Variant report

Variant	esv3334464
Chromosome Location	chr16:12093245-12093611
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr16:12093249-12093690	ECC-1	luminal epithelium:	n/a	n/a
2	ESR1	chr16:12093231-12093661	ECC-1	luminal epithelium:	n/a	n/a
3	ESR1	chr16:12093398-12093624	ECC-1	luminal epithelium:	n/a	n/a
4	ESR1	chr16:12093330-12093619	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
SNX29	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566380515	chr16:12093248-12093249	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs369590890	chr16:12093257-12093258	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs377431909	chr16:12093272-12093273	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs538512411	chr16:12093284-12093285	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs370905996	chr16:12093323-12093324	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs192432830	chr16:12093347-12093348	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs558450300	chr16:12093355-12093356	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs183668020	chr16:12093367-12093368	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs562415644	chr16:12093380-12093381	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs373542733	chr16:12093385-12093386	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs4461090	chr16:12093388-12093389	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563772943	chr16:12093408-12093409	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs528792452	chr16:12093426-12093427	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs2865102	chr16:12093439-12093440	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs532840690	chr16:12093447-12093448	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs145567764	chr16:12093463-12093464	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs575050482	chr16:12093476-12093477	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs377483663	chr16:12093478-12093479	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs147711607	chr16:12093548-12093549	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs548957403	chr16:12093562-12093563	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs561965117	chr16:12093594-12093595	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
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	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
Breast cancer	21858162	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12071400-12130800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:12071800-12140200	Weak transcription	Fetal Intestine Small	intestine
3	chr16:12072000-12093600	Weak transcription	Fetal Stomach	stomach
4	chr16:12072200-12093800	Weak transcription	Thymus	Thymus
5	chr16:12072200-12096600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr16:12072200-12102600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr16:12072400-12096400	Weak transcription	Ovary	ovary
8	chr16:12072400-12104400	Weak transcription	NHLF	lung
9	chr16:12072600-12094000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr16:12072600-12094000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr16:12072600-12099000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr16:12072800-12102800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr16:12079600-12109600	Weak transcription	Gastric	stomach
14	chr16:12080200-12093800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:12083400-12102800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr16:12085400-12118200	Weak transcription	Esophagus	oesophagus
17	chr16:12086800-12096600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:12088200-12100800	Weak transcription	Fetal Brain Female	brain
19	chr16:12088600-12093800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr16:12088600-12098200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr16:12088600-12104200	Weak transcription	Right Ventricle	heart
22	chr16:12088600-12109200	Weak transcription	Fetal Kidney	kidney
23	chr16:12088600-12110000	Weak transcription	NH-A	brain
24	chr16:12088800-12094400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr16:12088800-12096400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:12088800-12096400	Weak transcription	Right Atrium	heart
27	chr16:12088800-12098600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:12088800-12106600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:12088800-12108200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr16:12088800-12115400	Weak transcription	Placenta	Placenta
31	chr16:12089000-12093800	Weak transcription	Brain Anterior Caudate	brain
32	chr16:12089000-12093800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:12089000-12093800	Weak transcription	Lung	lung
34	chr16:12089000-12094000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:12089000-12094400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr16:12089000-12094400	Weak transcription	Left Ventricle	heart
37	chr16:12089000-12094600	Weak transcription	Brain Angular Gyrus	brain
38	chr16:12089000-12099800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr16:12089000-12104400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:12089400-12093400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr16:12089400-12103000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr16:12090200-12094200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:12090800-12093800	Weak transcription	Aorta	Aorta
44	chr16:12090800-12093800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr16:12090800-12096400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr16:12091000-12093400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:12091000-12093800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr16:12091000-12103000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr16:12091200-12093800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr16:12091200-12095600	Weak transcription	K562	blood

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