Variant report

Variant	nsv876604
Chromosome Location	chr3:20646486-20710994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20691277..20693337-chr3:20693426..20695477,2	MCF-7	breast:
2	chr3:20691277..20693337-chr3:20693426..20695477,2	MCF-7	breast:
3	chr3:20684159..20686441-chr3:20690637..20692411,2	K562	blood:
4	chr3:20687019..20688591-chr3:20688596..20691199,2	K562	blood:
5	chr3:20684159..20686441-chr3:20690637..20692411,2	K562	blood:
6	chr17:56736117..56736939-chr3:20708807..20709685,2	MCF-7	breast:
7	chr3:20687019..20688591-chr3:20688596..20691199,2	K562	blood:

Variant related genes	Relation type
ENSG00000202077	chromatin interactions

Extended variants
information (count: 1102 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1102 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368630059	chr3:20654222-20654223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs386508437	chr3:20654260-20654261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs111361462	chr3:20654368-20654369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs534508626	chr3:20654394-20654395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs552708059	chr3:20654442-20654443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs574607086	chr3:20654446-20654447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs541889879	chr3:20654467-20654468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs75150080	chr3:20654504-20654505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs6780133	chr3:20654523-20654524	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs546516404	chr3:20654557-20654558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs564619420	chr3:20654586-20654587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs528747163	chr3:20654638-20654639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs184760826	chr3:20654639-20654640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs190552071	chr3:20654665-20654666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs374629423	chr3:20654826-20654827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs542996120	chr3:20654829-20654830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs529836562	chr3:20654832-20654833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs180887115	chr3:20654891-20654892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs186067880	chr3:20654895-20654896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs536636636	chr3:20654962-20654963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs9819899	chr3:20654981-20654982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs139096367	chr3:20655071-20655072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs189795853	chr3:20655073-20655074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs534569075	chr3:20655089-20655090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs9861687	chr3:20655103-20655104	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs574269240	chr3:20655121-20655122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs372064280	chr3:20655127-20655128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs147613044	chr3:20655133-20655134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs140539970	chr3:20655134-20655135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs368407607	chr3:20655167-20655168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs57359013	chr3:20655173-20655174	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs9824053	chr3:20655180-20655181	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573596353	chr3:20655182-20655183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs144492033	chr3:20655201-20655202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs562296317	chr3:20655206-20655207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs147855298	chr3:20655208-20655209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs548308729	chr3:20655224-20655225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs563235129	chr3:20655262-20655263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs112495755	chr3:20655266-20655267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs551899405	chr3:20655275-20655276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs570083978	chr3:20655276-20655277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs58616214	chr3:20655370-20655371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs71316264	chr3:20655467-20655468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112011479	chr3:20655489-20655490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs546471964	chr3:20655492-20655493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs567954046	chr3:20655508-20655509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs116059163	chr3:20655534-20655535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs557070254	chr3:20655537-20655538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs181162023	chr3:20655559-20655560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs539887972	chr3:20655570-20655571	ZNF genes & repeats	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:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20654200-20656200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:20660000-20660400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:20661400-20663400	Weak transcription	NHDF-Ad	bronchial
4	chr3:20663400-20664000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:20663400-20664000	Enhancers	NHDF-Ad	bronchial
6	chr3:20663600-20664200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:20663600-20664400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:20663800-20664000	Enhancers	Aorta	Aorta
9	chr3:20664000-20664200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:20664000-20664200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:20664000-20664200	ZNF genes & repeats	Pancreas	Pancrea
12	chr3:20664000-20664400	Flanking Active TSS	NHDF-Ad	bronchial
13	chr3:20664000-20664400	Enhancers	Osteobl	bone
14	chr3:20664000-20664600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:20664200-20664600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:20664400-20665600	Enhancers	NHDF-Ad	bronchial
17	chr3:20672400-20673000	Enhancers	HUVEC	blood vessel
18	chr3:20678600-20679800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:20679000-20679400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:20679000-20679400	Active TSS	Fetal Brain Male	brain
21	chr3:20679000-20679400	Enhancers	NHLF	lung
22	chr3:20679000-20679600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr3:20679000-20679800	Enhancers	NHDF-Ad	bronchial
24	chr3:20679200-20679600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:20679200-20679600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:20679200-20680200	Enhancers	Fetal Lung	lung
27	chr3:20679400-20686600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:20679800-20680800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:20679800-20688000	Weak transcription	NHDF-Ad	bronchial
30	chr3:20680800-20681400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:20681400-20686800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:20686600-20689800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:20686800-20687600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr3:20686800-20691600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:20687000-20687400	Enhancers	Aorta	Aorta
36	chr3:20687200-20687400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr3:20687200-20687400	Enhancers	NHLF	lung
38	chr3:20687400-20688600	Weak transcription	NHLF	lung
39	chr3:20687400-20693200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr3:20687600-20692400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:20688000-20689600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:20688000-20693800	Enhancers	NHDF-Ad	bronchial
43	chr3:20688600-20688800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:20688600-20689000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:20688600-20690800	Enhancers	NHLF	lung
46	chr3:20688600-20691600	Enhancers	NH-A	brain
47	chr3:20688800-20689000	Enhancers	Aorta	Aorta
48	chr3:20688800-20689400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:20689400-20690200	Enhancers	Osteobl	bone
50	chr3:20689400-20690400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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