Variant report

Variant	nsv518748
Chromosome Location	chr16:79716333-79729031
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	chr16:79712002..79713952-chr16:79716097..79718110,2	K562	blood:

Extended variants
information (count: 682 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:682 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7186420	chr16:79716333-79716334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570482341	chr16:79716334-79716335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185221781	chr16:79716352-79716353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143817271	chr16:79716363-79716364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188604845	chr16:79716365-79716366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535604918	chr16:79716434-79716435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376801902	chr16:79716497-79716498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554790544	chr16:79716516-79716517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148094517	chr16:79716525-79716526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552181758	chr16:79716537-79716538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77469869	chr16:79716573-79716574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181375427	chr16:79716581-79716582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56892402	chr16:79716625-79716626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs57589379	chr16:79716671-79716672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541014835	chr16:79716677-79716678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559133761	chr16:79716682-79716683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534808066	chr16:79716691-79716692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574450363	chr16:79716698-79716699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541558119	chr16:79716699-79716700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs118114841	chr16:79716702-79716703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531029140	chr16:79716711-79716712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150645607	chr16:79716723-79716724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568250390	chr16:79716725-79716726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115421026	chr16:79716740-79716741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528822915	chr16:79716773-79716774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546969066	chr16:79716798-79716799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568398298	chr16:79716799-79716800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs398078779	chr16:79716807-79716808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140789336	chr16:79716830-79716831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551117413	chr16:79716859-79716860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569821113	chr16:79716860-79716861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537254793	chr16:79716861-79716862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558830726	chr16:79716863-79716864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367958845	chr16:79716869-79716870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11647155	chr16:79716870-79716871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200216770	chr16:79716875-79716876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34350779	chr16:79716876-79716877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35357169	chr16:79716879-79716880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71140898	chr16:79716880-79716881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6564689	chr16:79716881-79716882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545345793	chr16:79716887-79716888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59617251	chr16:79716922-79716923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs552916138	chr16:79716944-79716945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183775313	chr16:79716961-79716962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373190946	chr16:79716983-79716984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541494156	chr16:79716996-79716997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188449364	chr16:79717032-79717033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376670689	chr16:79717039-79717040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577100193	chr16:79717043-79717044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180901612	chr16:79717064-79717065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79708400-79720400	Weak transcription	Ovary	ovary
2	chr16:79714800-79721400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:79718600-79720000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:79718800-79719200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:79719200-79719600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:79719600-79720200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr16:79719600-79720800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:79720000-79720200	ZNF genes & repeats	Pancreas	Pancrea
9	chr16:79720000-79720200	Enhancers	K562	blood
10	chr16:79720000-79720400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:79720200-79720400	Active TSS	Aorta	Aorta
12	chr16:79720200-79721200	Weak transcription	K562	blood
13	chr16:79720200-79721400	Weak transcription	Pancreas	Pancrea
14	chr16:79720400-79721600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:79720400-79736800	Weak transcription	Aorta	Aorta
16	chr16:79720800-79724200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:79721000-79721400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr16:79721200-79721600	Enhancers	Duodenum Mucosa	Duodenum
19	chr16:79721200-79721600	Enhancers	K562	blood
20	chr16:79721200-79722400	Enhancers	Osteobl	bone
21	chr16:79721200-79724800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:79721400-79721600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:79721400-79721600	Enhancers	Pancreas	Pancrea
24	chr16:79721400-79721800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr16:79721400-79721800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr16:79721400-79721800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:79721400-79722800	Enhancers	NH-A	brain
28	chr16:79721400-79723200	Enhancers	NHDF-Ad	bronchial
29	chr16:79721600-79722600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:79721600-79724200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:79721600-79724600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr16:79721600-79726600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:79721800-79722800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr16:79721800-79724200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:79721800-79725200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:79722000-79722200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr16:79722000-79722800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:79722400-79728600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr16:79723200-79723600	Weak transcription	NHDF-Ad	bronchial
40	chr16:79723600-79726000	Enhancers	NHDF-Ad	bronchial
41	chr16:79723800-79725400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:79723800-79725400	Enhancers	NHLF	lung
43	chr16:79724200-79724800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:79724200-79725000	Enhancers	Gastric	stomach
45	chr16:79724200-79725200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:79724200-79725400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:79724200-79725400	Enhancers	Fetal Muscle Leg	muscle
48	chr16:79724600-79725000	Enhancers	Adipose Nuclei	Adipose
49	chr16:79724600-79725200	Enhancers	Fetal Lung	lung
50	chr16:79724600-79725400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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