Variant report

Variant	esv7218
Chromosome Location	chr16:82196838-82197003
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82184093..82185777-chr16:82196617..82198190,2	K562	blood:
2	chr16:82196485..82199484-chr16:82202307..82204878,3	MCF-7	breast:
3	chr16:82192940..82199910-chr16:82200069..82205182,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135698	chromatin interactions
ENSG00000261029	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569156083	chr16:82196839-82196840	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs8050804	chr16:82196856-82196857	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551393864	chr16:82196881-82196882	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs369789682	chr16:82196885-82196886	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs577826366	chr16:82196887-82196888	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs533613053	chr16:82196888-82196889	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs12598637	chr16:82196889-82196890	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs8044578	chr16:82196896-82196897	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535634084	chr16:82196917-82196918	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs186654603	chr16:82196918-82196919	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs190770736	chr16:82196936-82196937	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 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
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82172800-82199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:82173400-82203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:82186000-82199200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:82186000-82201600	Strong transcription	Primary T cells from cord blood	blood
5	chr16:82186400-82202800	Weak transcription	Psoas Muscle	Psoas
6	chr16:82186600-82202600	Weak transcription	Stomach Mucosa	stomach
7	chr16:82187400-82200600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:82188400-82202200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr16:82189800-82199200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:82191000-82201000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:82191200-82199200	Strong transcription	Primary B cells from cord blood	blood
12	chr16:82191200-82200800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr16:82191200-82201000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr16:82191400-82201000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr16:82191800-82198800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:82192000-82200400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:82192400-82200800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr16:82192600-82198000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr16:82192600-82198200	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr16:82192600-82201200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:82193000-82199200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:82193000-82200400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr16:82193000-82201600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr16:82193200-82197400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr16:82193200-82197800	Strong transcription	A549	lung
26	chr16:82193200-82198000	Strong transcription	Brain Anterior Caudate	brain
27	chr16:82193200-82198200	Strong transcription	HSMMtube	muscle
28	chr16:82193200-82198400	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr16:82193200-82199800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr16:82193200-82200000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr16:82193200-82200400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr16:82193200-82200800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:82193200-82200800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr16:82193200-82201000	Strong transcription	Fetal Intestine Large	intestine
35	chr16:82193200-82201800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr16:82193400-82197000	Strong transcription	Primary hematopoietic stem cells	blood
37	chr16:82193400-82197200	Strong transcription	Liver	Liver
38	chr16:82193400-82197400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr16:82193400-82197400	Strong transcription	Thymus	Thymus
40	chr16:82193400-82197800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr16:82193400-82197800	Strong transcription	Brain Germinal Matrix	brain
42	chr16:82193400-82198000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr16:82193400-82198200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr16:82193400-82198400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr16:82193400-82198400	Strong transcription	Fetal Thymus	thymus
46	chr16:82193400-82198400	Strong transcription	HUVEC	blood vessel
47	chr16:82193400-82198600	Strong transcription	Fetal Lung	lung
48	chr16:82193400-82198600	Strong transcription	Ovary	ovary
49	chr16:82193400-82200200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr16:82193400-82200400	Strong transcription	Dnd41	blood

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