Variant report

Variant	nsv524040
Chromosome Location	chr3:19266335-19269852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1389538	chr3:19266335-19266336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530024728	chr3:19266369-19266370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77533342	chr3:19266387-19266388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569789634	chr3:19266395-19266396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537118929	chr3:19266399-19266400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538638900	chr3:19266464-19266465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552406096	chr3:19266479-19266480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570983196	chr3:19266487-19266488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534908386	chr3:19266488-19266489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544898100	chr3:19266508-19266509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554424419	chr3:19266526-19266527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558579239	chr3:19266556-19266557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575245033	chr3:19266572-19266573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536232301	chr3:19266586-19266587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554577463	chr3:19266602-19266603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558851366	chr3:19266645-19266646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78375545	chr3:19266677-19266678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13074593	chr3:19266702-19266703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13097537	chr3:19266703-19266704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371575584	chr3:19266704-19266705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543505107	chr3:19266816-19266817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374144556	chr3:19266905-19266906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190152869	chr3:19266911-19266912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182665089	chr3:19266952-19266953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540907275	chr3:19267009-19267010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572060985	chr3:19267028-19267029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572258777	chr3:19267050-19267051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185845276	chr3:19267075-19267076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79132394	chr3:19267082-19267083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148522890	chr3:19267107-19267108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563309256	chr3:19267155-19267156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530823075	chr3:19267159-19267160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552592478	chr3:19267221-19267222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190600321	chr3:19267267-19267268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541172398	chr3:19267277-19267278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370859395	chr3:19267280-19267281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560947999	chr3:19267284-19267285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374001610	chr3:19267301-19267302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546908202	chr3:19267328-19267329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568693377	chr3:19267355-19267356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183802036	chr3:19267364-19267365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557699696	chr3:19267371-19267372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144476885	chr3:19267373-19267374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536697056	chr3:19267379-19267380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530182818	chr3:19267381-19267382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558608887	chr3:19267409-19267410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543962897	chr3:19267431-19267432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189112229	chr3:19267445-19267446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9827701	chr3:19267452-19267453	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs371953982	chr3:19267513-19267514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19255600-19268000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:19258600-19273200	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:19262400-19286200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:19262800-19272200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:19263000-19266400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:19263000-19267800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:19263000-19268000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:19263200-19267800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:19263400-19267800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:19267400-19268600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:19267800-19268200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:19267800-19268600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:19267800-19268600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:19267800-19268600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:19267800-19268600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:19267800-19268600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:19268000-19268400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:19268000-19268400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:19268000-19268400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr3:19268000-19268600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr3:19268400-19268800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr3:19268600-19269600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:19269600-19269800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:19269600-19270000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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