Variant report

Variant	nsv1037719
Chromosome Location	chr14:37498841-37546359
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37543104..37544844-chr14:37552130..37554512,2	MCF-7	breast:
2	chr14:37411652..37413449-chr14:37500515..37502864,2	K562	blood:
3	chr14:37499430..37501111-chr14:37506004..37508252,2	K562	blood:
4	chr14:37517069..37519596-chr14:37522769..37524947,2	K562	blood:
5	chr14:37498607..37500171-chr14:37503819..37505728,2	MCF-7	breast:
6	chr14:37513736..37515871-chr14:37516258..37519151,2	K562	blood:
7	chr14:37508396..37513083-chr14:37513414..37517203,5	MCF-7	breast:
8	chr14:37500537..37502726-chr14:37509815..37512443,2	K562	blood:
9	chr14:37538918..37541164-chr14:37542653..37544836,2	K562	blood:
10	chr14:37508396..37513083-chr14:37513414..37517203,5	MCF-7	breast:
11	chr14:37415215..37416720-chr14:37538798..37540996,2	K562	blood:
12	chr14:37500537..37502726-chr14:37509815..37512443,2	K562	blood:
13	chr14:37499430..37501111-chr14:37506004..37508252,2	K562	blood:
14	chr14:37535319..37537304-chr14:37555545..37557530,2	K562	blood:
15	chr14:37542425..37544923-chr14:37546553..37548254,2	K562	blood:
16	chr14:37498607..37500171-chr14:37503819..37505728,2	MCF-7	breast:
17	chr14:37538918..37541164-chr14:37542653..37544836,2	K562	blood:
18	chr14:37517069..37519596-chr14:37522769..37524947,2	K562	blood:
19	chr14:37528200..37530680-chr14:37600178..37602513,2	K562	blood:
20	chr14:37527584..37529968-chr14:37590390..37592949,2	MCF-7	breast:
21	chr14:37513736..37515871-chr14:37516258..37519151,2	K562	blood:

No data

Extended variants
information (count: 1684 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1684 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8011174	chr14:37498841-37498842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527973389	chr14:37498857-37498858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs8010125	chr14:37498899-37498900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190645110	chr14:37498901-37498902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374111680	chr14:37498964-37498965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571479131	chr14:37498984-37498985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57538608	chr14:37498986-37498987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531082794	chr14:37499004-37499005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180715456	chr14:37499054-37499055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372080280	chr14:37499102-37499103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570035954	chr14:37499173-37499174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566973402	chr14:37499185-37499186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532374789	chr14:37499234-37499235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185275881	chr14:37499245-37499246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140012491	chr14:37499247-37499248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190021240	chr14:37499270-37499271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553599299	chr14:37499293-37499294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57432181	chr14:37499306-37499307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2057271	chr14:37499325-37499326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs555955585	chr14:37499329-37499330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76451057	chr14:37499331-37499332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544713056	chr14:37499378-37499379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182585842	chr14:37499412-37499413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572821912	chr14:37499446-37499447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541735502	chr14:37499458-37499459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561477501	chr14:37499538-37499539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530272207	chr14:37499559-37499560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543919015	chr14:37499584-37499585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563596888	chr14:37499649-37499650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75891192	chr14:37499655-37499656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116916930	chr14:37499684-37499685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532626094	chr14:37499685-37499686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17767595	chr14:37499712-37499713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs565735620	chr14:37499737-37499738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527588483	chr14:37499790-37499791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547240926	chr14:37499800-37499801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185826291	chr14:37499816-37499817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536021830	chr14:37499825-37499826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556306984	chr14:37499830-37499831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569677767	chr14:37499877-37499878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549359424	chr14:37499885-37499886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530122864	chr14:37499902-37499903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1950816	chr14:37499904-37499905	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs572030898	chr14:37499925-37499926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538635472	chr14:37499940-37499941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376978719	chr14:37499968-37499969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541750028	chr14:37499970-37499971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555273652	chr14:37500023-37500024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575102120	chr14:37500038-37500039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543692242	chr14:37500094-37500095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Lung cancer	20031968	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Cancer	20164919	CNVD

Chromatin state (count:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37494800-37503400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:37499800-37500400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr14:37500000-37500400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:37500200-37500400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:37500400-37505200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:37500400-37505200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr14:37503400-37504600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr14:37503600-37504000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:37503600-37504000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:37503600-37504000	Enhancers	Fetal Muscle Trunk	muscle
11	chr14:37503600-37505000	Enhancers	Aorta	Aorta
12	chr14:37503600-37506200	Enhancers	HSMMtube	muscle
13	chr14:37503600-37506200	Enhancers	NH-A	brain
14	chr14:37503600-37506400	Enhancers	Osteobl	bone
15	chr14:37503600-37507000	Enhancers	HUVEC	blood vessel
16	chr14:37503800-37504200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr14:37503800-37504600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:37503800-37504600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:37503800-37505000	Enhancers	Fetal Muscle Leg	muscle
20	chr14:37503800-37505800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:37503800-37506400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:37503800-37506400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:37503800-37506400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:37503800-37506600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr14:37503800-37506600	Enhancers	HSMM	muscle
26	chr14:37503800-37507400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:37503800-37507600	Enhancers	NHDF-Ad	bronchial
28	chr14:37504000-37504200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:37504000-37504200	Enhancers	Left Ventricle	heart
30	chr14:37504000-37504200	Enhancers	Psoas Muscle	Psoas
31	chr14:37504000-37504600	Enhancers	Fetal Heart	heart
32	chr14:37504000-37507600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr14:37504200-37504400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:37504200-37504600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:37504200-37505400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr14:37504400-37506000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:37504400-37506200	Enhancers	NHEK	skin
38	chr14:37504600-37504800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:37504600-37505000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:37504600-37505000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr14:37504600-37505000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:37504600-37505000	Enhancers	K562	blood
43	chr14:37504600-37505600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:37504600-37508200	Enhancers	HepG2	liver
45	chr14:37504800-37505000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr14:37504800-37505000	Enhancers	Left Ventricle	heart
47	chr14:37504800-37505000	Enhancers	Psoas Muscle	Psoas
48	chr14:37504800-37505000	Enhancers	Hela-S3	cervix
49	chr14:37504800-37506200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:37504800-37507400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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