Variant report

Variant	nsv1037112
Chromosome Location	chr14:79412455-79527656
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:79477488..79478336-chr14:80679721..80680478,2	MCF-7	breast:
2	chr14:79477398..79478037-chr14:79822214..79823031,2	MCF-7	breast:
3	chr14:79425453..79426658-chr14:81316149..81316920,3	MCF-7	breast:
4	chr14:79477327..79478026-chr14:80503480..80504367,2	MCF-7	breast:
5	chr14:79400140..79400929-chr14:79435226..79435737,2	MCF-7	breast:
6	chr14:79431792..79432292-chr2:1115047..1115998,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADCK1-4	chr14:79482052-79482353	l_1017_chr14:79479846-79482353_testes
2	lnc-ADCK1-4	chr14:79479847-79480188	l_1017_chr14:79479846-79482353_testes

No data

Extended variants
information (count: 4201 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:4201 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573662328	chr14:79412837-79412838	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs561249705	chr14:79412869-79412870	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs548646709	chr14:79412884-79412885	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs541053463	chr14:79412892-79412893	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs61994057	chr14:79412933-79412934	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs559062286	chr14:79412941-79412942	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs138431104	chr14:79412990-79412991	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs552788643	chr14:79413027-79413028	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs570980520	chr14:79413078-79413079	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs74969028	chr14:79413090-79413091	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs546848625	chr14:79413124-79413125	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs111884251	chr14:79413135-79413136	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs550245038	chr14:79413146-79413147	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs570013484	chr14:79413155-79413156	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs539861465	chr14:79413238-79413239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182870139	chr14:79413278-79413279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186763997	chr14:79413299-79413300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566136330	chr14:79413307-79413308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79585689	chr14:79413312-79413313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191207755	chr14:79413332-79413333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577776776	chr14:79413366-79413367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35738727	chr14:79413400-79413401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543685583	chr14:79413405-79413406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557002640	chr14:79413443-79413444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544786361	chr14:79413453-79413454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573292833	chr14:79413458-79413459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542175710	chr14:79413483-79413484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558928033	chr14:79413486-79413487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563470044	chr14:79413505-79413506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376641338	chr14:79413513-79413514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528148438	chr14:79413526-79413527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544720899	chr14:79413533-79413534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143396178	chr14:79413566-79413567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533392362	chr14:79413579-79413580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550449616	chr14:79413586-79413587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570290471	chr14:79413600-79413601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77807490	chr14:79413671-79413672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148298621	chr14:79413677-79413678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566099545	chr14:79413692-79413693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575113015	chr14:79413712-79413713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558004581	chr14:79413766-79413767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184836533	chr14:79413829-79413830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73325328	chr14:79413847-79413848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34091077	chr14:79413877-79413878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557129393	chr14:79413883-79413884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73325331	chr14:79413892-79413893	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs187742973	chr14:79413905-79413906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542499816	chr14:79413926-79413927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141437503	chr14:79413937-79413938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545068344	chr14:79413957-79413958	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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Cancer	17440070	CNVD

Chromatin state (count:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79412800-79413000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:79413000-79413200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:79413000-79414400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:79413200-79414600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:79414600-79414800	Enhancers	Fetal Intestine Large	intestine
6	chr14:79414600-79415800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:79414800-79416200	Weak transcription	Fetal Intestine Large	intestine
8	chr14:79415200-79415400	Enhancers	Fetal Intestine Small	intestine
9	chr14:79415400-79416600	Weak transcription	Fetal Intestine Small	intestine
10	chr14:79415800-79416600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:79416200-79417800	Enhancers	Fetal Intestine Large	intestine
12	chr14:79416400-79417800	Enhancers	HUVEC	blood vessel
13	chr14:79416600-79416800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr14:79416600-79416800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:79416600-79417000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:79416600-79417400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:79416600-79417400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:79416600-79417600	Enhancers	NH-A	brain
19	chr14:79416600-79418000	Enhancers	Fetal Intestine Small	intestine
20	chr14:79416600-79418400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:79416800-79417000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:79416800-79417200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:79416800-79417400	Enhancers	Osteobl	bone
24	chr14:79416800-79418800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:79416800-79426200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:79416800-79436000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr14:79417000-79417200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:79417000-79417400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr14:79417000-79417400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr14:79417000-79417400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:79417000-79417400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:79417200-79417400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:79417400-79417800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:79417400-79418000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:79417800-79419000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:79418000-79418200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr14:79419000-79419800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:79421400-79422000	Enhancers	Brain Cingulate Gyrus	brain
39	chr14:79421600-79422000	Enhancers	Brain Hippocampus Middle	brain
40	chr14:79422000-79426000	Weak transcription	Brain Hippocampus Middle	brain
41	chr14:79423600-79426200	Weak transcription	Brain Angular Gyrus	brain
42	chr14:79425800-79427000	Enhancers	Rectal Smooth Muscle	rectum
43	chr14:79426000-79426200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:79426000-79426200	Enhancers	Brain Hippocampus Middle	brain
45	chr14:79426200-79426400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:79426200-79426400	Active TSS	Muscle Satellite Cultured Cells	--
47	chr14:79426200-79426400	Active TSS	Fetal Lung	lung
48	chr14:79426200-79426400	Active TSS	HSMM	muscle
49	chr14:79426200-79426400	Active TSS	Osteobl	bone
50	chr14:79426200-79426600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links