Variant report

Variant	esv3347324
Chromosome Location	chr16:58780726-58782674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568728197	chr16:58780729-58780730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574029353	chr16:58780751-58780752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536070212	chr16:58780759-58780760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140535898	chr16:58780819-58780820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144408431	chr16:58780846-58780847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182779645	chr16:58780893-58780894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72792430	chr16:58780894-58780895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs572753499	chr16:58780950-58780951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547422688	chr16:58780951-58780952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551217689	chr16:58780964-58780965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532018573	chr16:58781007-58781008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539802976	chr16:58781010-58781011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374875976	chr16:58781020-58781021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561664290	chr16:58781043-58781044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1615326	chr16:58781052-58781053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs372032130	chr16:58781064-58781065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544032852	chr16:58781070-58781071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562530179	chr16:58781071-58781072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531076876	chr16:58781072-58781073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552383884	chr16:58781081-58781082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570874924	chr16:58781084-58781085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1616072	chr16:58781098-58781099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs546980843	chr16:58781128-58781129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370131325	chr16:58781168-58781169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536133425	chr16:58781184-58781185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533097319	chr16:58781221-58781222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557566290	chr16:58781236-58781237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151074745	chr16:58781248-58781249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548929139	chr16:58781265-58781266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200744501	chr16:58781270-58781271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139786455	chr16:58781274-58781275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9929476	chr16:58781304-58781305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372483430	chr16:58781305-58781306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2575374	chr16:58781398-58781399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs143486535	chr16:58781433-58781434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs67126044	chr16:58781434-58781435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2575375	chr16:58781438-58781439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568828461	chr16:58781439-58781440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201955177	chr16:58781441-58781442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149786602	chr16:58781458-58781459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71157906	chr16:58781459-58781460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs67277144	chr16:58781460-58781461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12931355	chr16:58781462-58781463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544094051	chr16:58781468-58781469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113952747	chr16:58781472-58781473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375311458	chr16:58781473-58781474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368285342	chr16:58781478-58781479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111581322	chr16:58781480-58781481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371253581	chr16:58781482-58781483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12448552	chr16:58781484-58781485	Weak transcription	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58768600-58781000	Weak transcription	Colonic Mucosa	Colon
2	chr16:58776600-58790000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:58778400-58782400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:58780600-58780800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:58782400-58782800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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