Variant report

Variant	esv3312969
Chromosome Location	chr16:70552912-70553433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70551842..70553695-chr16:70555040..70558338,3	K562	blood:
2	chr16:70551573..70553695-chr16:70556838..70559540,3	K562	blood:
3	chr16:70542244..70550034-chr16:70550058..70558887,15	MCF-7	breast:
4	chr16:70549052..70551640-chr16:70553322..70555254,2	K562	blood:
5	chr16:70553189..70554990-chr16:70583388..70585891,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189091	chromatin interactions
ENSG00000103051	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537427880	chr16:70552917-70552918	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs28419202	chr16:70552936-70552937	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs79800703	chr16:70553025-70553026	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs574772449	chr16:70553065-70553066	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs567558042	chr16:70553086-70553087	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs186953272	chr16:70553090-70553091	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553960896	chr16:70553105-70553106	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572192233	chr16:70553186-70553187	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113440402	chr16:70553266-70553267	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs549491962	chr16:70553276-70553277	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs564193059	chr16:70553277-70553278	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs531236578	chr16:70553303-70553304	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs373181113	chr16:70553329-70553330	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs7204583	chr16:70553382-70553383	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs538374060	chr16:70553392-70553393	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs529505382	chr16:70553412-70553413	Weak transcription Strong transcription Enhancers Genic enhancers	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Autism	20841430	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
2	chr16:70512800-70556400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:70528000-70553800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr16:70528800-70556400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:70536600-70554000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:70536800-70554000	Strong transcription	Fetal Stomach	stomach
7	chr16:70537200-70554000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:70537800-70553800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:70537800-70553800	Strong transcription	Liver	Liver
10	chr16:70539600-70553800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr16:70539800-70553000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:70539800-70553800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:70539800-70553800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr16:70539800-70553800	Strong transcription	Placenta	Placenta
15	chr16:70540000-70553000	Strong transcription	Thymus	Thymus
16	chr16:70540200-70553800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr16:70540200-70554000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr16:70540800-70553000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:70541000-70553000	Strong transcription	Brain Anterior Caudate	brain
20	chr16:70541000-70554000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:70541000-70554000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr16:70541000-70554000	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr16:70541000-70554000	Strong transcription	Dnd41	blood
24	chr16:70541200-70556200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:70542400-70553000	Strong transcription	Ovary	ovary
26	chr16:70542400-70553600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr16:70543000-70556200	Weak transcription	Fetal Heart	heart
28	chr16:70543200-70553600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr16:70543400-70553000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr16:70545000-70556200	Weak transcription	Small Intestine	intestine
31	chr16:70546200-70556400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr16:70546400-70556400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr16:70546600-70553800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:70546600-70553800	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr16:70546600-70556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:70546800-70556400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr16:70547000-70554600	Weak transcription	HMEC	breast
38	chr16:70547800-70553400	Strong transcription	Fetal Intestine Small	intestine
39	chr16:70548400-70554400	Weak transcription	HUVEC	blood vessel
40	chr16:70548600-70553400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr16:70548600-70554600	Weak transcription	NHEK	skin
42	chr16:70548800-70556000	Weak transcription	Psoas Muscle	Psoas
43	chr16:70548800-70556200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr16:70550000-70556200	Weak transcription	Fetal Brain Male	brain
45	chr16:70550200-70554400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr16:70550400-70556800	Weak transcription	Esophagus	oesophagus
47	chr16:70551200-70555000	Weak transcription	Right Ventricle	heart
48	chr16:70551200-70556800	Weak transcription	Aorta	Aorta
49	chr16:70551400-70553800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr16:70551400-70554800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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