Variant report

Variant	esv3415189
Chromosome Location	chr16:69975817-69976291
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	chr16:69969820..69971690-chr16:69974264..69975931,2	K562	blood:
2	chr16:69970218..69972832-chr16:69974384..69976612,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198373	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535271303	chr16:69975829-69975830	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs140236610	chr16:69975847-69975848	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77918990	chr16:69975865-69975866	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568185348	chr16:69975876-69975877	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535618226	chr16:69975882-69975883	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554144255	chr16:69975891-69975892	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs7206524	chr16:69975896-69975897	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs144010110	chr16:69975916-69975917	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs74463771	chr16:69975918-69975919	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
10	rs575954926	chr16:69975941-69975942	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146448854	chr16:69975975-69975976	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374624270	chr16:69975997-69975998	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555416257	chr16:69976001-69976002	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565012404	chr16:69976041-69976042	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs35580809	chr16:69976073-69976074	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574185486	chr16:69976080-69976081	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs7184994	chr16:69976089-69976090	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs559665283	chr16:69976117-69976118	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533449021	chr16:69976198-69976199	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs545256663	chr16:69976210-69976211	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375141130	chr16:69976215-69976216	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs563549418	chr16:69976230-69976231	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576821508	chr16:69976234-69976235	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372156257	chr16:69976236-69976237	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530907827	chr16:69976239-69976240	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69947600-69977200	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr16:69948200-69977400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr16:69948400-69977400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:69952600-69976000	Weak transcription	Hela-S3	cervix
5	chr16:69954400-69976000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr16:69957400-69977400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr16:69957800-69977200	Strong transcription	Fetal Intestine Small	intestine
8	chr16:69959000-69976400	Strong transcription	Thymus	Thymus
9	chr16:69959000-69977200	Strong transcription	Fetal Intestine Large	intestine
10	chr16:69959000-69977600	Strong transcription	Primary T cells from cord blood	blood
11	chr16:69959400-69976200	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:69961400-69976600	Weak transcription	Right Atrium	heart
13	chr16:69961400-69977000	Weak transcription	HSMM	muscle
14	chr16:69961600-69976800	Strong transcription	Spleen	Spleen
15	chr16:69962400-69976800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr16:69962400-69976800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr16:69962600-69976800	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr16:69962800-69976200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr16:69962800-69976200	Strong transcription	Gastric	stomach
20	chr16:69963200-69976600	Strong transcription	Fetal Brain Female	brain
21	chr16:69963200-69977000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:69963400-69976000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr16:69963400-69977200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr16:69963600-69976400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:69963800-69976200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr16:69964200-69976000	Strong transcription	Osteobl	bone
27	chr16:69964200-69976400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:69964200-69976800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr16:69964400-69977400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:69964600-69976400	Strong transcription	Esophagus	oesophagus
31	chr16:69965000-69976200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:69965000-69976400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr16:69965200-69976200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:69966600-69976000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr16:69967000-69976200	Strong transcription	Brain Anterior Caudate	brain
36	chr16:69967200-69977000	Strong transcription	Brain Substantia Nigra	brain
37	chr16:69968000-69976000	Weak transcription	Fetal Kidney	kidney
38	chr16:69970800-69977400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:69970800-69978800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr16:69971200-69976400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr16:69971200-69977000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr16:69971600-69976800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr16:69971800-69976000	Strong transcription	Brain Hippocampus Middle	brain
44	chr16:69971800-69977000	Weak transcription	HMEC	breast
45	chr16:69973200-69976200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:69973600-69977200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr16:69973600-69977200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr16:69973800-69976600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr16:69973800-69977000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr16:69973800-69977000	Weak transcription	Primary hematopoietic stem cells	blood

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