Variant report

Variant	esv15370
Chromosome Location	chr16:12641319-12641874
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	chr16:12633130..12635327-chr16:12640812..12643626,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564143769	chr16:12641324-12641325	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs56338753	chr16:12641328-12641329	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147984202	chr16:12641330-12641331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs563292137	chr16:12641333-12641334	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs55793026	chr16:12641341-12641342	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549217161	chr16:12641354-12641355	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs536844409	chr16:12641355-12641356	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs186421229	chr16:12641364-12641365	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs571447671	chr16:12641374-12641375	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs551174389	chr16:12641378-12641379	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs571145729	chr16:12641380-12641381	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs539527410	chr16:12641385-12641386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs556431021	chr16:12641391-12641392	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs570025687	chr16:12641393-12641394	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs535491659	chr16:12641401-12641402	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs573021061	chr16:12641409-12641410	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555980502	chr16:12641411-12641412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs564970853	chr16:12641412-12641413	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs141651031	chr16:12641414-12641415	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs558360131	chr16:12641417-12641418	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs578236321	chr16:12641419-12641420	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs543494179	chr16:12641423-12641424	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs191327659	chr16:12641427-12641428	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs67604629	chr16:12641431-12641432	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs150535462	chr16:12641433-12641434	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs528832107	chr16:12641435-12641436	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs138613534	chr16:12641438-12641439	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs559185437	chr16:12641444-12641445	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs111305326	chr16:12641447-12641448	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs186974141	chr16:12641450-12641451	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs551168279	chr16:12641465-12641466	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs530659875	chr16:12641475-12641476	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs191441366	chr16:12641479-12641480	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs72773347	chr16:12641495-12641496	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535814594	chr16:12641497-12641498	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs555814255	chr16:12641504-12641505	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs566105874	chr16:12641506-12641507	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs544468258	chr16:12641508-12641509	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs183257384	chr16:12641513-12641514	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs8062234	chr16:12641515-12641516	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs578186969	chr16:12641525-12641526	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs543655444	chr16:12641542-12641543	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs371526513	chr16:12641543-12641544	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs556987771	chr16:12641546-12641547	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs187964131	chr16:12641547-12641548	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs35957798	chr16:12641549-12641550	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529905905	chr16:12641557-12641558	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs528124469	chr16:12641569-12641570	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs7204000	chr16:12641572-12641573	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs142942797	chr16:12641577-12641578	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	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
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12625800-12643400	Weak transcription	Gastric	stomach
3	chr16:12627000-12642200	Weak transcription	Right Ventricle	heart
4	chr16:12632800-12646600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:12632800-12663800	Weak transcription	Aorta	Aorta
6	chr16:12633000-12646600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr16:12633400-12654400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr16:12635000-12644200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr16:12636000-12642600	Flanking Active TSS	GM12878-XiMat	blood
10	chr16:12637200-12642200	Enhancers	Spleen	Spleen
11	chr16:12637600-12641800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr16:12637600-12642400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr16:12637600-12642800	Enhancers	Primary B cells from cord blood	blood
14	chr16:12638600-12641600	Weak transcription	Fetal Muscle Leg	muscle
15	chr16:12638600-12643000	Enhancers	Primary B cells from peripheral blood	blood
16	chr16:12638600-12644000	Weak transcription	Primary T cells from cord blood	blood
17	chr16:12638800-12645400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:12639200-12643000	Enhancers	Esophagus	oesophagus
19	chr16:12639400-12645000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:12639400-12646800	Weak transcription	Brain Angular Gyrus	brain
21	chr16:12639400-12659000	Weak transcription	Lung	lung
22	chr16:12639600-12645800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr16:12639800-12641600	Weak transcription	Brain Hippocampus Middle	brain
24	chr16:12640000-12647200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:12640200-12641400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr16:12640200-12644200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr16:12640600-12641400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr16:12640600-12641400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr16:12640600-12642000	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr16:12640600-12642400	Enhancers	Fetal Thymus	thymus
31	chr16:12640600-12646000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:12640800-12641600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr16:12640800-12641600	Enhancers	Duodenum Mucosa	Duodenum
34	chr16:12640800-12641800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr16:12640800-12641800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr16:12640800-12642800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:12641000-12641400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:12641000-12641400	Enhancers	Thymus	Thymus
39	chr16:12641000-12641400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr16:12641000-12641800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:12641000-12641800	Enhancers	HSMM	muscle
42	chr16:12641000-12642200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr16:12641000-12642200	Enhancers	Fetal Muscle Trunk	muscle
44	chr16:12641000-12642200	Weak transcription	NHEK	skin
45	chr16:12641000-12643000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:12641200-12641600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:12641200-12641600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr16:12641200-12641600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:12641200-12642000	Enhancers	HSMMtube	muscle
50	chr16:12641200-12646000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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