Variant report

Variant	nsv564971
Chromosome Location	chr14:70007215-70022404
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69989183..69991893-chr14:70006349..70008257,2	MCF-7	breast:
2	chr14:70009624..70012138-chr14:70013181..70015316,2	K562	blood:
3	chr14:70017252..70019408-chr14:70020667..70022465,2	MCF-7	breast:
4	chr14:70009624..70012138-chr14:70013181..70015316,2	K562	blood:
5	chr14:70013357..70015397-chr14:70020516..70022458,2	K562	blood:
6	chr14:70017252..70019408-chr14:70020667..70022465,2	MCF-7	breast:
7	chr14:70013357..70015397-chr14:70020516..70022458,2	K562	blood:
8	chr14:70019966..70021611-chr14:70026583..70029344,2	K562	blood:
9	chr14:70014454..70015116-chr14:70193405..70194292,6	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf162-4	chr14:70014555-70014755	NONHSAT037529
2	lnc-C14orf162-4	chr14:70007326-70007396	NONHSAT037529

No data

Variant related genes	Relation type
ENSG00000244237	chromatin interactions
ENSG00000100650	chromatin interactions

Extended variants
information (count: 585 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:585 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12893635	chr14:70007215-70007216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113729258	chr14:70007291-70007292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565603923	chr14:70007314-70007315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532733538	chr14:70007424-70007425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139156755	chr14:70007427-70007428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562971435	chr14:70007438-70007439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144123549	chr14:70007486-70007487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185745273	chr14:70007523-70007524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566744821	chr14:70007704-70007705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186756967	chr14:70007783-70007784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146530619	chr14:70007822-70007823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191563332	chr14:70007823-70007824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140018348	chr14:70007853-70007854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571716786	chr14:70007857-70007858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563215160	chr14:70007890-70007891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377314246	chr14:70007914-70007915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575254556	chr14:70007954-70007955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532334468	chr14:70008002-70008003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554693632	chr14:70008063-70008064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572726738	chr14:70008069-70008070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143625167	chr14:70008075-70008076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565541909	chr14:70008083-70008084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554866172	chr14:70008109-70008110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564335731	chr14:70008130-70008131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376844714	chr14:70008183-70008184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111783062	chr14:70008189-70008190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145749419	chr14:70008229-70008230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544770286	chr14:70008243-70008244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562948329	chr14:70008282-70008283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530357771	chr14:70008297-70008298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548392145	chr14:70008323-70008324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540418133	chr14:70008324-70008325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560665477	chr14:70008338-70008339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527664477	chr14:70008357-70008358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148947428	chr14:70008363-70008364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4902728	chr14:70008372-70008373	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183871937	chr14:70008418-70008419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151078904	chr14:70008423-70008424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568950519	chr14:70008424-70008425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536473586	chr14:70008536-70008537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116374356	chr14:70008550-70008551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188539940	chr14:70008551-70008552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142547218	chr14:70008575-70008576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558589764	chr14:70008623-70008624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs58845258	chr14:70008710-70008711	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs568176259	chr14:70008718-70008719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181303886	chr14:70008737-70008738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146901434	chr14:70008754-70008755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574914789	chr14:70008822-70008823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115035586	chr14:70008838-70008839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70002400-70014600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:70004800-70010000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr14:70006200-70008200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr14:70007000-70007600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:70007000-70007600	Enhancers	Brain Anterior Caudate	brain
6	chr14:70007000-70007600	Enhancers	Placenta	Placenta
7	chr14:70007000-70008000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:70007000-70008000	Enhancers	Hela-S3	cervix
9	chr14:70007000-70008200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:70007000-70008200	Enhancers	Adipose Nuclei	Adipose
11	chr14:70007000-70008200	Enhancers	Liver	Liver
12	chr14:70007000-70008800	Enhancers	GM12878-XiMat	blood
13	chr14:70007000-70014400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:70007200-70007400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr14:70007200-70007600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:70007200-70008000	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr14:70007200-70009600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:70007400-70010000	Weak transcription	NHEK	skin
19	chr14:70007600-70007800	Enhancers	Osteobl	bone
20	chr14:70008000-70008200	Enhancers	Fetal Brain Male	brain
21	chr14:70008000-70009600	Weak transcription	Hela-S3	cervix
22	chr14:70008200-70009800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr14:70008200-70011200	Weak transcription	Adipose Nuclei	Adipose
24	chr14:70008600-70009000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:70008800-70010600	Weak transcription	Osteobl	bone
26	chr14:70009000-70010600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:70009400-70009800	Enhancers	Brain Angular Gyrus	brain
28	chr14:70009400-70011400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:70009400-70011400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:70009600-70010000	Enhancers	Esophagus	oesophagus
31	chr14:70009600-70011000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:70009600-70011400	Enhancers	Hela-S3	cervix
33	chr14:70009600-70011400	Enhancers	HMEC	breast
34	chr14:70009800-70010400	Enhancers	A549	lung
35	chr14:70009800-70011000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr14:70009800-70011200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:70009800-70011400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr14:70009800-70011600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:70010000-70011000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:70010000-70011000	Enhancers	NHEK	skin
41	chr14:70010000-70011400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:70010000-70011400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:70010000-70011400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:70010200-70010400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:70010200-70010400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:70010200-70010600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr14:70010200-70011000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr14:70010200-70011000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:70010200-70011200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
50	chr14:70010200-70011200	Enhancers	Cortex derived primary cultured neurospheres	brain

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