Variant report

Variant	esv3361517
Chromosome Location	chr16:12174458-12174868
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	ATF2	chr16:12173970-12174469	GM12878	blood:	n/a	n/a
2	PML	chr16:12173895-12174476	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12069629..12072468-chr16:12173207..12175470,2	MCF-7	breast:
2	chr16:12174212..12176270-chr16:12182353..12184871,2	K562	blood:

Variant related genes	Relation type
RPS23P6	TF binding region
ENSG00000260488	chromatin interactions
ENSG00000175604	chromatin interactions
ENSG00000048471	chromatin interactions
ENSG00000234719	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536424759	chr16:12174474-12174475	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs553220507	chr16:12174479-12174480	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs149568930	chr16:12174483-12174484	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs538560675	chr16:12174503-12174504	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs350257	chr16:12174517-12174518	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191609280	chr16:12174526-12174527	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs543875274	chr16:12174532-12174533	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs201267677	chr16:12174550-12174551	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs12708745	chr16:12174551-12174552	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78737471	chr16:12174552-12174553	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs34209588	chr16:12174565-12174566	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs536845814	chr16:12174605-12174606	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs573810157	chr16:12174612-12174613	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs550403353	chr16:12174629-12174630	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs559521066	chr16:12174659-12174660	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs12708746	chr16:12174663-12174664	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs60781010	chr16:12174730-12174731	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs183847505	chr16:12174749-12174750	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs146860756	chr16:12174750-12174751	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs550572939	chr16:12174766-12174767	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs1641848	chr16:12174802-12174803	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs567336718	chr16:12174816-12174817	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs148559990	chr16:12174837-12174838	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs142901354	chr16:12174838-12174839	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs202228012	chr16:12174840-12174841	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs150961128	chr16:12174844-12174845	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 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
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
Breast cancer	21858162	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12117400-12183400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr16:12142800-12189200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:12146000-12183400	Weak transcription	Fetal Intestine Large	intestine
4	chr16:12148000-12183400	Weak transcription	Fetal Lung	lung
5	chr16:12153400-12177200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:12156000-12185800	Weak transcription	Brain Germinal Matrix	brain
7	chr16:12156000-12185800	Weak transcription	Fetal Brain Female	brain
8	chr16:12157000-12175800	Weak transcription	Fetal Kidney	kidney
9	chr16:12157000-12181600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:12157000-12181800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr16:12157200-12183200	Weak transcription	NHLF	lung
12	chr16:12157200-12185800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:12157800-12181400	Weak transcription	Right Ventricle	heart
14	chr16:12157800-12185800	Weak transcription	HSMMtube	muscle
15	chr16:12162200-12181400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr16:12163600-12181600	Weak transcription	Brain Substantia Nigra	brain
17	chr16:12163600-12183600	Weak transcription	Colon Smooth Muscle	Colon
18	chr16:12163800-12181600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr16:12167600-12185800	Weak transcription	HSMM	muscle
20	chr16:12169200-12176400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:12170000-12176800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr16:12170000-12178600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:12170000-12183400	Weak transcription	HepG2	liver
24	chr16:12170200-12183400	Weak transcription	Colonic Mucosa	Colon
25	chr16:12170400-12176800	Genic enhancers	Primary B cells from peripheral blood	blood
26	chr16:12170400-12179600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr16:12170600-12182000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr16:12170800-12176000	Strong transcription	Fetal Muscle Leg	muscle
29	chr16:12170800-12179200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr16:12171000-12179600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:12171400-12178000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr16:12171400-12180400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr16:12171600-12180200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:12171800-12175600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:12171800-12178400	Strong transcription	Adipose Nuclei	Adipose
36	chr16:12172200-12178000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:12172400-12174600	Strong transcription	Brain Cingulate Gyrus	brain
38	chr16:12172400-12175600	Strong transcription	Pancreas	Pancrea
39	chr16:12172400-12176400	Strong transcription	NHDF-Ad	bronchial
40	chr16:12172400-12178600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr16:12172600-12174600	Strong transcription	Placenta	Placenta
42	chr16:12172600-12175200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr16:12172600-12175600	Strong transcription	Fetal Intestine Small	intestine
44	chr16:12172600-12176200	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr16:12172600-12177800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr16:12172600-12178000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr16:12172600-12178000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr16:12172600-12178000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr16:12172600-12178000	Strong transcription	NHEK	skin
50	chr16:12172600-12178600	Strong transcription	Aorta	Aorta

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