Variant report

Variant	nsv976350
Chromosome Location	chr14:68713564-68714267
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68710270..68718985-chr14:68771545..68777065,19	MCF-7	breast:
2	chr14:68549897..68552411-chr14:68713293..68716629,3	MCF-7	breast:
3	chr14:68711091..68724838-chr14:69248065..69264571,70	MCF-7	breast:
4	chr14:68713244..68715360-chr14:69094064..69096283,2	MCF-7	breast:
5	chr14:68712152..68714666-chr14:68861670..68863441,2	MCF-7	breast:
6	chr14:68713706..68716273-chr14:69277811..69279687,2	MCF-7	breast:
7	chr14:68631809..68634739-chr14:68711873..68715827,4	MCF-7	breast:
8	chr14:68673468..68675267-chr14:68712695..68715486,2	MCF-7	breast:
9	chr14:68409323..68412497-chr14:68713379..68716018,3	MCF-7	breast:
10	chr14:68633516..68636116-chr14:68713007..68714934,3	MCF-7	breast:
11	chr14:68713914..68715966-chr14:69283266..69284939,2	MCF-7	breast:
12	chr14:68712652..68716237-chr14:68722010..68723872,3	MCF-7	breast:
13	chr14:68647380..68649631-chr14:68713647..68715279,2	MCF-7	breast:
14	chr14:68656043..68661099-chr14:68710391..68716081,7	MCF-7	breast:
15	chr14:68606859..68608701-chr14:68712605..68715060,2	MCF-7	breast:
16	chr14:68712832..68721681-chr14:69280637..69286048,12	MCF-7	breast:
17	chr14:68655074..68665772-chr14:68705598..68717948,30	MCF-7	breast:
18	chr14:68713315..68714834-chr14:68935633..68937322,2	MCF-7	breast:
19	chr14:68708487..68726231-chr14:69250578..69263645,103	MCF-7	breast:
20	chr14:68406488..68409167-chr14:68711132..68714083,3	MCF-7	breast:
21	chr14:68711627..68715466-chr14:69257359..69259390,3	K562	blood:
22	chr14:68407127..68413734-chr14:68709753..68718255,16	MCF-7	breast:
23	chr14:68604504..68610375-chr14:68709920..68717829,10	MCF-7	breast:
24	chr14:68711443..68714293-chr14:68715594..68717440,2	MCF-7	breast:
25	chr14:68713328..68715932-chr14:68978216..68981551,3	MCF-7	breast:
26	chr14:68714111..68716167-chr14:68924259..68925879,2	MCF-7	breast:
27	chr14:68713812..68718253-chr14:68930214..68933178,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259038	chromatin interactions
ENSG00000185650	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371583613	chr14:68713568-68713569	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs532529020	chr14:68713576-68713577	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs138109385	chr14:68713578-68713579	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs374484954	chr14:68713584-68713585	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs574592427	chr14:68713607-68713608	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs149561924	chr14:68713622-68713623	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs144249061	chr14:68713623-68713624	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs567210619	chr14:68713636-68713637	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs531617080	chr14:68713659-68713660	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7146865	chr14:68713684-68713685	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148739568	chr14:68713716-68713717	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs7145443	chr14:68713742-68713743	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556990083	chr14:68713748-68713749	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs142358625	chr14:68713814-68713815	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs187205352	chr14:68713851-68713852	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs554136905	chr14:68713882-68713883	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572850763	chr14:68713883-68713884	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs147501753	chr14:68713929-68713930	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs140085069	chr14:68713972-68713973	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs559876041	chr14:68713975-68713976	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs532910319	chr14:68713976-68713977	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs576939191	chr14:68713986-68713987	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs527584675	chr14:68714027-68714028	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs191996349	chr14:68714038-68714039	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs182557026	chr14:68714054-68714055	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574975105	chr14:68714095-68714096	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs542289104	chr14:68714107-68714108	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs58116687	chr14:68714136-68714137	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs528026401	chr14:68714193-68714194	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs552802076	chr14:68714217-68714218	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68697600-68714400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:68703000-68714000	Enhancers	Fetal Muscle Leg	muscle
3	chr14:68703000-68718800	Enhancers	Fetal Intestine Large	intestine
4	chr14:68703200-68718800	Enhancers	Fetal Intestine Small	intestine
5	chr14:68704400-68714400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:68707200-68724000	Enhancers	Fetal Lung	lung
7	chr14:68707400-68715800	Enhancers	Duodenum Mucosa	Duodenum
8	chr14:68707600-68720400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:68707800-68717800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr14:68707800-68718000	Enhancers	Stomach Mucosa	stomach
11	chr14:68708200-68715400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr14:68708400-68715400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr14:68709000-68715400	Weak transcription	Esophagus	oesophagus
14	chr14:68709600-68717800	Enhancers	Adipose Nuclei	Adipose
15	chr14:68710000-68718800	Enhancers	Rectal Smooth Muscle	rectum
16	chr14:68710200-68713600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr14:68710200-68713600	Enhancers	Brain Germinal Matrix	brain
18	chr14:68710200-68713800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:68710200-68718600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr14:68710200-68718800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr14:68710200-68719000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:68710200-68719400	Enhancers	Fetal Heart	heart
23	chr14:68710400-68713800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:68710400-68713800	Enhancers	Small Intestine	intestine
25	chr14:68710400-68715000	Enhancers	K562	blood
26	chr14:68710400-68718600	Enhancers	Brain Hippocampus Middle	brain
27	chr14:68710400-68718600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr14:68710400-68718800	Enhancers	Fetal Stomach	stomach
29	chr14:68710800-68714000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr14:68710800-68717800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:68710800-68718600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:68710800-68719000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:68711000-68713800	Enhancers	Right Atrium	heart
34	chr14:68711000-68714000	Enhancers	Fetal Thymus	thymus
35	chr14:68711200-68713800	Enhancers	Psoas Muscle	Psoas
36	chr14:68711200-68718600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:68711400-68713600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr14:68711400-68715200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr14:68711400-68715400	Enhancers	Primary hematopoietic stem cells	blood
40	chr14:68711400-68715600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:68711400-68719200	Enhancers	Colon Smooth Muscle	Colon
42	chr14:68711600-68713800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:68711600-68714400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:68711600-68715000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr14:68711600-68715000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:68711600-68715600	Weak transcription	Gastric	stomach
47	chr14:68711800-68714600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:68712000-68714000	Enhancers	NHLF	lung
49	chr14:68712000-68717800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:68712200-68713600	Enhancers	Fetal Brain Female	brain

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