Variant report

Variant	nsv564972
Chromosome Location	chr14:70013328-70022351
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

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

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

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

No data

Variant related genes	Relation type
ENSG00000244237	chromatin interactions
ENSG00000100650	chromatin interactions

Extended variants
information (count: 355 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7141009	chr14:70013328-70013329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370067738	chr14:70013411-70013412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77822469	chr14:70013417-70013418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117965598	chr14:70013424-70013425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35686868	chr14:70013426-70013427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142546069	chr14:70013432-70013433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113978122	chr14:70013485-70013486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145990022	chr14:70013495-70013496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76062929	chr14:70013520-70013521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546531286	chr14:70013527-70013528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571352608	chr14:70013535-70013536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138694858	chr14:70013552-70013553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556767603	chr14:70013567-70013568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568951915	chr14:70013611-70013612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77486225	chr14:70013650-70013651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554612104	chr14:70013652-70013653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199705791	chr14:70013677-70013678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386778559	chr14:70013678-70013679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184420087	chr14:70013681-70013682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189204517	chr14:70013682-70013683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572913829	chr14:70013726-70013727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141802551	chr14:70013727-70013728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559318651	chr14:70013759-70013760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74735903	chr14:70013825-70013826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181907242	chr14:70013849-70013850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562812397	chr14:70013856-70013857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184903257	chr14:70013900-70013901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541781436	chr14:70013918-70013919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560105189	chr14:70013955-70013956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144618948	chr14:70014016-70014017	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs546469834	chr14:70014109-70014110	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs148505590	chr14:70014124-70014125	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs533804901	chr14:70014129-70014130	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs550776233	chr14:70014130-70014131	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs114737548	chr14:70014169-70014170	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs536340190	chr14:70014175-70014176	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs189904425	chr14:70014193-70014194	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566452431	chr14:70014195-70014196	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs142842313	chr14:70014196-70014197	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs371635433	chr14:70014201-70014202	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs150635137	chr14:70014205-70014206	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs181291280	chr14:70014210-70014211	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs561705454	chr14:70014226-70014227	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs186497224	chr14:70014251-70014252	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs374616685	chr14:70014259-70014260	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs367734370	chr14:70014288-70014289	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs549148297	chr14:70014305-70014306	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs551605443	chr14:70014307-70014308	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs541918427	chr14:70014322-70014323	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs560241689	chr14:70014352-70014353	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70002400-70014600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:70007000-70014400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:70010200-70014000	Weak transcription	Fetal Brain Male	brain
4	chr14:70010600-70014400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:70011200-70014200	Weak transcription	Brain Germinal Matrix	brain
6	chr14:70011400-70014000	Weak transcription	Fetal Brain Female	brain
7	chr14:70011400-70014600	Weak transcription	HMEC	breast
8	chr14:70014000-70014200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr14:70014000-70015000	Enhancers	Fetal Brain Male	brain
10	chr14:70014000-70015400	Active TSS	Fetal Brain Female	brain
11	chr14:70014200-70014400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:70014200-70015000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr14:70014200-70015200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr14:70014200-70015200	Active TSS	Brain Germinal Matrix	brain
15	chr14:70014400-70014600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr14:70014400-70014600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:70014400-70014600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:70014400-70014600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:70014400-70014600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:70014400-70014600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:70014400-70014600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
22	chr14:70014400-70014600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
23	chr14:70014400-70014600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr14:70014400-70014600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
25	chr14:70014400-70014600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr14:70014400-70014600	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr14:70014400-70014600	Bivalent/Poised TSS	Fetal Stomach	stomach
28	chr14:70014400-70014600	Enhancers	Ovary	ovary
29	chr14:70014400-70014600	Enhancers	Right Atrium	heart
30	chr14:70014400-70014600	Bivalent/Poised TSS	Right Ventricle	heart
31	chr14:70014400-70014800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:70014400-70014800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr14:70014400-70014800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr14:70014400-70014800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:70014400-70014800	Active TSS	Brain Angular Gyrus	brain
36	chr14:70014400-70014800	Active TSS	Brain Anterior Caudate	brain
37	chr14:70014400-70014800	Bivalent Enhancer	Fetal Lung	lung
38	chr14:70014400-70014800	Bivalent Enhancer	Fetal Thymus	thymus
39	chr14:70014400-70014800	Bivalent Enhancer	Psoas Muscle	Psoas
40	chr14:70014400-70015000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr14:70014400-70015000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr14:70014400-70015000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:70014400-70015000	Active TSS	H9 Cell Line	embryonic stem cell
44	chr14:70014400-70015000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:70014400-70015000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr14:70014400-70015000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr14:70014400-70015000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:70014400-70015000	Enhancers	Primary hematopoietic stem cells	blood
49	chr14:70014400-70015000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:70014400-70015000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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