Variant report

Variant	nsv508251
Chromosome Location	chr3:145438309-145492113
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:144984069..144984806-chr3:145485343..145486312,4	MCF-7	breast:
2	chr3:144983996..144984506-chr3:145485486..145486139,2	MCF-7	breast:
3	chr3:144561413..144562304-chr3:145485449..145486072,2	MCF-7	breast:

Extended variants
information (count: 538 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:538 , 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	rs370991640	chr3:145438318-145438319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372919952	chr3:145438367-145438368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374771751	chr3:145438393-145438394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373262809	chr3:145438396-145438397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182568830	chr3:145438404-145438405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376167974	chr3:145438413-145438414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369180629	chr3:145438414-145438415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370542715	chr3:145438416-145438417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554768092	chr3:145438419-145438420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374593750	chr3:145438424-145438425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367789097	chr3:145438432-145438433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187228639	chr3:145438467-145438468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188757641	chr3:145438496-145438497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371516750	chr3:145438522-145438523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374993059	chr3:145438523-145438524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370244487	chr3:145438566-145438567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374622608	chr3:145438567-145438568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181611654	chr3:145438595-145438596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368639015	chr3:145438614-145438615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534031968	chr3:145438615-145438616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185333510	chr3:145438633-145438634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372738543	chr3:145438654-145438655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377127205	chr3:145438663-145438664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61723773	chr3:145438664-145438665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368248492	chr3:145438665-145438666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371754136	chr3:145438681-145438682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61727512	chr3:145438699-145438700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376038041	chr3:145438700-145438701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369011099	chr3:145438708-145438709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372968570	chr3:145438718-145438719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190243868	chr3:145438725-145438726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374918645	chr3:145438736-145438737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369338512	chr3:145438748-145438749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373105171	chr3:145438764-145438765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376605976	chr3:145438765-145438766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182484734	chr3:145438772-145438773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369923107	chr3:145438773-145438774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373380461	chr3:145438799-145438800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186273477	chr3:145438862-145438863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191930416	chr3:145438899-145438900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577510903	chr3:145438907-145438908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539890811	chr3:145438972-145438973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376250223	chr3:145439050-145439051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201407210	chr3:145439058-145439059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200681979	chr3:145439177-145439178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375202703	chr3:145439181-145439182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576695755	chr3:145439182-145439183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12491765	chr3:145439196-145439197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs78381152	chr3:145439210-145439211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544340431	chr3:145439246-145439247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145437800-145439200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:145437800-145439200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:145437800-145439200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:145437800-145439400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:145437800-145439400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:145437800-145439400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:145437800-145439600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:145439200-145439600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:145439200-145439600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:145439200-145440000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:145439200-145440000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:145439400-145439600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:145439400-145439800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:145439400-145439800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:145439400-145440200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:145439600-145440000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:145440200-145443200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:145445200-145445800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr3:145453200-145453800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:145453600-145454000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:145467400-145469600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:145467800-145468200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:145468200-145468600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:145468600-145468800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:145468800-145471800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:145469600-145471400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:145470400-145471000	Enhancers	Fetal Stomach	stomach
28	chr3:145470800-145474200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr3:145471400-145474600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:145471800-145472800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:145471800-145474000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:145472000-145473000	Enhancers	Brain Anterior Caudate	brain
33	chr3:145474200-145474600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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