Variant report

Variant	nsv967051
Chromosome Location	chr3:111902412-111904661
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200995819	chr3:111902751-111902752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530216347	chr3:111903213-111903214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550056595	chr3:111903311-111903312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374475017	chr3:111903415-111903416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371650619	chr3:111903417-111903418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532426535	chr3:111903419-111903420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552022946	chr3:111903461-111903462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12054138	chr3:111903462-111903463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534468546	chr3:111903579-111903580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554345382	chr3:111903603-111903604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568209604	chr3:111903607-111903608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537140145	chr3:111903608-111903609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556812845	chr3:111903628-111903629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193264685	chr3:111903632-111903633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545837677	chr3:111903648-111903649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559261706	chr3:111903750-111903751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572787178	chr3:111903768-111903769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541593866	chr3:111903809-111903810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561531683	chr3:111903898-111903899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200627774	chr3:111903931-111903932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543887163	chr3:111904111-111904112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368439104	chr3:111904120-111904121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368429212	chr3:111904234-111904235	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4682091	chr3:111904245-111904246	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs113877905	chr3:111904246-111904247	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565598983	chr3:111904269-111904270	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528361353	chr3:111904275-111904276	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377020140	chr3:111904320-111904321	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548126185	chr3:111904374-111904375	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185141269	chr3:111904384-111904385	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141696398	chr3:111904389-111904390	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55923677	chr3:111904412-111904413	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536883568	chr3:111904420-111904421	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556983773	chr3:111904426-111904427	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570473948	chr3:111904427-111904428	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539391811	chr3:111904443-111904444	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553011938	chr3:111904452-111904453	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572913993	chr3:111904497-111904498	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541741464	chr3:111904536-111904537	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2399407	chr3:111904539-111904540	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs371655326	chr3:111904563-111904564	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190433432	chr3:111904594-111904595	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111885400-111904200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:111885400-111904600	Weak transcription	Left Ventricle	heart
3	chr3:111892400-111904600	Weak transcription	Thymus	Thymus
4	chr3:111904200-111904400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:111904200-111904400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:111904200-111904800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:111904200-111905000	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr3:111904400-111904600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:111904400-111904600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:111904400-111904600	Enhancers	Fetal Muscle Leg	muscle
11	chr3:111904400-111904800	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr3:111904400-111904800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr3:111904400-111904800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:111904400-111904800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:111904400-111904800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:111904400-111904800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:111904400-111904800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:111904400-111904800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:111904400-111904800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:111904400-111904800	Enhancers	Esophagus	oesophagus
21	chr3:111904400-111905000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr3:111904400-111905000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr3:111904400-111905000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr3:111904400-111905000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:111904400-111905000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:111904400-111905000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:111904400-111905000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:111904400-111905000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:111904400-111905000	Active TSS	Brain Angular Gyrus	brain
30	chr3:111904400-111905000	Active TSS	Brain Hippocampus Middle	brain
31	chr3:111904400-111905000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr3:111904400-111905000	Active TSS	Fetal Brain Female	brain
33	chr3:111904400-111905000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr3:111904400-111905200	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr3:111904400-111905200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr3:111904600-111904800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:111904600-111904800	Active TSS	Primary hematopoietic stem cells	blood
38	chr3:111904600-111904800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr3:111904600-111904800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:111904600-111904800	Flanking Active TSS	Left Ventricle	heart
41	chr3:111904600-111904800	Active TSS	Thymus	Thymus
42	chr3:111904600-111905000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr3:111904600-111905000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr3:111904600-111905000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:111904600-111905000	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr3:111904600-111905000	Active TSS	Brain Anterior Caudate	brain
47	chr3:111904600-111905000	Active TSS	Brain Germinal Matrix	brain
48	chr3:111904600-111905000	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr3:111904600-111905000	Enhancers	Fetal Muscle Trunk	muscle
50	chr3:111904600-111905000	Active TSS	Right Ventricle	heart

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