Variant report

Variant	nsv527725
Chromosome Location	chr3:61158423-61160226
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1880218	chr3:61158423-61158424	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184497575	chr3:61158424-61158425	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs116904295	chr3:61158454-61158455	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs561860998	chr3:61158455-61158456	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs573669689	chr3:61158479-61158480	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs553057013	chr3:61158558-61158559	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs541028439	chr3:61158606-61158607	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs143742638	chr3:61158659-61158660	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs9839082	chr3:61158669-61158670	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115640457	chr3:61158715-61158716	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs148141137	chr3:61158727-61158728	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs531421382	chr3:61158736-61158737	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533274797	chr3:61158750-61158751	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556439370	chr3:61158807-61158808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141084492	chr3:61158840-61158841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568186459	chr3:61158856-61158857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535395949	chr3:61158872-61158873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547427295	chr3:61158878-61158879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566357276	chr3:61158887-61158888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150275913	chr3:61158888-61158889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371979816	chr3:61158906-61158907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371073532	chr3:61158930-61158931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143398537	chr3:61158957-61158958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80120037	chr3:61159016-61159017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13323296	chr3:61159033-61159034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs528795697	chr3:61159058-61159059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75348221	chr3:61159086-61159087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573804046	chr3:61159108-61159109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561944832	chr3:61159135-61159136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576220330	chr3:61159145-61159146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187938452	chr3:61159147-61159148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559369985	chr3:61159186-61159187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138699465	chr3:61159224-61159225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545813069	chr3:61159233-61159234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564424322	chr3:61159258-61159259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531379369	chr3:61159286-61159287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376454464	chr3:61159309-61159310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543647580	chr3:61159362-61159363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142752034	chr3:61159417-61159418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35789205	chr3:61159440-61159441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76140277	chr3:61159449-61159450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144531607	chr3:61159469-61159470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564672903	chr3:61159482-61159483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1550343	chr3:61159488-61159489	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73095064	chr3:61159544-61159545	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs570331243	chr3:61159571-61159572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537206574	chr3:61159582-61159583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555580195	chr3:61159592-61159593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377650404	chr3:61159662-61159663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538833044	chr3:61159670-61159671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61149400-61159400	Weak transcription	Fetal Intestine Large	intestine
2	chr3:61151200-61188000	Weak transcription	Primary T cells from cord blood	blood
3	chr3:61154200-61160400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:61156200-61159400	Weak transcription	Liver	Liver
5	chr3:61157200-61160000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:61157400-61158800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:61157400-61159600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:61157400-61161200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:61157600-61161000	Enhancers	Primary hematopoietic stem cells	blood
10	chr3:61158000-61158600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr3:61158000-61158600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:61158000-61158600	Enhancers	Dnd41	blood
13	chr3:61158000-61158800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:61158000-61159600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:61158200-61158600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:61158200-61158800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:61158200-61158800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:61158200-61158800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:61158200-61159400	Enhancers	GM12878-XiMat	blood
20	chr3:61158400-61158800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:61158400-61158800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:61158400-61158800	Enhancers	Brain Substantia Nigra	brain
23	chr3:61158400-61158800	Enhancers	Pancreas	Pancrea
24	chr3:61158400-61159000	Enhancers	Gastric	stomach
25	chr3:61158800-61159200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:61158800-61159200	Weak transcription	Brain Substantia Nigra	brain
27	chr3:61158800-61160200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:61158800-61160600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:61158800-61172000	Weak transcription	Pancreas	Pancrea
30	chr3:61159000-61159400	Weak transcription	Gastric	stomach
31	chr3:61159000-61159600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:61159000-61159800	Enhancers	Fetal Heart	heart
33	chr3:61159200-61159400	Enhancers	Brain Substantia Nigra	brain
34	chr3:61159200-61160000	Enhancers	HepG2	liver
35	chr3:61159400-61159600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:61159400-61159600	Enhancers	Gastric	stomach
37	chr3:61159400-61159800	Enhancers	Liver	Liver
38	chr3:61159400-61160000	Enhancers	Fetal Intestine Large	intestine
39	chr3:61159400-61163400	Weak transcription	Brain Substantia Nigra	brain
40	chr3:61159600-61172000	Weak transcription	Gastric	stomach
41	chr3:61159800-61168200	Weak transcription	Fetal Heart	heart
42	chr3:61160000-61163400	Weak transcription	Brain Hippocampus Middle	brain
43	chr3:61160200-61160600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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