Variant report

Variant	nsv1014344
Chromosome Location	chr3:133024614-133042938
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	chr3:133033760..133035440-chr3:133035575..133038496,2	MCF-7	breast:
2	chr3:133033760..133035440-chr3:133035575..133038496,2	MCF-7	breast:

Extended variants
information (count: 654 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:654 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578193383	chr3:133024619-133024620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540353369	chr3:133024689-133024690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575234192	chr3:133024733-133024734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192594671	chr3:133024783-133024784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564272430	chr3:133024842-133024843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62279014	chr3:133024861-133024862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546876995	chr3:133024862-133024863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547736587	chr3:133024867-133024868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369999025	chr3:133024868-133024869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560470439	chr3:133024892-133024893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529213988	chr3:133024921-133024922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62279015	chr3:133024922-133024923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs143122296	chr3:133024927-133024928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184406767	chr3:133024982-133024983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556478900	chr3:133024992-133024993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189018421	chr3:133025033-133025034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375870020	chr3:133025108-133025109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62279016	chr3:133025121-133025122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs75785634	chr3:133025177-133025178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558905287	chr3:133025192-133025193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62279017	chr3:133025209-133025210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572070445	chr3:133025227-133025228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11926667	chr3:133025244-133025245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs202054549	chr3:133025262-133025263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140392493	chr3:133025305-133025306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560848357	chr3:133025309-133025310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567843137	chr3:133025310-133025311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536987015	chr3:133025329-133025330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555061769	chr3:133025345-133025346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74894454	chr3:133025361-133025362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544280130	chr3:133025362-133025363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557898048	chr3:133025367-133025368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577882155	chr3:133025386-133025387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574533997	chr3:133025402-133025403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114246715	chr3:133025412-133025413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145512943	chr3:133025438-133025439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2699871	chr3:133025451-133025452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs182093697	chr3:133025454-133025455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532308676	chr3:133025457-133025458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551426256	chr3:133025509-133025510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571430701	chr3:133025525-133025526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11919010	chr3:133025561-133025562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs368591926	chr3:133025582-133025583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7619504	chr3:133025612-133025613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs567889716	chr3:133025620-133025621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536544318	chr3:133025627-133025628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373609248	chr3:133025674-133025675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527763230	chr3:133025723-133025724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556821933	chr3:133025732-133025733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568721327	chr3:133025758-133025759	Weak transcription	n/a	n/a	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
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
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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133016400-133038200	Weak transcription	Fetal Lung	lung
2	chr3:133021000-133031800	Weak transcription	HSMM	muscle
3	chr3:133021000-133037600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:133033600-133033800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:133033800-133034400	Enhancers	HUVEC	blood vessel
6	chr3:133034000-133038000	Enhancers	Fetal Brain Male	brain
7	chr3:133034400-133034600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:133034400-133036600	Enhancers	Fetal Brain Female	brain
9	chr3:133037600-133037800	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:133037800-133038600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr3:133038200-133038800	ZNF genes & repeats	Fetal Lung	lung
12	chr3:133038400-133039000	ZNF genes & repeats	Brain Germinal Matrix	brain
13	chr3:133039600-133040400	ZNF genes & repeats	Fetal Lung	lung

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