Variant report

Variant	nsv983782
Chromosome Location	chr14:70434042-70435841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70432306..70435336-chr14:70437963..70441360,3	MCF-7	breast:
2	chr14:70431486..70434460-chr14:70434887..70437389,2	K562	blood:
3	chr14:70431486..70434460-chr14:70434887..70437389,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550924649	chr14:70434050-70434051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187721696	chr14:70434106-70434107	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568124896	chr14:70434148-70434149	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575982539	chr14:70434182-70434183	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535412532	chr14:70434190-70434191	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144695859	chr14:70434200-70434201	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201391270	chr14:70434272-70434273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201462952	chr14:70434278-70434279	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376646345	chr14:70434356-70434357	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533830388	chr14:70434380-70434381	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368756168	chr14:70434405-70434406	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192491410	chr14:70434431-70434432	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184873829	chr14:70434447-70434448	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147906824	chr14:70434497-70434498	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556252991	chr14:70434509-70434510	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569568731	chr14:70434520-70434521	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189707713	chr14:70434537-70434538	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10142893	chr14:70434599-70434600	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs193083564	chr14:70434605-70434606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371510475	chr14:70434625-70434626	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140065547	chr14:70434641-70434642	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11848845	chr14:70434659-70434660	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs145582257	chr14:70434667-70434668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34858334	chr14:70434730-70434731	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10142998	chr14:70434755-70434756	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs147744078	chr14:70434797-70434798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141119203	chr14:70434800-70434801	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529265587	chr14:70434836-70434837	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534852151	chr14:70434838-70434839	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112532570	chr14:70434861-70434862	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565715134	chr14:70434868-70434869	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534143705	chr14:70434882-70434883	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558562379	chr14:70434962-70434963	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570634625	chr14:70434963-70434964	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537595319	chr14:70434984-70434985	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76303786	chr14:70434987-70434988	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112982180	chr14:70435009-70435010	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184229242	chr14:70435081-70435082	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs578109102	chr14:70435096-70435097	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553852452	chr14:70435106-70435107	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75502095	chr14:70435138-70435139	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189029870	chr14:70435148-70435149	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35069740	chr14:70435203-70435204	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538805029	chr14:70435278-70435279	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543794449	chr14:70435294-70435295	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150273320	chr14:70435341-70435342	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543577099	chr14:70435365-70435366	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368674015	chr14:70435379-70435380	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561929960	chr14:70435410-70435411	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529375869	chr14:70435415-70435416	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
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
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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70414800-70437400	Strong transcription	Hela-S3	cervix
2	chr14:70415400-70434400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:70415800-70444600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:70418800-70448600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:70423000-70434600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:70425800-70439000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:70427000-70435000	Weak transcription	Fetal Brain Female	brain
8	chr14:70429200-70435400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70429800-70434800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:70429800-70450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:70430400-70447000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:70430800-70434400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70430800-70439000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:70431600-70439200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:70431800-70438400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:70431800-70439400	Weak transcription	HMEC	breast
17	chr14:70432200-70435000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:70433000-70434800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:70433200-70436200	Enhancers	Fetal Brain Male	brain
20	chr14:70433200-70454000	Strong transcription	Liver	Liver
21	chr14:70433400-70434200	Enhancers	Brain Substantia Nigra	brain
22	chr14:70433600-70445800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:70433800-70434600	Strong transcription	HepG2	liver
24	chr14:70433800-70434800	Weak transcription	Fetal Stomach	stomach
25	chr14:70434000-70434200	Enhancers	Brain Anterior Caudate	brain
26	chr14:70434000-70438800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr14:70434000-70439000	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:70434200-70438600	Weak transcription	Brain Substantia Nigra	brain
29	chr14:70434400-70435000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:70434400-70436400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:70434600-70435800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:70434600-70438400	Weak transcription	HepG2	liver
33	chr14:70434800-70435200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:70434800-70435400	Enhancers	Fetal Stomach	stomach
35	chr14:70434800-70436400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:70435000-70435200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:70435000-70435200	Enhancers	Fetal Brain Female	brain
38	chr14:70435000-70435200	Enhancers	Fetal Muscle Leg	muscle
39	chr14:70435000-70435400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr14:70435000-70435400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr14:70435200-70435400	Enhancers	Brain Germinal Matrix	brain
42	chr14:70435200-70435600	Weak transcription	Fetal Brain Female	brain
43	chr14:70435200-70435800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:70435200-70438200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:70435400-70436400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:70435400-70440200	Weak transcription	Brain Germinal Matrix	brain
47	chr14:70435400-70443800	Weak transcription	Fetal Stomach	stomach
48	chr14:70435400-70447000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:70435600-70435800	Enhancers	Fetal Brain Female	brain
50	chr14:70435800-70438800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links