Variant report

Variant	nsv1013005
Chromosome Location	chr3:145285648-145357856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:57783949..57786666-chr3:145323683..145325682,2	MCF-7	breast:
2	chr3:145351605..145353581-chr3:145359076..145360606,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000062716	chromatin interactions
ENSG00000141378	chromatin interactions

Extended variants
information (count: 505 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369054881	chr3:145296203-145296204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79097624	chr3:145296207-145296208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547193350	chr3:145296259-145296260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117058475	chr3:145296267-145296268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1731412	chr3:145296295-145296296	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs567771081	chr3:145296297-145296298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142739521	chr3:145296301-145296302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201754843	chr3:145296368-145296369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569206006	chr3:145296396-145296397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11706858	chr3:145296398-145296399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73872288	chr3:145296415-145296416	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551679063	chr3:145296421-145296422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533785558	chr3:145296445-145296446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558324034	chr3:145296501-145296502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571602091	chr3:145296505-145296506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148452628	chr3:145296506-145296507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562363173	chr3:145296514-145296515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574339177	chr3:145296545-145296546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113866228	chr3:145296557-145296558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141711696	chr3:145296565-145296566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560315255	chr3:145296672-145296673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527597496	chr3:145296696-145296697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150595044	chr3:145296698-145296699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150012972	chr3:145296743-145296744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113654849	chr3:145296745-145296746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12629826	chr3:145296773-145296774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs111995407	chr3:145296775-145296776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114710803	chr3:145323693-145323694	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs141529064	chr3:145323697-145323698	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs1608312	chr3:145323711-145323712	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs2222724	chr3:145323803-145323804	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191148825	chr3:145323828-145323829	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs560462980	chr3:145323901-145323902	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs375570686	chr3:145323906-145323907	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs527287558	chr3:145323931-145323932	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs183700712	chr3:145323961-145323962	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs570469591	chr3:145323963-145323964	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs559876143	chr3:145323995-145323996	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs547382237	chr3:145324017-145324018	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs190464353	chr3:145324036-145324037	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs150873281	chr3:145324037-145324038	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs1608311	chr3:145324049-145324050	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs138491476	chr3:145324058-145324059	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs573151941	chr3:145324080-145324081	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs533939544	chr3:145324085-145324086	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs558874061	chr3:145324092-145324093	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs577149886	chr3:145324146-145324147	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs530894724	chr3:145324260-145324261	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs544728247	chr3:145324268-145324269	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs193140199	chr3:145324295-145324296	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145296200-145296600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:145296200-145296800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr3:145296200-145296800	Enhancers	Stomach Smooth Muscle	stomach
4	chr3:145329000-145329200	ZNF genes & repeats	Pancreas	Pancrea
5	chr3:145337400-145338600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:145337600-145338000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:145337800-145338600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:145341200-145341600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:145344000-145344600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:145346000-145346400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:145346000-145346400	Enhancers	HMEC	breast
12	chr3:145349400-145359600	Weak transcription	Aorta	Aorta
13	chr3:145354000-145354400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:145356600-145358400	Enhancers	Fetal Heart	heart
15	chr3:145357200-145358400	Enhancers	Fetal Intestine Large	intestine
16	chr3:145357400-145358400	Enhancers	HepG2	liver

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