Variant report

Variant	nsv591274
Chromosome Location	chr3:110283716-110321035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:110282414..110285256-chr3:110286686..110288676,2	K562	blood:
2	chr3:110279243..110282023-chr3:110283429..110285882,2	K562	blood:
3	chr19:49845864..49846607-chr3:110315550..110316370,2	MCF-7	breast:
4	chr3:110302646..110303511-chr3:110658446..110659012,2	MCF-7	breast:
5	chr3:110282414..110285256-chr3:110286686..110288676,2	K562	blood:

Extended variants
information (count: 1394 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1394 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1512514	chr3:110283716-110283717	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557292523	chr3:110283740-110283741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577394537	chr3:110283761-110283762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545561583	chr3:110283803-110283804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553069818	chr3:110283808-110283809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs202145361	chr3:110283814-110283815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572875133	chr3:110283840-110283841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61290617	chr3:110283858-110283859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11926648	chr3:110283884-110283885	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs6763158	chr3:110283905-110283906	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188541754	chr3:110283909-110283910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34482562	chr3:110283921-110283922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530367829	chr3:110283970-110283971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544368284	chr3:110284035-110284036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564106189	chr3:110284066-110284067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79046898	chr3:110284173-110284174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552381704	chr3:110284224-110284225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566168288	chr3:110284227-110284228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553239914	chr3:110284229-110284230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549592071	chr3:110284356-110284357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143549381	chr3:110284372-110284373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13065299	chr3:110284475-110284476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537325453	chr3:110284511-110284512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551288945	chr3:110284573-110284574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570944006	chr3:110284590-110284591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532260614	chr3:110284595-110284596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114150648	chr3:110284681-110284682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563492013	chr3:110284788-110284789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552749528	chr3:110284791-110284792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552174885	chr3:110284817-110284818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572986399	chr3:110284821-110284822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181288728	chr3:110284853-110284854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555426645	chr3:110284931-110284932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575340179	chr3:110284954-110284955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544165142	chr3:110284972-110284973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35129668	chr3:110284975-110284976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs185153898	chr3:110285088-110285089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540431792	chr3:110285145-110285146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567186299	chr3:110285155-110285156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564027194	chr3:110285178-110285179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112078161	chr3:110285190-110285191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528584450	chr3:110285263-110285264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34117852	chr3:110285280-110285281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148124500	chr3:110285284-110285285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141897287	chr3:110285290-110285291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530973298	chr3:110285309-110285310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188254623	chr3:110285310-110285311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571129407	chr3:110285313-110285314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539607901	chr3:110285439-110285440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181053004	chr3:110285454-110285455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110270000-110286800	Weak transcription	K562	blood
2	chr3:110281800-110286600	Weak transcription	Osteobl	bone
3	chr3:110281800-110286800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:110281800-110286800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:110282200-110285200	Weak transcription	A549	lung
6	chr3:110282200-110286000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:110283400-110283800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:110283800-110284000	Enhancers	NHDF-Ad	bronchial
9	chr3:110283800-110285800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:110284000-110285800	Weak transcription	NHDF-Ad	bronchial
11	chr3:110285200-110287000	Enhancers	A549	lung
12	chr3:110285800-110286000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:110285800-110286000	Enhancers	NHDF-Ad	bronchial
14	chr3:110285800-110287600	Enhancers	NH-A	brain
15	chr3:110285800-110287800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:110286000-110286400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:110286000-110286800	Weak transcription	NHDF-Ad	bronchial
18	chr3:110286000-110287400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr3:110286000-110287600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:110286000-110287800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:110286400-110287400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:110286600-110287400	Enhancers	NHLF	lung
23	chr3:110286600-110287800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:110286600-110287800	Enhancers	Osteobl	bone
25	chr3:110286800-110287000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:110286800-110287400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:110286800-110287400	Enhancers	HSMMtube	muscle
28	chr3:110286800-110287600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:110286800-110287600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:110286800-110287600	Enhancers	HMEC	breast
31	chr3:110286800-110287600	Enhancers	NHEK	skin
32	chr3:110286800-110287800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:110286800-110287800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr3:110286800-110288200	Enhancers	NHDF-Ad	bronchial
35	chr3:110287000-110287400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr3:110287000-110287400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:110287000-110287400	Flanking Active TSS	A549	lung
38	chr3:110287000-110287600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:110287000-110287600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr3:110287000-110287800	Enhancers	HSMM	muscle
41	chr3:110287400-110287600	Enhancers	A549	lung
42	chr3:110287400-110288200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:110287600-110295400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:110287800-110289400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:110288200-110294400	Weak transcription	NHDF-Ad	bronchial
46	chr3:110288200-110294600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:110289400-110290400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:110290400-110295400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:110293000-110293400	Enhancers	Dnd41	blood
50	chr3:110293400-110301600	Weak transcription	Dnd41	blood

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