Variant report

Variant	esv3530661
Chromosome Location	chr14:70280183-70282696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70276572..70278716-chr14:70281212..70282765,2	MCF-7	breast:
2	chr14:70278462..70280862-chr14:70497209..70499902,2	MCF-7	breast:

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

Extended variants
information (count: 91 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114076946	chr14:70280203-70280204	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs575120095	chr14:70280204-70280205	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs74060551	chr14:70280230-70280231	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs11627012	chr14:70280239-70280240	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371383365	chr14:70280244-70280245	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs113550927	chr14:70280267-70280268	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs564607693	chr14:70280309-70280310	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs114454190	chr14:70280314-70280315	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs11627089	chr14:70280321-70280322	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561942624	chr14:70280382-70280383	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs529961438	chr14:70280476-70280477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186541691	chr14:70280508-70280509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560267272	chr14:70280561-70280562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375097704	chr14:70280595-70280596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112247038	chr14:70280646-70280647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10450925	chr14:70280682-70280683	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531225047	chr14:70280683-70280684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs55668218	chr14:70280688-70280689	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549701593	chr14:70280698-70280699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141281563	chr14:70280709-70280710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567971603	chr14:70280721-70280722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111762599	chr14:70280743-70280744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113712365	chr14:70280770-70280771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs56756762	chr14:70280783-70280784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs60764459	chr14:70280806-70280807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369912956	chr14:70280840-70280841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74060553	chr14:70280879-70280880	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576559880	chr14:70280889-70280890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543563752	chr14:70280897-70280898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199574893	chr14:70280931-70280932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113035219	chr14:70280945-70280946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573972740	chr14:70280947-70280948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200620089	chr14:70280951-70280952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141972697	chr14:70280957-70280958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201588481	chr14:70280967-70280968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192411466	chr14:70281003-70281004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28785205	chr14:70281144-70281145	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545639418	chr14:70281164-70281165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375188564	chr14:70281213-70281214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35738653	chr14:70281248-70281249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563940651	chr14:70281286-70281287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184699046	chr14:70281300-70281301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74060554	chr14:70281397-70281398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188027548	chr14:70281412-70281413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193104681	chr14:70281444-70281445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139625245	chr14:70281466-70281467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569734944	chr14:70281519-70281520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149604284	chr14:70281554-70281555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536614853	chr14:70281610-70281611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540142225	chr14:70281612-70281613	Enhancers Weak transcription	n/a	n/a	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70277800-70280200	Weak transcription	Fetal Intestine Small	intestine
2	chr14:70278200-70280200	Weak transcription	Fetal Intestine Large	intestine
3	chr14:70278400-70280200	Active TSS	Placenta	Placenta
4	chr14:70278400-70281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:70279000-70280600	Enhancers	HepG2	liver
6	chr14:70280000-70284000	Weak transcription	Liver	Liver
7	chr14:70280000-70285200	Weak transcription	Hela-S3	cervix
8	chr14:70280200-70280400	Flanking Active TSS	Placenta	Placenta
9	chr14:70280200-70282800	Enhancers	Fetal Intestine Large	intestine
10	chr14:70280200-70282800	Enhancers	Fetal Intestine Small	intestine
11	chr14:70280400-70282000	Weak transcription	Placenta	Placenta
12	chr14:70280600-70281000	Weak transcription	HepG2	liver
13	chr14:70280800-70281000	Enhancers	Colonic Mucosa	Colon
14	chr14:70281000-70281200	Enhancers	HepG2	liver
15	chr14:70281000-70282400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:70281200-70281400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:70281200-70281800	Enhancers	NHEK	skin
18	chr14:70281200-70285200	Weak transcription	HepG2	liver
19	chr14:70281600-70283200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:70282000-70282600	Enhancers	Placenta	Placenta
21	chr14:70282000-70283000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:70282400-70282600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:70282400-70283200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:70282400-70287800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:70282600-70284200	Bivalent Enhancer	Placenta	Placenta

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