Variant report

Variant	nsv966960
Chromosome Location	chr3:145216267-145223696
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	chr3:145223411..145224951-chr8:4505239..4506739,2	K562	blood:

Extended variants
information (count: 215 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190523653	chr3:145216299-145216300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537746442	chr3:145216304-145216305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556049227	chr3:145216323-145216324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374603450	chr3:145216325-145216326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371806832	chr3:145216348-145216349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143705415	chr3:145216414-145216415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13093625	chr3:145216434-145216435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs578070417	chr3:145216445-145216446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368161635	chr3:145216460-145216461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552972636	chr3:145216494-145216495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530578492	chr3:145216501-145216502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111918082	chr3:145216511-145216512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77844685	chr3:145216518-145216519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560898485	chr3:145216551-145216552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371582420	chr3:145216559-145216560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183320089	chr3:145216615-145216616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138278742	chr3:145216622-145216623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532247646	chr3:145216632-145216633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144324420	chr3:145216648-145216649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375230595	chr3:145216664-145216665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542748910	chr3:145216679-145216680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369855823	chr3:145216689-145216690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537688366	chr3:145216755-145216756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6789921	chr3:145216757-145216758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540650029	chr3:145216767-145216768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567981270	chr3:145216779-145216780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116596154	chr3:145216793-145216794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565410546	chr3:145216834-145216835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556504851	chr3:145216878-145216879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553355545	chr3:145216949-145216950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6765549	chr3:145216955-145216956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187765788	chr3:145216958-145216959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369881271	chr3:145216960-145216961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193123534	chr3:145216976-145216977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575334255	chr3:145216991-145216992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202013860	chr3:145217003-145217004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142960155	chr3:145217005-145217006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573111612	chr3:145217042-145217043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530273143	chr3:145217054-145217055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540120631	chr3:145217058-145217059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373412551	chr3:145217083-145217084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536144570	chr3:145217100-145217101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564903436	chr3:145217119-145217120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531961919	chr3:145217125-145217126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190013673	chr3:145217154-145217155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146113549	chr3:145217166-145217167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs118021224	chr3:145217181-145217182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529797269	chr3:145217191-145217192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549625407	chr3:145217193-145217194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199952583	chr3:145217214-145217215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145208800-145220200	Weak transcription	Left Ventricle	heart
2	chr3:145220400-145221200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:145221000-145221400	Enhancers	Adipose Nuclei	Adipose
4	chr3:145221200-145221400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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