Variant report

Variant	esv3380898
Chromosome Location	chr14:70278336-70282507
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	chr14:70258156..70261059-chr14:70276205..70278349,3	MCF-7	breast:
2	chr14:70276572..70278716-chr14:70281212..70282765,2	MCF-7	breast:
3	chr14:70276572..70278716-chr14:70281212..70282765,2	MCF-7	breast:
4	chr14:70232929..70234493-chr14:70278295..70279993,2	MCF-7	breast:
5	chr14:70279519..70280030-chr14:70540702..70541378,2	MCF-7	breast:
6	chr14:70278462..70280862-chr14:70497209..70499902,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMOC1-1	chr14:70281982-70283285	XLOC_010860
2	lnc-SMOC1-1	chr14:70278479-70278715	XLOC_010860

No data

Variant related genes	Relation type
ENSG00000100650	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538865945	chr14:70278388-70278389	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557091772	chr14:70278392-70278393	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376159965	chr14:70278421-70278422	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185413528	chr14:70278423-70278424	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575454015	chr14:70278424-70278425	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542719663	chr14:70278434-70278435	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs144424843	chr14:70278527-70278528	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs115993406	chr14:70278554-70278555	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs118066404	chr14:70278589-70278590	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs547238747	chr14:70278599-70278600	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs540553472	chr14:70278604-70278605	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs191105953	chr14:70278644-70278645	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs181143299	chr14:70278648-70278649	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs565748430	chr14:70278679-70278680	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs202200922	chr14:70278685-70278686	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs11628665	chr14:70278686-70278687	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530091976	chr14:70278742-70278743	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2877598	chr14:70278763-70278764	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs151104240	chr14:70278885-70278886	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376305268	chr14:70278899-70278900	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546896978	chr14:70278911-70278912	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571616907	chr14:70278950-70278951	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11620808	chr14:70278964-70278965	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186450179	chr14:70279009-70279010	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191637324	chr14:70279034-70279035	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs59066042	chr14:70279069-70279070	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555325260	chr14:70279072-70279073	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182911300	chr14:70279073-70279074	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540268869	chr14:70279092-70279093	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558814586	chr14:70279176-70279177	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577081072	chr14:70279243-70279244	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs61035005	chr14:70279256-70279257	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs58229349	chr14:70279269-70279270	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530332262	chr14:70279285-70279286	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541942794	chr14:70279286-70279287	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs8005609	chr14:70279293-70279294	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs527683739	chr14:70279307-70279308	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552646042	chr14:70279313-70279314	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371151568	chr14:70279332-70279333	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7141629	chr14:70279426-70279427	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs187728280	chr14:70279433-70279434	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs550906963	chr14:70279435-70279436	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568940673	chr14:70279447-70279448	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536473622	chr14:70279450-70279451	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs56177148	chr14:70279457-70279458	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566600883	chr14:70279493-70279494	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs552781578	chr14:70279495-70279496	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs58712157	chr14:70279496-70279497	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs576451627	chr14:70279543-70279544	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574896948	chr14:70279564-70279565	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70274000-70279200	Weak transcription	Hela-S3	cervix
2	chr14:70275400-70280000	Enhancers	Liver	Liver
3	chr14:70275600-70278400	Enhancers	Placenta	Placenta
4	chr14:70276400-70278400	Weak transcription	Stomach Mucosa	stomach
5	chr14:70277800-70278400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:70277800-70280200	Weak transcription	Fetal Intestine Small	intestine
7	chr14:70278000-70278400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:70278000-70279000	Flanking Active TSS	HepG2	liver
9	chr14:70278200-70280200	Weak transcription	Fetal Intestine Large	intestine
10	chr14:70278400-70278600	Enhancers	Stomach Mucosa	stomach
11	chr14:70278400-70280200	Active TSS	Placenta	Placenta
12	chr14:70278400-70281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:70279000-70280600	Enhancers	HepG2	liver
14	chr14:70279200-70280000	Enhancers	Hela-S3	cervix
15	chr14:70280000-70284000	Weak transcription	Liver	Liver
16	chr14:70280000-70285200	Weak transcription	Hela-S3	cervix
17	chr14:70280200-70280400	Flanking Active TSS	Placenta	Placenta
18	chr14:70280200-70282800	Enhancers	Fetal Intestine Large	intestine
19	chr14:70280200-70282800	Enhancers	Fetal Intestine Small	intestine
20	chr14:70280400-70282000	Weak transcription	Placenta	Placenta
21	chr14:70280600-70281000	Weak transcription	HepG2	liver
22	chr14:70280800-70281000	Enhancers	Colonic Mucosa	Colon
23	chr14:70281000-70281200	Enhancers	HepG2	liver
24	chr14:70281000-70282400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:70281200-70281400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:70281200-70281800	Enhancers	NHEK	skin
27	chr14:70281200-70285200	Weak transcription	HepG2	liver
28	chr14:70281600-70283200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:70282000-70282600	Enhancers	Placenta	Placenta
30	chr14:70282000-70283000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:70282400-70282600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:70282400-70283200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:70282400-70287800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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