Variant report

Variant	nsv3926
Chromosome Location	chr3:102213136-102257633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:101954224..101955261-chr3:102248060..102248912,4	MCF-7	breast:
2	chr3:102184197..102185596-chr3:102248087..102248957,3	MCF-7	breast:
3	chr3:101947690..101948571-chr3:102248035..102249002,3	MCF-7	breast:
4	chr3:101954078..101955171-chr3:102248014..102249330,9	MCF-7	breast:
5	chr3:101954335..101955564-chr3:102255069..102255925,6	MCF-7	breast:
6	chr3:102185034..102185962-chr3:102248252..102249000,2	MCF-7	breast:
7	chr3:101954246..101955257-chr3:102255026..102256618,7	MCF-7	breast:
8	chr3:102189787..102190495-chr3:102248139..102248658,2	MCF-7	breast:
9	chr3:102239730..102242491-chr3:102243042..102245931,2	MCF-7	breast:
10	chr3:102189575..102190499-chr3:102248099..102248934,2	MCF-7	breast:
11	chr3:101947609..101948580-chr3:102255071..102256044,5	MCF-7	breast:
12	chr3:101947615..101948697-chr3:102248082..102248977,5	MCF-7	breast:
13	chr3:102239730..102242491-chr3:102243042..102245931,2	MCF-7	breast:

No data

Extended variants
information (count: 1275 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1275 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1151314	chr3:102219217-102219218	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545547137	chr3:102219228-102219229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547523859	chr3:102219240-102219241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72942897	chr3:102219241-102219242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149296055	chr3:102219242-102219243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546614603	chr3:102219255-102219256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34204172	chr3:102219256-102219257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186989457	chr3:102219260-102219261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376631237	chr3:102219287-102219288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551304119	chr3:102219310-102219311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569437439	chr3:102219411-102219412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540043737	chr3:102219413-102219414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551559065	chr3:102219423-102219424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144561861	chr3:102219462-102219463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556172734	chr3:102219526-102219527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555391209	chr3:102219528-102219529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573702860	chr3:102219532-102219533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368498023	chr3:102219533-102219534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148055716	chr3:102219558-102219559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191782311	chr3:102219563-102219564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575318690	chr3:102219624-102219625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546007869	chr3:102219651-102219652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78355559	chr3:102219676-102219677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551307501	chr3:102219709-102219710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183592948	chr3:102219723-102219724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143694428	chr3:102219726-102219727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1151315	chr3:102219740-102219741	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528910746	chr3:102219761-102219762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112503432	chr3:102219772-102219773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563201216	chr3:102219784-102219785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187105168	chr3:102219790-102219791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7633434	chr3:102220220-102220221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs537670034	chr3:102220243-102220244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577718562	chr3:102220291-102220292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369125665	chr3:102220299-102220300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11922291	chr3:102220310-102220311	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561786533	chr3:102220321-102220322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144662489	chr3:102220325-102220326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs58680024	chr3:102220337-102220338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563028613	chr3:102220345-102220346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62272501	chr3:102220368-102220369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377215250	chr3:102220378-102220379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78553420	chr3:102222410-102222411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571317099	chr3:102222426-102222427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71627613	chr3:102222434-102222435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79422317	chr3:102222510-102222511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547104319	chr3:102222525-102222526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1151320	chr3:102222551-102222552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs150327234	chr3:102222652-102222653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185719952	chr3:102222690-102222691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102219200-102219800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:102219400-102219600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr3:102220200-102220400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:102222400-102224400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:102223800-102229600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:102224400-102224800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:102228600-102230400	Enhancers	Hela-S3	cervix
8	chr3:102229400-102230000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr3:102229400-102231600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:102229600-102229800	Enhancers	Fetal Lung	lung
11	chr3:102229600-102229800	Enhancers	NHEK	skin
12	chr3:102229600-102230000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:102229600-102230000	Enhancers	Fetal Kidney	kidney
14	chr3:102229600-102230000	Enhancers	NH-A	brain
15	chr3:102229600-102230800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:102229800-102230000	Flanking Active TSS	NHEK	skin
17	chr3:102229800-102231600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:102229800-102239200	Weak transcription	Fetal Lung	lung
19	chr3:102230000-102230200	Enhancers	NHEK	skin
20	chr3:102230000-102231400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:102230000-102231400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:102230200-102230400	Flanking Active TSS	NHEK	skin
23	chr3:102230400-102231000	Flanking Active TSS	Hela-S3	cervix
24	chr3:102230400-102231200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr3:102230400-102231800	Enhancers	NHEK	skin
26	chr3:102231000-102231400	Active TSS	Hela-S3	cervix
27	chr3:102231400-102231600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr3:102231400-102231600	Flanking Active TSS	Hela-S3	cervix
29	chr3:102231400-102232400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:102231600-102232400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:102231600-102234200	Enhancers	Hela-S3	cervix
32	chr3:102231800-102232200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:102231800-102232400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr3:102232200-102233000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr3:102233000-102233400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr3:102233400-102233600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr3:102233600-102237800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr3:102237800-102238400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr3:102238200-102238400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:102238400-102240000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr3:102239200-102241200	Enhancers	Fetal Lung	lung
42	chr3:102240000-102240200	Enhancers	Fetal Intestine Small	intestine
43	chr3:102240000-102240200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr3:102240000-102241200	Enhancers	Fetal Kidney	kidney
45	chr3:102240200-102240400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr3:102240400-102241000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr3:102240600-102240800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:102240600-102241400	Enhancers	Duodenum Mucosa	Duodenum
49	chr3:102240800-102241000	Enhancers	Fetal Intestine Small	intestine
50	chr3:102241000-102248000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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