Variant report

Variant	esv3327162
Chromosome Location	chr16:30885153-30885329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30884692-30885925	K562	blood:	n/a	n/a
2	POLR2A	chr16:30884583-30885217	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:30885260-30888767	HepG2	liver:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30885130..30887903-chr16:30968069..30970202,3	MCF-7	breast:
2	chr16:30883819..30890392-chr16:30902420..30910068,31	K562	blood:
3	chr16:30885095..30888093-chr16:30931834..30934580,5	MCF-7	breast:
4	chr16:30884320..30888249-chr16:30933469..30936807,5	MCF-7	breast:
5	chr16:30885110..30887739-chr16:30951914..30954479,2	MCF-7	breast:
6	chr16:30884464..30890146-chr16:30902796..30909297,24	K562	blood:
7	chr16:30708679..30711292-chr16:30884287..30888063,3	MCF-7	breast:
8	chr16:30866900..30870320-chr16:30883342..30886355,3	MCF-7	breast:
9	chr16:30885123..30887354-chr16:30932881..30934600,2	K562	blood:
10	chr16:30885246..30888347-chr16:30937148..30940794,5	MCF-7	breast:
11	chr16:30885239..30889762-chr16:30932057..30936596,5	K562	blood:
12	chr16:30884496..30886170-chr16:30888380..30890478,2	K562	blood:
13	chr16:30788458..30791289-chr16:30883850..30886177,2	K562	blood:
14	chr16:30797430..30800037-chr16:30885102..30887908,3	K562	blood:
15	chr16:30772557..30775902-chr16:30885131..30888267,4	MCF-7	breast:
16	chr16:30883282..30888471-chr16:30902396..30910299,26	MCF-7	breast:
17	chr16:30796927..30799573-chr16:30884313..30888213,5	MCF-7	breast:

No data

Variant related genes	Relation type
MIR4519	TF binding region
ENSG00000102870	chromatin interactions
ENSG00000196118	chromatin interactions
ENSG00000099364	chromatin interactions
ENSG00000211591	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000262721	chromatin interactions
ENSG00000103549	chromatin interactions
ENSG00000260852	chromatin interactions
ENSG00000262026	chromatin interactions
ENSG00000099385	chromatin interactions
ENSG00000150281	chromatin interactions
ENSG00000099381	chromatin interactions
ENSG00000080603	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12928081	chr16:30885159-30885160	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201448296	chr16:30885169-30885170	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs573657082	chr16:30885211-30885212	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs550530033	chr16:30885236-30885237	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs562689320	chr16:30885248-30885249	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs530008839	chr16:30885250-30885251	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs140558875	chr16:30885253-30885254	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs144343231	chr16:30885254-30885255	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs548464888	chr16:30885259-30885260	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs398119336	chr16:30885264-30885265	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs145504213	chr16:30885265-30885266	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs201372166	chr16:30885267-30885268	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs199998096	chr16:30885272-30885273	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs145435913	chr16:30885275-30885276	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs367873284	chr16:30885276-30885277	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30846800-30885600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr16:30856200-30885800	Weak transcription	NH-A	brain
3	chr16:30856800-30885600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr16:30856800-30885600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:30856800-30885600	Weak transcription	Esophagus	oesophagus
6	chr16:30856800-30885600	Weak transcription	Spleen	Spleen
7	chr16:30856800-30885800	Weak transcription	Brain Angular Gyrus	brain
8	chr16:30857000-30885400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr16:30857000-30885600	Weak transcription	Brain Hippocampus Middle	brain
10	chr16:30858800-30885800	Weak transcription	NHDF-Ad	bronchial
11	chr16:30863600-30885600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr16:30865400-30885800	Weak transcription	Fetal Kidney	kidney
13	chr16:30865600-30885400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr16:30865600-30885600	Weak transcription	Adipose Nuclei	Adipose
15	chr16:30866000-30885600	Weak transcription	Fetal Lung	lung
16	chr16:30866400-30885600	Weak transcription	Brain Anterior Caudate	brain
17	chr16:30866600-30885600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:30868400-30885600	Weak transcription	Fetal Heart	heart
19	chr16:30870600-30885600	Weak transcription	Hela-S3	cervix
20	chr16:30870600-30885600	Weak transcription	Osteobl	bone
21	chr16:30875000-30885400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:30875200-30885400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr16:30875600-30885600	Weak transcription	Fetal Intestine Large	intestine
24	chr16:30877400-30885600	Weak transcription	Right Ventricle	heart
25	chr16:30878600-30885600	Weak transcription	A549	lung
26	chr16:30880200-30885600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr16:30880400-30885400	Weak transcription	HUVEC	blood vessel
28	chr16:30880600-30885600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr16:30881200-30885600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr16:30881800-30885600	Weak transcription	HSMM	muscle
31	chr16:30882000-30885400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:30882000-30885600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr16:30882000-30885800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:30882000-30885800	Weak transcription	Gastric	stomach
35	chr16:30882400-30885600	Weak transcription	Thymus	Thymus
36	chr16:30882600-30885400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr16:30882600-30885600	Weak transcription	Psoas Muscle	Psoas
38	chr16:30882800-30885400	Weak transcription	Colonic Mucosa	Colon
39	chr16:30882800-30885600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:30883000-30885600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr16:30883200-30885600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:30883400-30885600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr16:30883400-30885800	Weak transcription	Brain Substantia Nigra	brain
44	chr16:30883600-30885800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr16:30884000-30885600	Weak transcription	Liver	Liver
46	chr16:30884000-30885600	Weak transcription	Lung	lung
47	chr16:30884000-30885600	Weak transcription	Pancreas	Pancrea
48	chr16:30884200-30885400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr16:30884200-30885400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr16:30884200-30885400	Weak transcription	Fetal Stomach	stomach

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