Variant report

Variant	nsv460819
Chromosome Location	chr3:110080893-110194026
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:110102631..110105369-chr3:110107761..110109914,2	MCF-7	breast:
2	chr3:110101594..110103351-chr3:110109665..110111945,2	K562	blood:
3	chr3:110148648..110150242-chr3:110157242..110158931,2	MCF-7	breast:
4	chr3:110108423..110110947-chr3:110115263..110116866,2	K562	blood:
5	chr3:110101594..110103351-chr3:110109665..110111945,2	K562	blood:
6	chr3:110127793..110130696-chr3:110131755..110134003,2	K562	blood:
7	chr3:110148648..110150242-chr3:110157242..110158931,2	MCF-7	breast:
8	chr3:110181992..110184815-chr3:110198027..110199804,2	K562	blood:
9	chr3:110127793..110130696-chr3:110131755..110134003,2	K562	blood:
10	chr3:110175281..110177877-chr3:110179884..110181933,2	K562	blood:
11	chr3:110133663..110135868-chr3:110137549..110139998,2	K562	blood:
12	chr3:110186109..110188840-chr3:110194422..110197001,2	K562	blood:
13	chr3:110133663..110135868-chr3:110137549..110139998,2	K562	blood:
14	chr3:110136396..110138262-chr4:117404422..117405927,2	MCF-7	breast:
15	chr3:110102631..110105369-chr3:110107761..110109914,2	MCF-7	breast:
16	chr3:110129196..110131425-chr3:110132503..110134599,2	K562	blood:
17	chr3:110175281..110177877-chr3:110179884..110181933,2	K562	blood:
18	chr3:110108423..110110947-chr3:110115263..110116866,2	K562	blood:
19	chr3:110064640..110067348-chr3:110084597..110086905,2	MCF-7	breast:
20	chr3:110129196..110131425-chr3:110132503..110134599,2	K562	blood:

No data

Extended variants
information (count: 2599 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2599 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9818820	chr3:110080893-110080894	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373759501	chr3:110080907-110080908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374756338	chr3:110080936-110080937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77817596	chr3:110080961-110080962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541394779	chr3:110080993-110080994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374760944	chr3:110081010-110081011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192167399	chr3:110081030-110081031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530126966	chr3:110081060-110081061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549815099	chr3:110081128-110081129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563548264	chr3:110081136-110081137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73854012	chr3:110081173-110081174	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs201835235	chr3:110081193-110081194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28702628	chr3:110081221-110081222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4352392	chr3:110081245-110081246	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs4376065	chr3:110081414-110081415	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs76664539	chr3:110081424-110081425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112412220	chr3:110081500-110081501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548197090	chr3:110081517-110081518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544220616	chr3:110081540-110081541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183116557	chr3:110081548-110081549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537148766	chr3:110081569-110081570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557055448	chr3:110081582-110081583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372508409	chr3:110081600-110081601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539594555	chr3:110081601-110081602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553021344	chr3:110081647-110081648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573077358	chr3:110081688-110081689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541107772	chr3:110081728-110081729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554541800	chr3:110081733-110081734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529879376	chr3:110081770-110081771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188004449	chr3:110081793-110081794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2399341	chr3:110081819-110081820	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563413514	chr3:110081867-110081868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532624763	chr3:110081897-110081898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35968545	chr3:110081920-110081921	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs559834460	chr3:110081922-110081923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528777165	chr3:110081939-110081940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369586641	chr3:110081967-110081968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373213733	chr3:110081998-110081999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35423063	chr3:110082029-110082030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143535624	chr3:110082052-110082053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568074523	chr3:110082053-110082054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530486082	chr3:110082115-110082116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148117533	chr3:110082137-110082138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115491059	chr3:110082221-110082222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs59220897	chr3:110082286-110082287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570505502	chr3:110082293-110082294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112685456	chr3:110082326-110082327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560416409	chr3:110082339-110082340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539289572	chr3:110082355-110082356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553124602	chr3:110082367-110082368	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:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110080400-110082400	Enhancers	NHDF-Ad	bronchial
2	chr3:110080600-110082600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:110081400-110081800	Enhancers	Osteobl	bone
4	chr3:110081400-110082400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:110081600-110082200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:110083000-110083200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr3:110083800-110084000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr3:110085800-110086800	Enhancers	K562	blood
9	chr3:110085800-110087200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:110094200-110094800	Enhancers	Ovary	ovary
11	chr3:110094200-110095200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr3:110094200-110095600	Enhancers	Fetal Lung	lung
13	chr3:110094400-110095200	Enhancers	Fetal Intestine Large	intestine
14	chr3:110094800-110095200	Enhancers	Rectal Smooth Muscle	rectum
15	chr3:110095000-110095400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr3:110095000-110095400	Enhancers	HepG2	liver
17	chr3:110095400-110095800	Enhancers	Fetal Intestine Small	intestine
18	chr3:110097200-110097800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:110097400-110097600	Enhancers	NHDF-Ad	bronchial
20	chr3:110097400-110098000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:110097600-110097800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:110097800-110101000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:110098000-110101000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:110100400-110100600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:110100600-110101200	Enhancers	Hela-S3	cervix
26	chr3:110100600-110101400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:110100600-110101600	Enhancers	Liver	Liver
28	chr3:110100600-110103800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:110100600-110103800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:110100800-110101000	Weak transcription	NHDF-Ad	bronchial
31	chr3:110101000-110101200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:110101000-110101200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr3:110101000-110101200	Enhancers	NHDF-Ad	bronchial
34	chr3:110101000-110101400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:110101000-110101400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:110101200-110102600	Weak transcription	Hela-S3	cervix
37	chr3:110101200-110102600	Weak transcription	NHDF-Ad	bronchial
38	chr3:110101400-110102400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:110101400-110103000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:110101400-110110600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:110102400-110104600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:110102400-110104600	Enhancers	Osteobl	bone
43	chr3:110102600-110102800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:110102600-110103600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr3:110102600-110103600	Enhancers	NHDF-Ad	bronchial
46	chr3:110102600-110105400	Enhancers	Hela-S3	cervix
47	chr3:110102800-110103400	Enhancers	HSMM	muscle
48	chr3:110102800-110104400	Enhancers	A549	lung
49	chr3:110103000-110103400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr3:110103000-110103800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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