Variant report

Variant	esv3389748
Chromosome Location	chr16:81081104-81081347
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81073681..81077156-chr16:81081079..81084155,3	MCF-7	breast:
2	chr16:81080653..81082343-chr16:81109748..81111286,2	MCF-7	breast:
3	chr16:81068994..81072999-chr16:81079171..81083841,7	MCF-7	breast:
4	chr16:81068052..81071215-chr16:81080209..81082319,3	MCF-7	breast:
5	chr16:81039673..81042304-chr16:81079605..81082488,2	MCF-7	breast:
6	chr16:81072851..81076497-chr16:81077627..81082197,6	K562	blood:
7	chr16:81076434..81078165-chr16:81078716..81082306,3	MCF-7	breast:
8	chr16:81079124..81081324-chr16:81108585..81111174,2	K562	blood:
9	chr16:81069446..81072291-chr16:81077678..81081761,3	K562	blood:
10	chr16:81079864..81081981-chr16:81082304..81084589,2	MCF-7	breast:
11	chr16:81080745..81083107-chr16:81231797..81233650,2	MCF-7	breast:
12	chr16:81078691..81081572-chr16:81082090..81085180,4	K562	blood:
13	chr16:81081030..81085437-chr16:81085906..81090062,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000245059	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000166473	chromatin interactions
ENSG00000103121	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000166451	chromatin interactions
ENSG00000166455	chromatin interactions
ENSG00000261141	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2549892	chr16:81081163-81081164	Weak transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147784962	chr16:81081186-81081187	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs9806860	chr16:81081187-81081188	Weak transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs373111822	chr16:81081203-81081204	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs188197349	chr16:81081224-81081225	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs551832701	chr16:81081305-81081306	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs146967271	chr16:81081328-81081329	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs534337539	chr16:81081332-81081333	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs571996959	chr16:81081341-81081342	Weak transcription	Chromatin interactive region	8 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
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81070800-81081800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:81071200-81082000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:81071200-81082400	Weak transcription	Stomach Mucosa	stomach
4	chr16:81071800-81081800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr16:81074000-81082400	Weak transcription	Fetal Heart	heart
6	chr16:81076200-81081400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:81077000-81094600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr16:81077200-81082200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:81077400-81081600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:81077600-81081400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:81077800-81081400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr16:81077800-81081600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr16:81077800-81081600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr16:81077800-81081800	Weak transcription	Hela-S3	cervix
15	chr16:81078000-81081800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr16:81078000-81083600	Weak transcription	Brain Angular Gyrus	brain
17	chr16:81078400-81081400	Weak transcription	GM12878-XiMat	blood
18	chr16:81078600-81081200	Weak transcription	Right Ventricle	heart
19	chr16:81078800-81081600	Weak transcription	NHLF	lung
20	chr16:81078800-81082000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr16:81078800-81083800	Weak transcription	Colon Smooth Muscle	Colon
22	chr16:81079000-81081600	Weak transcription	NHDF-Ad	bronchial
23	chr16:81079200-81081600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr16:81079200-81081600	Weak transcription	Esophagus	oesophagus
25	chr16:81079200-81081800	Weak transcription	Fetal Brain Male	brain
26	chr16:81079200-81082000	Weak transcription	Brain Substantia Nigra	brain
27	chr16:81079200-81082000	Weak transcription	HepG2	liver
28	chr16:81079200-81082600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:81079400-81081200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr16:81079400-81081200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr16:81079400-81081400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:81079400-81081400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:81079400-81081400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr16:81079400-81081400	Weak transcription	Osteobl	bone
35	chr16:81079400-81081600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr16:81079400-81081600	Weak transcription	HUVEC	blood vessel
37	chr16:81079400-81081800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr16:81079400-81081800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr16:81079400-81081800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:81079400-81081800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr16:81079400-81081800	Weak transcription	Colonic Mucosa	Colon
42	chr16:81079400-81081800	Weak transcription	Fetal Kidney	kidney
43	chr16:81079400-81081800	Weak transcription	Lung	lung
44	chr16:81079400-81081800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr16:81079400-81082000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr16:81079400-81082000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr16:81079400-81082000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr16:81079400-81082000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr16:81079400-81082000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr16:81079400-81082200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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