Variant report

Variant	nsv460462
Chromosome Location	chr3:20684823-20708251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20687019..20688591-chr3:20688596..20691199,2	K562	blood:
2	chr3:20687019..20688591-chr3:20688596..20691199,2	K562	blood:
3	chr3:20691277..20693337-chr3:20693426..20695477,2	MCF-7	breast:
4	chr3:20684159..20686441-chr3:20690637..20692411,2	K562	blood:
5	chr3:20691277..20693337-chr3:20693426..20695477,2	MCF-7	breast:
6	chr3:20684159..20686441-chr3:20690637..20692411,2	K562	blood:

Extended variants
information (count: 478 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9831240	chr3:20684823-20684824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113254038	chr3:20684861-20684862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546423261	chr3:20684871-20684872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564711459	chr3:20684872-20684873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551901363	chr3:20684913-20684914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543350208	chr3:20684924-20684925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528779842	chr3:20684943-20684944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540951465	chr3:20684973-20684974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376102141	chr3:20684975-20684976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565321299	chr3:20685059-20685060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550758913	chr3:20685061-20685062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9835418	chr3:20685065-20685066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs143042624	chr3:20685086-20685087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567952104	chr3:20685091-20685092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570344025	chr3:20685096-20685097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534590234	chr3:20685117-20685118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536861234	chr3:20685119-20685120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146161329	chr3:20685120-20685121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567928762	chr3:20685131-20685132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377509141	chr3:20685173-20685174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376555367	chr3:20685175-20685176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13088722	chr3:20685180-20685181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557048628	chr3:20685228-20685229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575408257	chr3:20685240-20685241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9835693	chr3:20685241-20685242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs558360160	chr3:20685267-20685268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573497014	chr3:20685268-20685269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373805130	chr3:20685272-20685273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111336841	chr3:20685274-20685275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150525260	chr3:20685278-20685279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529223470	chr3:20685312-20685313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544588830	chr3:20685334-20685335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562586888	chr3:20685335-20685336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28500600	chr3:20685346-20685347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28678316	chr3:20685347-20685348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112951324	chr3:20685350-20685351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113548169	chr3:20685351-20685352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200444707	chr3:20685371-20685372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533239274	chr3:20685378-20685379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75276431	chr3:20685438-20685439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12489862	chr3:20685441-20685442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528306366	chr3:20685483-20685484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200488683	chr3:20685587-20685588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12493317	chr3:20685589-20685590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs75602908	chr3:20685642-20685643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368090163	chr3:20685648-20685649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556981024	chr3:20685679-20685680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568899607	chr3:20685710-20685711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539510862	chr3:20685737-20685738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528872390	chr3:20685742-20685743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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	22495311	CNVD
Cancer	20164919	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20679400-20686600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:20679800-20688000	Weak transcription	NHDF-Ad	bronchial
3	chr3:20681400-20686800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:20686600-20689800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:20686800-20687600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr3:20686800-20691600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:20687000-20687400	Enhancers	Aorta	Aorta
8	chr3:20687200-20687400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr3:20687200-20687400	Enhancers	NHLF	lung
10	chr3:20687400-20688600	Weak transcription	NHLF	lung
11	chr3:20687400-20693200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:20687600-20692400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:20688000-20689600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:20688000-20693800	Enhancers	NHDF-Ad	bronchial
15	chr3:20688600-20688800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:20688600-20689000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:20688600-20690800	Enhancers	NHLF	lung
18	chr3:20688600-20691600	Enhancers	NH-A	brain
19	chr3:20688800-20689000	Enhancers	Aorta	Aorta
20	chr3:20688800-20689400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:20689400-20690200	Enhancers	Osteobl	bone
22	chr3:20689400-20690400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:20689400-20690600	Enhancers	HUVEC	blood vessel
24	chr3:20689400-20690800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:20689400-20690800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr3:20689600-20690200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:20689800-20691200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:20690200-20690600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:20690400-20690600	Enhancers	Fetal Muscle Leg	muscle
30	chr3:20690600-20693600	Weak transcription	Fetal Muscle Leg	muscle
31	chr3:20690600-20693800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:20690800-20693800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr3:20690800-20693800	Weak transcription	NHLF	lung
34	chr3:20691200-20692000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:20691600-20693200	Weak transcription	NH-A	brain
36	chr3:20691600-20693400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:20692000-20693800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:20692400-20693000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr3:20692800-20693400	Enhancers	Fetal Brain Male	brain
40	chr3:20692800-20693400	Enhancers	Ovary	ovary
41	chr3:20693000-20693800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:20693200-20693800	Enhancers	Brain Germinal Matrix	brain
43	chr3:20693200-20693800	Enhancers	Fetal Lung	lung
44	chr3:20693200-20693800	Enhancers	NH-A	brain
45	chr3:20693200-20694000	Enhancers	Fetal Brain Female	brain
46	chr3:20693200-20694200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr3:20693400-20694600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:20693600-20694000	Enhancers	Fetal Muscle Leg	muscle
49	chr3:20693800-20694000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr3:20693800-20694000	Active TSS	NHDF-Ad	bronchial

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