Variant report

Variant	nsv522508
Chromosome Location	chr3:60432292-60448261
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	chr3:60435518..60437406-chr3:60439396..60441037,2	K562	blood:
2	chr3:60435518..60437406-chr3:60439396..60441037,2	K562	blood:

Extended variants
information (count: 320 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs478899	chr3:60432292-60432293	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191264878	chr3:60432327-60432328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147039889	chr3:60432387-60432388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113618734	chr3:60432390-60432391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374674996	chr3:60432428-60432429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73098233	chr3:60432446-60432447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs553884245	chr3:60432485-60432486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367758112	chr3:60432490-60432491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572224343	chr3:60432492-60432493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371933713	chr3:60432512-60432513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141892683	chr3:60432526-60432527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564739325	chr3:60432527-60432528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558618804	chr3:60432572-60432573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144268974	chr3:60432590-60432591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369196504	chr3:60432591-60432592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370258455	chr3:60432596-60432597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56053122	chr3:60432634-60432635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34821370	chr3:60432640-60432641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533740	chr3:60432694-60432695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75531782	chr3:60432708-60432709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544535686	chr3:60432723-60432724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185701920	chr3:60432730-60432731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529718980	chr3:60432733-60432734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190283258	chr3:60432749-60432750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573148552	chr3:60432751-60432752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527386846	chr3:60432786-60432787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193173022	chr3:60432803-60432804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs393749	chr3:60432806-60432807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs383180	chr3:60432807-60432808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185311709	chr3:60432817-60432818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113469865	chr3:60432833-60432834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113288886	chr3:60432834-60432835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116526848	chr3:60432911-60432912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535808444	chr3:60432925-60432926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112547559	chr3:60432946-60432947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572159135	chr3:60432951-60432952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188861245	chr3:60432982-60432983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565380699	chr3:60433027-60433028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373412375	chr3:60433094-60433095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139304013	chr3:60433125-60433126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372121086	chr3:60433129-60433130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78010174	chr3:60433133-60433134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541675437	chr3:60433153-60433154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149413160	chr3:60433199-60433200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376515372	chr3:60433201-60433202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574657436	chr3:60433204-60433205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545544336	chr3:60433213-60433214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386348	chr3:60433224-60433225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560201718	chr3:60433226-60433227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527375251	chr3:60433239-60433240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Cancer	18162546	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60431000-60434800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:60432000-60432400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:60434200-60435000	Enhancers	Fetal Stomach	stomach
4	chr3:60434200-60435000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr3:60434800-60435200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:60434800-60435200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr3:60439000-60439400	Enhancers	Fetal Intestine Large	intestine
8	chr3:60441800-60442400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr3:60442000-60442400	Enhancers	Primary T cells from cord blood	blood
10	chr3:60446400-60448000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:60446600-60447600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:60446800-60447600	Enhancers	Adipose Nuclei	Adipose
13	chr3:60447200-60447800	Enhancers	Fetal Muscle Leg	muscle

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