Variant report

Variant	esv1363357
Chromosome Location	chr16:75466290-75466291
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75465991..75469604-chr16:75494524..75499996,12	MCF-7	breast:
2	chr16:75284907..75286555-chr16:75465225..75468013,2	MCF-7	breast:
3	chr16:75465449..75469390-chr16:75587663..75590801,6	K562	blood:
4	chr16:75465910..75469192-chr16:75654368..75658890,6	K562	blood:
5	chr16:75466075..75467662-chr16:75587828..75590094,2	MCF-7	breast:
6	chr16:75466031..75468931-chr16:75549812..75551653,2	K562	blood:
7	chr16:75440851..75444308-chr16:75465493..75468084,3	MCF-7	breast:
8	chr16:75279924..75282284-chr16:75466090..75468408,2	K562	blood:
9	chr16:75466173..75469509-chr16:75680461..75683235,3	K562	blood:
10	chr16:75465566..75468619-chr16:75548282..75552307,4	MCF-7	breast:
11	chr16:75464062..75469543-chr16:75495268..75500189,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000050820	chromatin interactions
ENSG00000065457	chromatin interactions
ENSG00000166822	chromatin interactions
ENSG00000166848	chromatin interactions
ENSG00000205084	chromatin interactions
ENSG00000252122	chromatin interactions
ENSG00000261717	chromatin interactions
ENSG00000262583	chromatin interactions
ENSG00000065427	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 68 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55961935	chr16:75466291-75466292	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75432400-75466600	Weak transcription	Aorta	Aorta
2	chr16:75446600-75466400	Weak transcription	Brain Angular Gyrus	brain
3	chr16:75446600-75466400	Weak transcription	Right Ventricle	heart
4	chr16:75446800-75466400	Weak transcription	Fetal Brain Female	brain
5	chr16:75446800-75466400	Weak transcription	HSMM	muscle
6	chr16:75447000-75466400	Weak transcription	Liver	Liver
7	chr16:75453600-75466400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr16:75453800-75466400	Weak transcription	Psoas Muscle	Psoas
9	chr16:75453800-75466600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:75455600-75466400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:75455600-75466400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:75455600-75466400	Weak transcription	Primary B cells from cord blood	blood
13	chr16:75455600-75466400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr16:75455600-75466400	Weak transcription	NH-A	brain
15	chr16:75455800-75466400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr16:75455800-75466400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:75455800-75466400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr16:75455800-75466400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:75455800-75466400	Weak transcription	Fetal Lung	lung
20	chr16:75455800-75466400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr16:75455800-75466400	Weak transcription	A549	lung
22	chr16:75460600-75466400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr16:75460600-75466400	Weak transcription	NHDF-Ad	bronchial
24	chr16:75460600-75466400	Weak transcription	Osteobl	bone
25	chr16:75460800-75466400	Weak transcription	NHLF	lung
26	chr16:75462000-75466400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:75463800-75466400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr16:75464200-75466400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr16:75464400-75466600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:75464600-75466400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr16:75465000-75466400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr16:75465000-75466400	Enhancers	Fetal Brain Male	brain
33	chr16:75465000-75466400	Enhancers	Fetal Muscle Trunk	muscle
34	chr16:75465200-75466400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:75465200-75466400	Weak transcription	Brain Hippocampus Middle	brain
36	chr16:75465200-75466400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr16:75465200-75466600	Weak transcription	Esophagus	oesophagus
38	chr16:75465400-75466400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr16:75465400-75466400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr16:75465400-75466400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr16:75465400-75466400	Enhancers	Brain Anterior Caudate	brain
42	chr16:75465400-75466400	Enhancers	Fetal Thymus	thymus
43	chr16:75465400-75466400	Enhancers	Right Atrium	heart
44	chr16:75465400-75466600	Enhancers	Primary B cells from peripheral blood	blood
45	chr16:75465400-75466600	Enhancers	Pancreas	Pancrea
46	chr16:75465400-75468600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:75465600-75466400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr16:75465600-75466400	Enhancers	Fetal Stomach	stomach
49	chr16:75465600-75466400	Enhancers	Thymus	Thymus
50	chr16:75465600-75466400	Weak transcription	Spleen	Spleen

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