Variant report

Variant	nsv999258
Chromosome Location	chr3:103393334-103435944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:103424446..103427403-chr3:103429119..103430974,2	MCF-7	breast:
2	chr3:103418196..103420246-chr3:103431375..103433647,2	MCF-7	breast:
3	chr3:103418196..103420246-chr3:103431375..103433647,2	MCF-7	breast:
4	chr3:103424446..103427403-chr3:103429119..103430974,2	MCF-7	breast:

Extended variants
information (count: 1055 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1055 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1511638	chr3:103393334-103393335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539879090	chr3:103393352-103393353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539075823	chr3:103393412-103393413	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557792497	chr3:103393413-103393414	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558172157	chr3:103393416-103393417	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187272707	chr3:103393439-103393440	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115523533	chr3:103393446-103393447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192939583	chr3:103393465-103393466	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561536682	chr3:103393473-103393474	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574167070	chr3:103393562-103393563	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149163830	chr3:103393575-103393576	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112431444	chr3:103393600-103393601	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75386238	chr3:103393629-103393630	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78894203	chr3:103393634-103393635	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74644435	chr3:103393654-103393655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577901884	chr3:103393655-103393656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114461657	chr3:103393657-103393658	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559722137	chr3:103393687-103393688	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544474428	chr3:103393734-103393735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80204169	chr3:103393742-103393743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146841707	chr3:103393753-103393754	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59588328	chr3:103393757-103393758	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs56358700	chr3:103393786-103393787	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs182801265	chr3:103393798-103393799	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140137682	chr3:103393834-103393835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532442324	chr3:103393864-103393865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547662721	chr3:103393865-103393866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187867284	chr3:103393971-103393972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58656976	chr3:103393973-103393974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150296799	chr3:103394009-103394010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6762413	chr3:103394012-103394013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538088818	chr3:103394063-103394064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556707516	chr3:103394083-103394084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373461255	chr3:103394097-103394098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137998618	chr3:103394101-103394102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554010547	chr3:103394110-103394111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192294180	chr3:103394112-103394113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542588742	chr3:103394122-103394123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35992720	chr3:103394123-103394124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375291685	chr3:103394144-103394145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61474742	chr3:103394148-103394149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs576080579	chr3:103394159-103394160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543296590	chr3:103394182-103394183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143509436	chr3:103394247-103394248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532302688	chr3:103394263-103394264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547727684	chr3:103394267-103394268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559656471	chr3:103394271-103394272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201241510	chr3:103394285-103394286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147197140	chr3:103394302-103394303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549342027	chr3:103394319-103394320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Developmental delay	22180640	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103383800-103395000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:103393400-103393800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:103393600-103393800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:103393800-103409000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:103403200-103404000	Enhancers	Fetal Lung	lung
6	chr3:103403800-103404200	Enhancers	Fetal Kidney	kidney
7	chr3:103404200-103404600	Enhancers	Fetal Heart	heart
8	chr3:103409000-103410200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:103412600-103413200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:103412600-103413200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:103423200-103424800	Enhancers	Fetal Heart	heart
12	chr3:103425400-103426200	Enhancers	NHEK	skin
13	chr3:103425400-103426400	Enhancers	HMEC	breast
14	chr3:103425600-103426200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:103425600-103426200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:103426200-103430800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:103426200-103430800	Weak transcription	NHEK	skin
18	chr3:103426200-103431000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:103426400-103431000	Weak transcription	HMEC	breast
20	chr3:103427600-103427800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:103430800-103431200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:103430800-103431800	Enhancers	HUVEC	blood vessel
23	chr3:103430800-103431800	Enhancers	NHEK	skin
24	chr3:103431000-103431400	Enhancers	HMEC	breast
25	chr3:103431000-103431800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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