Variant report

Variant	nsv977622
Chromosome Location	chr14:68514820-68532469
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:0)
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	chr14:68519855..68522252-chr14:68526283..68527836,2	MCF-7	breast:
2	chr14:68510807..68512331-chr14:68520245..68522005,2	MCF-7	breast:
3	chr14:68519855..68522252-chr14:68526283..68527836,2	MCF-7	breast:
4	chr14:68526034..68528423-chr14:69258225..69260701,2	MCF-7	breast:
5	chr14:68532155..68533978-chr14:68540126..68542648,2	MCF-7	breast:
6	chr14:68524998..68527629-chr14:68533348..68536338,2	MCF-7	breast:
7	chr14:68532345..68534667-chr14:68601779..68604351,2	MCF-7	breast:
8	chr14:68531659..68534183-chr14:69260616..69263153,2	MCF-7	breast:
9	chr14:68511165..68513951-chr14:68514619..68517207,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	chromatin interactions

Extended variants
information (count: 590 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:590 , 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	rs543510132	chr14:68514849-68514850	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs11623984	chr14:68514873-68514874	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs528874901	chr14:68514878-68514879	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs540912026	chr14:68514904-68514905	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs559251189	chr14:68514920-68514921	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs532957273	chr14:68514923-68514924	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs551247131	chr14:68514981-68514982	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs569835099	chr14:68515003-68515004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530880403	chr14:68515008-68515009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193271994	chr14:68515067-68515068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368434172	chr14:68515105-68515106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573486441	chr14:68515117-68515118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567647831	chr14:68515125-68515126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540783346	chr14:68515194-68515195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535044401	chr14:68515226-68515227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370440824	chr14:68515252-68515253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565458811	chr14:68515301-68515302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112157989	chr14:68515360-68515361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7161069	chr14:68515380-68515381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs149110187	chr14:68515403-68515404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557229224	chr14:68515461-68515462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184146993	chr14:68515503-68515504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543119253	chr14:68515512-68515513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555474819	chr14:68515548-68515549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544711164	chr14:68515549-68515550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377678532	chr14:68515608-68515609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189478700	chr14:68515619-68515620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28474827	chr14:68515625-68515626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192513442	chr14:68515638-68515639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533011438	chr14:68515652-68515653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545309567	chr14:68515767-68515768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563303713	chr14:68515790-68515791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530765175	chr14:68515818-68515819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530562058	chr14:68515819-68515820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549185748	chr14:68515833-68515834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11848187	chr14:68515857-68515858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs28448732	chr14:68515862-68515863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs546978843	chr14:68515874-68515875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571674032	chr14:68515911-68515912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538937011	chr14:68515930-68515931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145673944	chr14:68515938-68515939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370442084	chr14:68515942-68515943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28470365	chr14:68515956-68515957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184143597	chr14:68515961-68515962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536878756	chr14:68516059-68516060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141920364	chr14:68516069-68516070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546355575	chr14:68516084-68516085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150666200	chr14:68516091-68516092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138909544	chr14:68516150-68516151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552523575	chr14:68516203-68516204	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68499800-68516200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:68503600-68519800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:68509000-68517200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:68510000-68516200	Weak transcription	Fetal Intestine Small	intestine
5	chr14:68511600-68518400	Weak transcription	Fetal Lung	lung
6	chr14:68514600-68515000	Enhancers	NH-A	brain
7	chr14:68514600-68518600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:68514800-68515000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:68514800-68515000	Active TSS	A549	lung
10	chr14:68514800-68518200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:68514800-68522600	Weak transcription	HSMM	muscle
12	chr14:68514800-68527000	Weak transcription	Ovary	ovary
13	chr14:68515600-68518000	Weak transcription	Primary B cells from cord blood	blood
14	chr14:68516200-68516400	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr14:68516200-68516600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr14:68516600-68517000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:68518000-68518400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:68518400-68518600	Enhancers	Fetal Lung	lung
19	chr14:68518600-68520400	Weak transcription	Fetal Lung	lung
20	chr14:68519800-68521600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:68525600-68526000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:68525800-68526200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr14:68526600-68527200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr14:68526600-68527200	Enhancers	Rectal Smooth Muscle	rectum
25	chr14:68526800-68527600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr14:68526800-68527800	Enhancers	Colon Smooth Muscle	Colon
27	chr14:68526800-68527800	Enhancers	Fetal Lung	lung
28	chr14:68527000-68527200	Enhancers	Ovary	ovary
29	chr14:68527200-68527600	Weak transcription	Ovary	ovary
30	chr14:68527600-68528200	Enhancers	Ovary	ovary
31	chr14:68527800-68530600	Weak transcription	Fetal Lung	lung
32	chr14:68527800-68532400	Weak transcription	Small Intestine	intestine
33	chr14:68528200-68531800	Weak transcription	Ovary	ovary
34	chr14:68530600-68532200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:68531400-68531800	Weak transcription	Esophagus	oesophagus
36	chr14:68531800-68532000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:68531800-68532000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:68531800-68532400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:68531800-68532400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:68531800-68532400	ZNF genes & repeats	Esophagus	oesophagus
41	chr14:68531800-68532400	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr14:68531800-68532400	Enhancers	Ovary	ovary
43	chr14:68531800-68532400	Enhancers	Pancreas	Pancrea
44	chr14:68532000-68532400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:68532000-68532400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:68532000-68532400	ZNF genes & repeats	Aorta	Aorta
47	chr14:68532000-68532400	ZNF genes & repeats	Gastric	stomach
48	chr14:68532000-68532400	Enhancers	Right Ventricle	heart
49	chr14:68532400-68536200	Weak transcription	Gastric	stomach
50	chr14:68532400-68544000	Weak transcription	Aorta	Aorta

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