Variant report

Variant	esv1734878
Chromosome Location	chr16:46643379-46643380
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	chr16:46636261..46637898-chr16:46641523..46644415,2	K562	blood:
2	chr16:46642369..46643957-chr16:46648260..46651071,2	K562	blood:

Variant related genes	Relation type
ENSG00000171241	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 58 )

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	rs71158875	chr16:46643380-46643381	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	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
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46608000-46654200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr16:46609400-46646400	Weak transcription	Fetal Heart	heart
3	chr16:46614200-46650000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr16:46615200-46654400	Weak transcription	Fetal Kidney	kidney
5	chr16:46617200-46643800	Weak transcription	Fetal Stomach	stomach
6	chr16:46619600-46644600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:46620000-46654600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:46620800-46649800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:46621200-46647400	Weak transcription	NHDF-Ad	bronchial
10	chr16:46625200-46652400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:46625200-46653600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:46625400-46643400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr16:46625400-46652200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr16:46625400-46652800	Strong transcription	Dnd41	blood
15	chr16:46625600-46654600	Weak transcription	Left Ventricle	heart
16	chr16:46626600-46652200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:46627200-46646400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr16:46627200-46651800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr16:46627600-46654400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:46627800-46646800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:46628200-46654600	Weak transcription	Esophagus	oesophagus
22	chr16:46628600-46654000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr16:46629000-46654600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:46629400-46654600	Weak transcription	Fetal Intestine Small	intestine
25	chr16:46629600-46646600	Weak transcription	Fetal Lung	lung
26	chr16:46630800-46653400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:46631200-46654200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr16:46632000-46654200	Weak transcription	Fetal Brain Female	brain
29	chr16:46632200-46654800	Weak transcription	Pancreas	Pancrea
30	chr16:46633000-46649800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:46633200-46647200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:46633400-46654200	Weak transcription	Primary B cells from cord blood	blood
33	chr16:46633400-46654600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr16:46634000-46648000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:46635600-46654200	Weak transcription	Placenta	Placenta
36	chr16:46637800-46644800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr16:46637800-46647200	Weak transcription	Brain Germinal Matrix	brain
38	chr16:46638000-46643800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr16:46638000-46644600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:46638000-46644600	Weak transcription	Fetal Muscle Leg	muscle
41	chr16:46638000-46644800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr16:46638000-46644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr16:46638000-46644800	Weak transcription	Thymus	Thymus
44	chr16:46638000-46645000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr16:46638000-46649200	Weak transcription	Fetal Thymus	thymus
46	chr16:46638000-46649800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr16:46638000-46649800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr16:46638000-46654600	Weak transcription	Fetal Intestine Large	intestine
49	chr16:46638200-46644600	Weak transcription	NHEK	skin
50	chr16:46638200-46644800	Weak transcription	NHLF	lung

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