Variant report

Variant	nsv591273
Chromosome Location	chr3:110087264-110194026
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:110148648..110150242-chr3:110157242..110158931,2	MCF-7	breast:
2	chr3:110127793..110130696-chr3:110131755..110134003,2	K562	blood:
3	chr3:110136396..110138262-chr4:117404422..117405927,2	MCF-7	breast:
4	chr3:110129196..110131425-chr3:110132503..110134599,2	K562	blood:
5	chr3:110102631..110105369-chr3:110107761..110109914,2	MCF-7	breast:
6	chr3:110108423..110110947-chr3:110115263..110116866,2	K562	blood:
7	chr3:110133663..110135868-chr3:110137549..110139998,2	K562	blood:
8	chr3:110127793..110130696-chr3:110131755..110134003,2	K562	blood:
9	chr3:110129196..110131425-chr3:110132503..110134599,2	K562	blood:
10	chr3:110175281..110177877-chr3:110179884..110181933,2	K562	blood:
11	chr3:110175281..110177877-chr3:110179884..110181933,2	K562	blood:
12	chr3:110148648..110150242-chr3:110157242..110158931,2	MCF-7	breast:
13	chr3:110101594..110103351-chr3:110109665..110111945,2	K562	blood:
14	chr3:110108423..110110947-chr3:110115263..110116866,2	K562	blood:
15	chr3:110181992..110184815-chr3:110198027..110199804,2	K562	blood:
16	chr3:110133663..110135868-chr3:110137549..110139998,2	K562	blood:
17	chr3:110102631..110105369-chr3:110107761..110109914,2	MCF-7	breast:
18	chr3:110101594..110103351-chr3:110109665..110111945,2	K562	blood:
19	chr3:110186109..110188840-chr3:110194422..110197001,2	K562	blood:

No data

Extended variants
information (count: 2468 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2468 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538694804	chr3:110094209-110094210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183679892	chr3:110094218-110094219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572070148	chr3:110094234-110094235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534809566	chr3:110094235-110094236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370801107	chr3:110094238-110094239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189076119	chr3:110094242-110094243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369240453	chr3:110094244-110094245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140708394	chr3:110094263-110094264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192700006	chr3:110094270-110094271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184308325	chr3:110094305-110094306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547436902	chr3:110094318-110094319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577613532	chr3:110094352-110094353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546478480	chr3:110094413-110094414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559405533	chr3:110094414-110094415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187493948	chr3:110094434-110094435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528063776	chr3:110094511-110094512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77385061	chr3:110094550-110094551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561612587	chr3:110094562-110094563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557804744	chr3:110094601-110094602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530775084	chr3:110094612-110094613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550500247	chr3:110094635-110094636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145827543	chr3:110094637-110094638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533069386	chr3:110094690-110094691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573319892	chr3:110094704-110094705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546457690	chr3:110094750-110094751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565760494	chr3:110094796-110094797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138407428	chr3:110094844-110094845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540042243	chr3:110094896-110094897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534690922	chr3:110094942-110094943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555585309	chr3:110095028-110095029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568457149	chr3:110095038-110095039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537504373	chr3:110095040-110095041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557595667	chr3:110095060-110095061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191553455	chr3:110095062-110095063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535801488	chr3:110095092-110095093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35268523	chr3:110095125-110095126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573809290	chr3:110095232-110095233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184032456	chr3:110095283-110095284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189004091	chr3:110095286-110095287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544507274	chr3:110095307-110095308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572909842	chr3:110095333-110095334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541452322	chr3:110095388-110095389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561870300	chr3:110095402-110095403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530525274	chr3:110095473-110095474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544257182	chr3:110095532-110095533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9756395	chr3:110095548-110095549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141679077	chr3:110095573-110095574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13326350	chr3:110095577-110095578	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs546357817	chr3:110095594-110095595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180902241	chr3:110095603-110095604	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Rett syndrome	21593744	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110094200-110094800	Enhancers	Ovary	ovary
2	chr3:110094200-110095200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr3:110094200-110095600	Enhancers	Fetal Lung	lung
4	chr3:110094400-110095200	Enhancers	Fetal Intestine Large	intestine
5	chr3:110094800-110095200	Enhancers	Rectal Smooth Muscle	rectum
6	chr3:110095000-110095400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr3:110095000-110095400	Enhancers	HepG2	liver
8	chr3:110095400-110095800	Enhancers	Fetal Intestine Small	intestine
9	chr3:110097200-110097800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:110097400-110097600	Enhancers	NHDF-Ad	bronchial
11	chr3:110097400-110098000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:110097600-110097800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:110097800-110101000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:110098000-110101000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:110100400-110100600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:110100600-110101200	Enhancers	Hela-S3	cervix
17	chr3:110100600-110101400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:110100600-110101600	Enhancers	Liver	Liver
19	chr3:110100600-110103800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:110100600-110103800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:110100800-110101000	Weak transcription	NHDF-Ad	bronchial
22	chr3:110101000-110101200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:110101000-110101200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:110101000-110101200	Enhancers	NHDF-Ad	bronchial
25	chr3:110101000-110101400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:110101000-110101400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:110101200-110102600	Weak transcription	Hela-S3	cervix
28	chr3:110101200-110102600	Weak transcription	NHDF-Ad	bronchial
29	chr3:110101400-110102400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:110101400-110103000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:110101400-110110600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:110102400-110104600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:110102400-110104600	Enhancers	Osteobl	bone
34	chr3:110102600-110102800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:110102600-110103600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr3:110102600-110103600	Enhancers	NHDF-Ad	bronchial
37	chr3:110102600-110105400	Enhancers	Hela-S3	cervix
38	chr3:110102800-110103400	Enhancers	HSMM	muscle
39	chr3:110102800-110104400	Enhancers	A549	lung
40	chr3:110103000-110103400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr3:110103000-110103800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:110103000-110104200	Enhancers	NHLF	lung
43	chr3:110103000-110105200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr3:110103800-110110000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:110105200-110110800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr3:110105600-110106000	Weak transcription	Hela-S3	cervix
47	chr3:110106000-110109800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr3:110107800-110108400	Enhancers	Dnd41	blood
49	chr3:110108600-110111200	Enhancers	HUVEC	blood vessel
50	chr3:110108800-110111400	Enhancers	HUES64 Cell Line	embryonic stem cell

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