Variant report

Variant	nsv976299
Chromosome Location	chr14:78072275-78074551
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:78071276..78074499-chr14:78074506..78077837,3	K562	blood:
2	chr14:78063987..78068208-chr14:78069326..78072935,4	MCF-7	breast:
3	chr14:78069363..78073512-chr14:78081398..78084592,5	MCF-7	breast:
4	chr14:78072993..78075148-chr14:78173100..78175797,2	K562	blood:
5	chr14:78072044..78075600-chr14:78081551..78084450,6	K562	blood:
6	chr14:78070489..78072668-chr14:78077080..78079522,2	MCF-7	breast:
7	chr14:78065290..78068119-chr14:78072066..78074474,3	K562	blood:
8	chr14:78072769..78075588-chr14:78081350..78084450,3	K562	blood:
9	chr14:78065290..78070188-chr14:78072894..78075904,4	K562	blood:
10	chr14:78071276..78074499-chr14:78074506..78077837,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119705	chromatin interactions
ENSG00000100601	chromatin interactions
ENSG00000100596	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145124813	chr14:78072278-78072279	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183905120	chr14:78072301-78072302	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189314479	chr14:78072323-78072324	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs115672824	chr14:78072360-78072361	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2267749	chr14:78072371-78072372	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148687408	chr14:78072378-78072379	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs111873738	chr14:78072407-78072408	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs180858381	chr14:78072412-78072413	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527297738	chr14:78072441-78072442	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540983918	chr14:78072448-78072449	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187411020	chr14:78072454-78072455	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146726420	chr14:78072455-78072456	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140318942	chr14:78072466-78072467	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568584833	chr14:78072546-78072547	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192110921	chr14:78072570-78072571	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529201291	chr14:78072626-78072627	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs181635995	chr14:78072628-78072629	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565605118	chr14:78072629-78072630	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533941775	chr14:78072662-78072663	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs142482716	chr14:78072679-78072680	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547340453	chr14:78072690-78072691	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs570661581	chr14:78072699-78072700	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140434192	chr14:78072716-78072717	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs67620244	chr14:78072717-78072718	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs60592490	chr14:78072746-78072747	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs59065946	chr14:78072747-78072748	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs539539511	chr14:78072790-78072791	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs75990858	chr14:78072793-78072794	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547999501	chr14:78072819-78072820	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs17106085	chr14:78072843-78072844	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs556031796	chr14:78072846-78072847	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145707094	chr14:78072850-78072851	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541073864	chr14:78072892-78072893	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34084166	chr14:78072928-78072929	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185967791	chr14:78072954-78072955	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs577845450	chr14:78072958-78072959	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529514355	chr14:78072993-78072994	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs563209909	chr14:78073025-78073026	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs529103462	chr14:78073067-78073068	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs548865326	chr14:78073068-78073069	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs529470837	chr14:78073089-78073090	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs547612454	chr14:78073101-78073102	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs374442165	chr14:78073122-78073123	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs190338549	chr14:78073147-78073148	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs566158312	chr14:78073160-78073161	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs146569296	chr14:78073170-78073171	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs539498933	chr14:78073171-78073172	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs113331631	chr14:78073201-78073202	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs377502264	chr14:78073203-78073204	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs370710540	chr14:78073212-78073213	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78051600-78072600	Weak transcription	Psoas Muscle	Psoas
2	chr14:78055000-78081600	Weak transcription	Right Ventricle	heart
3	chr14:78056600-78072800	Weak transcription	Placenta	Placenta
4	chr14:78057600-78081400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:78062800-78075000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:78063200-78077800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:78063400-78081600	Weak transcription	Fetal Stomach	stomach
8	chr14:78063800-78074000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:78063800-78074200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:78065600-78081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:78066000-78079600	Weak transcription	Dnd41	blood
12	chr14:78066600-78074200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:78066800-78078400	Weak transcription	NHLF	lung
14	chr14:78067000-78078200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:78067800-78075000	Enhancers	Stomach Mucosa	stomach
16	chr14:78068600-78073200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:78069000-78072800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:78069200-78081600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:78069600-78072800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr14:78069600-78072800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:78070000-78074200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:78070000-78075600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr14:78070200-78072400	Enhancers	A549	lung
24	chr14:78070200-78073400	Enhancers	Small Intestine	intestine
25	chr14:78070200-78074000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:78070200-78074400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:78070200-78081600	Weak transcription	Liver	Liver
28	chr14:78070400-78072400	Weak transcription	Pancreas	Pancrea
29	chr14:78070400-78074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:78070400-78074200	Enhancers	Primary hematopoietic stem cells	blood
31	chr14:78070400-78074200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:78070400-78075000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr14:78070400-78075800	Weak transcription	Lung	lung
34	chr14:78070400-78078200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:78070400-78078400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr14:78070400-78079800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:78070400-78081400	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:78070600-78072400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:78070600-78072400	Weak transcription	Gastric	stomach
40	chr14:78070600-78073600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:78070600-78074000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr14:78070600-78074200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:78070600-78074200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:78070600-78074200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:78070600-78074200	Weak transcription	Right Atrium	heart
46	chr14:78070600-78074400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:78070600-78076800	Weak transcription	HSMM	muscle
48	chr14:78070600-78077800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:78070600-78077800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:78070600-78078200	Weak transcription	NH-A	brain

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