Variant report

Variant	esv3393800
Chromosome Location	chr16:58812500-58840628
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	chr16:58826863..58829258-chr16:58899409..58901725,2	K562	blood:

Extended variants
information (count: 435 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558928266	chr16:58819217-58819218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs529703768	chr16:58819232-58819233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs548259075	chr16:58819251-58819252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs182358399	chr16:58819252-58819253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs11643969	chr16:58819258-58819259	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs62064932	chr16:58819272-58819273	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116301398	chr16:58819275-58819276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs187793349	chr16:58819277-58819278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs554550990	chr16:58819298-58819299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs566068860	chr16:58819314-58819315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs140834691	chr16:58819340-58819341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs555023113	chr16:58819343-58819344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs7194961	chr16:58819353-58819354	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs543571776	chr16:58819362-58819363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs558342406	chr16:58819381-58819382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs576681523	chr16:58819395-58819396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs540924330	chr16:58819433-58819434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs559265249	chr16:58819466-58819467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs145724002	chr16:58819470-58819471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs148925077	chr16:58819525-58819526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs563361540	chr16:58819538-58819539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs77478306	chr16:58819539-58819540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs193059817	chr16:58819544-58819545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs571865729	chr16:58819551-58819552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs185825608	chr16:58819556-58819557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs201222461	chr16:58819559-58819560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs200460389	chr16:58819560-58819561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs146634640	chr16:58819563-58819564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs543179920	chr16:58819600-58819601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs62064933	chr16:58819603-58819604	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139670993	chr16:58819630-58819631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs371034278	chr16:58819633-58819634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs111380102	chr16:58819648-58819649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs548310981	chr16:58819649-58819650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113457454	chr16:58819653-58819654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs537153954	chr16:58819654-58819655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs141377815	chr16:58819690-58819691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs576620292	chr16:58819703-58819704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7193640	chr16:58819720-58819721	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs111738566	chr16:58819727-58819728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs551788513	chr16:58819733-58819734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs4427787	chr16:58819754-58819755	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs541767918	chr16:58819769-58819770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs563141133	chr16:58819778-58819779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs575240872	chr16:58819780-58819781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs57579172	chr16:58819788-58819789	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs564202501	chr16:58819825-58819826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs60586863	chr16:58819848-58819849	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs76659395	chr16:58819856-58819857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs368087919	chr16:58819861-58819862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	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
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	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
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20972252	CNVD
Invasive breast cancer	20972252	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58819200-58820400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr16:58822600-58823600	Enhancers	K562	blood
3	chr16:58823600-58825400	Weak transcription	K562	blood
4	chr16:58824800-58825800	Enhancers	Right Ventricle	heart
5	chr16:58825400-58825600	Enhancers	K562	blood
6	chr16:58825600-58826200	Flanking Active TSS	K562	blood
7	chr16:58825600-58826400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr16:58825600-58827400	Enhancers	Fetal Heart	heart
9	chr16:58825800-58826200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr16:58825800-58826200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr16:58825800-58826200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr16:58825800-58826400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr16:58826000-58826600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr16:58826200-58826600	Active TSS	K562	blood
15	chr16:58826200-58826800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:58826200-58827200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr16:58826600-58827200	Flanking Active TSS	K562	blood
18	chr16:58826800-58827800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:58827000-58827400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr16:58827000-58827400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr16:58827200-58827400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr16:58827200-58828400	Enhancers	K562	blood
23	chr16:58827800-58828200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:58828400-58830200	Weak transcription	K562	blood
25	chr16:58830200-58830400	Enhancers	Lung	lung
26	chr16:58830200-58830600	Enhancers	K562	blood
27	chr16:58831200-58831600	Enhancers	GM12878-XiMat	blood
28	chr16:58840400-58841200	Weak transcription	Left Ventricle	heart

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