Variant report

Variant	esv3360836
Chromosome Location	chr16:80013751-80018049
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	chr16:80012173..80015037-chr16:80061330..80063455,2	K562	blood:
2	chr16:80004622..80006515-chr16:80014289..80017872,4	K562	blood:

Extended variants
information (count: 296 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531864873	chr16:80013759-80013760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147050109	chr16:80013785-80013786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558322438	chr16:80013805-80013806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550160345	chr16:80013838-80013839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76097949	chr16:80013842-80013843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115313234	chr16:80013848-80013849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs8044773	chr16:80013865-80013866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs75832685	chr16:80013874-80013875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544443586	chr16:80013901-80013902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144505016	chr16:80013903-80013904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555266433	chr16:80013920-80013921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187753895	chr16:80013939-80013940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561165888	chr16:80013941-80013942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193112630	chr16:80013955-80013956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555754178	chr16:80013965-80013966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533682434	chr16:80013972-80013973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577248234	chr16:80013975-80013976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs16951906	chr16:80014006-80014007	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553495075	chr16:80014049-80014050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572046341	chr16:80014054-80014055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543209447	chr16:80014080-80014081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17782006	chr16:80014093-80014094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs576690994	chr16:80014110-80014111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183885059	chr16:80014134-80014135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565556117	chr16:80014155-80014156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62042293	chr16:80014192-80014193	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560102998	chr16:80014193-80014194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs80156228	chr16:80014213-80014214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559932443	chr16:80014273-80014274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144030601	chr16:80014284-80014285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549167936	chr16:80014286-80014287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187517542	chr16:80014309-80014310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371258497	chr16:80014310-80014311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34349614	chr16:80014327-80014328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538025590	chr16:80014329-80014330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549700162	chr16:80014332-80014333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555798765	chr16:80014345-80014346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192327566	chr16:80014349-80014350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146617431	chr16:80014370-80014371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553305270	chr16:80014374-80014375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552547471	chr16:80014392-80014393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4433822	chr16:80014400-80014401	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs368319889	chr16:80014407-80014408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184484840	chr16:80014432-80014433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544898446	chr16:80014455-80014456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111368714	chr16:80014482-80014483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199580572	chr16:80014494-80014495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375836592	chr16:80014495-80014496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs386792728	chr16:80014503-80014504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200614547	chr16:80014504-80014505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Autism	21865298	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80006400-80015000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:80013000-80014600	Weak transcription	K562	blood
3	chr16:80013200-80016200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr16:80013800-80016600	Enhancers	Brain Substantia Nigra	brain
5	chr16:80014200-80015600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:80014200-80016400	Enhancers	Brain Hippocampus Middle	brain
7	chr16:80014400-80016200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr16:80014400-80016400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:80014400-80017000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr16:80014600-80015200	Enhancers	A549	lung
11	chr16:80014600-80015400	Enhancers	HMEC	breast
12	chr16:80014600-80015400	Enhancers	K562	blood
13	chr16:80014600-80016400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr16:80014600-80016400	Enhancers	Brain Anterior Caudate	brain
15	chr16:80014600-80016600	Enhancers	Brain Cingulate Gyrus	brain
16	chr16:80015000-80015200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:80015000-80015400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr16:80015000-80016200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:80015000-80016600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:80015200-80015800	Enhancers	Brain Germinal Matrix	brain
21	chr16:80015200-80016400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:80015400-80016000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:80015400-80020000	Weak transcription	HMEC	breast
24	chr16:80015600-80016200	Enhancers	Brain Angular Gyrus	brain
25	chr16:80015800-80016800	Enhancers	Fetal Brain Female	brain
26	chr16:80015800-80017000	Enhancers	Fetal Brain Male	brain
27	chr16:80016400-80016600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links