111400-81128800	Weak transcription	Psoas Muscle	Psoas
8	chr16:81111400-81128800	Weak transcription	NHDF-Ad	bronchial
9	chr16:81111400-81129000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:81111400-81129000	Weak transcription	Gastric	stomach
11	chr16:81111400-81129200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr16:81111600-81120200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:81111600-81120800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:81111600-81122000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr16:81111600-81122200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:81111600-81122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:81111600-81122400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:81111600-81122400	Weak transcription	Fetal Intestine Large	intestine
19	chr16:81111600-81122400	Weak transcription	NHEK	skin
20	chr16:81111600-81122800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr16:81111600-81122800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr16:81111600-81123000	Weak transcription	Primary T cells from cord blood	blood
23	chr16:81111600-81123000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr16:81111600-81123000	Weak transcription	HMEC	breast
25	chr16:81111600-81123200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr16:81111600-81123200	Weak transcription	Placenta	Placenta
27	chr16:81111600-81125600	Weak transcription	GM12878-XiMat	blood
28	chr16:81111600-81127800	Weak transcription	Brain Substantia Nigra	brain
29	chr16:81111600-81128000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr16:81111600-81128200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr16:81111600-81128200	Weak transcription	Brain Hippocampus Middle	brain
32	chr16:81111600-81128200	Weak transcription	NH-A	brain
33	chr16:81111600-81128400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr16:81111600-81128400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr16:81111600-81128400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:81111600-81128400	Weak transcription	Brain Anterior Caudate	brain
37	chr16:81111600-81128400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr16:81111600-81128400	Weak transcription	HSMM	muscle
39	chr16:81111600-81128600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr16:81111600-81128600	Weak transcription	Fetal Kidney	kidney
41	chr16:81111600-81128600	Weak transcription	Pancreas	Pancrea
42	chr16:81111600-81128800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr16:81111600-81128800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:81111600-81128800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr16:81111600-81128800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr16:81111600-81128800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr16:81111600-81128800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:81111600-81128800	Weak transcription	Colon Smooth Muscle	Colon
49	chr16:81111600-81128800	Weak transcription	Fetal Brain Female	brain
50	chr16:81111600-81128800	Weak transcription	Rectal Mucosa Donor 29	rectum

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