Variant report

Variant	nsv1036612
Chromosome Location	chr16:12518604-12565232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12533985..12536929-chr16:12543144..12544698,2	MCF-7	breast:
2	chr16:12548961..12549762-chr16:12562338..12562923,2	MCF-7	breast:
3	chr16:12550576..12552745-chr16:12896062..12898888,2	MCF-7	breast:
4	chr16:12563684..12565962-chr16:12618879..12621631,2	K562	blood:
5	chr16:12523717..12525761-chr16:12526587..12528260,2	MCF-7	breast:
6	chr16:12548803..12549726-chr16:12912972..12913902,6	MCF-7	breast:
7	chr16:12548883..12549752-chr16:12667238..12668263,4	MCF-7	breast:
8	chr16:12559742..12563497-chr16:12565448..12569418,3	K562	blood:
9	chr16:12507545..12509858-chr16:12539210..12540734,2	K562	blood:
10	chr16:12533985..12536929-chr16:12543144..12544698,2	MCF-7	breast:
11	chr16:12548961..12549762-chr16:12562338..12562923,2	MCF-7	breast:
12	chr16:12518273..12521008-chr16:12521973..12524305,2	MCF-7	breast:
13	chr16:12541131..12541857-chr9:11173536..11174397,2	MCF-7	breast:
14	chr16:12434404..12435162-chr16:12548365..12549293,2	MCF-7	breast:
15	chr16:12434163..12434889-chr16:12562200..12562981,2	MCF-7	breast:
16	chr16:12518273..12521008-chr16:12521973..12524305,2	MCF-7	breast:
17	chr16:12547831..12549431-chr16:12907813..12909687,2	MCF-7	breast:
18	chr16:12523717..12525761-chr16:12526587..12528260,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000103381	chromatin interactions

Extended variants
information (count: 2759 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2759 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12599956	chr16:12518604-12518605	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181990499	chr16:12518614-12518615	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186669666	chr16:12518625-12518626	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114932178	chr16:12518629-12518630	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555914849	chr16:12518630-12518631	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569630927	chr16:12518651-12518652	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76700600	chr16:12518659-12518660	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546875296	chr16:12518684-12518685	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566546054	chr16:12518748-12518749	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145693895	chr16:12518752-12518753	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541247777	chr16:12518754-12518755	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557948996	chr16:12518763-12518764	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116678959	chr16:12518766-12518767	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543677476	chr16:12518792-12518793	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375338899	chr16:12518795-12518796	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151032831	chr16:12518796-12518797	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57022780	chr16:12518801-12518802	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192015995	chr16:12518807-12518808	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs140686198	chr16:12518812-12518813	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs377066153	chr16:12518818-12518819	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs74827313	chr16:12518835-12518836	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs116550388	chr16:12518837-12518838	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs571003598	chr16:12518845-12518846	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533501541	chr16:12518864-12518865	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs550439563	chr16:12518870-12518871	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs149791263	chr16:12518877-12518878	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs535445986	chr16:12518879-12518880	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs555371857	chr16:12518884-12518885	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs565793669	chr16:12518895-12518896	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs181238429	chr16:12518913-12518914	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs77212464	chr16:12518918-12518919	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs76177163	chr16:12518945-12518946	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs79016829	chr16:12518982-12518983	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs75369821	chr16:12518990-12518991	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs7199798	chr16:12519045-12519046	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs573573369	chr16:12519062-12519063	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs377483901	chr16:12519109-12519110	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs541838773	chr16:12519128-12519129	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs140319788	chr16:12519149-12519150	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs150283823	chr16:12519164-12519165	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs527809796	chr16:12519165-12519166	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs371446931	chr16:12519211-12519212	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs186751608	chr16:12519213-12519214	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs369924826	chr16:12519237-12519238	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs4781234	chr16:12519240-12519241	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145442850	chr16:12519259-12519260	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs16959563	chr16:12519273-12519274	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs572839632	chr16:12519308-12519309	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs138075832	chr16:12519334-12519335	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs141091157	chr16:12519359-12519360	Enhancers Weak transcription Strong transcription 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	22522925	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:785 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
2	chr16:12497800-12519600	Weak transcription	Brain Anterior Caudate	brain
3	chr16:12497800-12539800	Weak transcription	Left Ventricle	heart
4	chr16:12498000-12541200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr16:12498400-12518800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr16:12498400-12523200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr16:12498400-12523600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr16:12498400-12523800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr16:12498400-12564600	Weak transcription	Esophagus	oesophagus
10	chr16:12498800-12523800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr16:12499400-12527000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr16:12501800-12519600	Weak transcription	Brain Hippocampus Middle	brain
13	chr16:12506200-12529600	Weak transcription	Gastric	stomach
14	chr16:12507600-12519200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:12507600-12527600	Weak transcription	GM12878-XiMat	blood
16	chr16:12507800-12519000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:12508800-12523200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr16:12510200-12523000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr16:12511400-12519600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:12511400-12552000	Weak transcription	Lung	lung
21	chr16:12511600-12527600	Weak transcription	Spleen	Spleen
22	chr16:12512000-12519600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr16:12513200-12519600	Weak transcription	Brain Substantia Nigra	brain
24	chr16:12513200-12536600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr16:12513400-12519000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:12513600-12527600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:12514000-12519800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr16:12514400-12526800	Weak transcription	Brain Angular Gyrus	brain
29	chr16:12514600-12519200	Weak transcription	HSMM	muscle
30	chr16:12514800-12529600	Weak transcription	Fetal Brain Female	brain
31	chr16:12515000-12518800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr16:12515000-12519400	Weak transcription	NHEK	skin
33	chr16:12515400-12520000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr16:12515600-12520000	Weak transcription	K562	blood
35	chr16:12516000-12522600	Weak transcription	Primary T cells from cord blood	blood
36	chr16:12516000-12523200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr16:12516200-12519000	Weak transcription	HSMMtube	muscle
38	chr16:12516200-12519200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:12516600-12519000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:12516800-12518800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr16:12517000-12519600	Weak transcription	Fetal Muscle Leg	muscle
42	chr16:12517000-12550800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr16:12517200-12519200	Weak transcription	Fetal Brain Male	brain
44	chr16:12517400-12518800	Weak transcription	Ovary	ovary
45	chr16:12517400-12520000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr16:12517400-12520000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:12517400-12520000	Weak transcription	Adipose Nuclei	Adipose
48	chr16:12517400-12537000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:12517400-12537000	Weak transcription	Aorta	Aorta
50	chr16:12517600-12518800	Enhancers	HepG2	liver

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