Variant report

Variant	esv2421955
Chromosome Location	chr14:35116088-35119976
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35114358..35116141-chr14:35116901..35120753,3	MCF-7	breast:
2	chr14:35117978..35120935-chr14:35181287..35183685,2	MCF-7	breast:
3	chr14:35118550..35121820-chr14:35125434..35129120,4	MCF-7	breast:
4	chr14:35103973..35106509-chr14:35117782..35119447,2	K562	blood:
5	chr14:35103930..35106002-chr14:35116842..35119484,2	MCF-7	breast:
6	chr14:35098107..35100970-chr14:35116404..35118114,2	MCF-7	breast:
7	chr14:35103956..35105473-chr14:35117782..35120594,2	K562	blood:
8	chr14:35099347..35101109-chr14:35116790..35118482,2	K562	blood:
9	chr14:35107496..35110407-chr14:35118041..35119624,2	MCF-7	breast:
10	chr14:35114358..35116141-chr14:35116901..35120753,3	MCF-7	breast:
11	chr14:35114973..35117245-chr14:35342771..35344725,2	K562	blood:
12	chr14:35017489..35019232-chr14:35116363..35118749,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165410	chromatin interactions
ENSG00000129515	chromatin interactions
ENSG00000198604	chromatin interactions
ENSG00000258738	chromatin interactions

Extended variants
information (count: 157 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:157 , 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	rs186959827	chr14:35116091-35116092	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs570686568	chr14:35116092-35116093	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs115600949	chr14:35116102-35116103	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs114807087	chr14:35116128-35116129	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573187201	chr14:35116133-35116134	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs145615532	chr14:35116158-35116159	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs535802976	chr14:35116195-35116196	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs147053036	chr14:35116263-35116264	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs147699655	chr14:35116265-35116266	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs142464575	chr14:35116279-35116280	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs564679649	chr14:35116287-35116288	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs9671535	chr14:35116289-35116290	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs192681530	chr14:35116320-35116321	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs375403493	chr14:35116335-35116336	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs559129381	chr14:35116429-35116430	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs573728198	chr14:35116466-35116467	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs372679480	chr14:35116487-35116488	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs531346654	chr14:35116501-35116502	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs34664422	chr14:35116518-35116519	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs80129580	chr14:35116519-35116520	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs543396760	chr14:35116531-35116532	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs79963893	chr14:35116562-35116563	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs527294201	chr14:35116585-35116586	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs561470050	chr14:35116600-35116601	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs530501445	chr14:35116645-35116646	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs148309638	chr14:35116649-35116650	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs570618454	chr14:35116651-35116652	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs183919952	chr14:35116702-35116703	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs546877132	chr14:35116718-35116719	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs566610432	chr14:35116721-35116722	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs188863643	chr14:35116722-35116723	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs555769160	chr14:35116743-35116744	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs192946098	chr14:35116746-35116747	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs141575854	chr14:35116747-35116748	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs541086432	chr14:35116751-35116752	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs578119464	chr14:35116775-35116776	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs540422745	chr14:35116791-35116792	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs111947769	chr14:35116840-35116841	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs573959246	chr14:35116867-35116868	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs150484524	chr14:35116873-35116874	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs561333615	chr14:35116968-35116969	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs138250426	chr14:35116993-35116994	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs115999371	chr14:35117033-35117034	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs563979106	chr14:35117040-35117041	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs184217476	chr14:35117067-35117068	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs527833602	chr14:35117075-35117076	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs546444627	chr14:35117088-35117089	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs566779611	chr14:35117108-35117109	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs577508080	chr14:35117128-35117129	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs201693165	chr14:35117129-35117130	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Acute lymphoblastic leukemia	20067559	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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35109000-35117000	Weak transcription	Hela-S3	cervix
2	chr14:35111800-35117000	Weak transcription	Placenta	Placenta
3	chr14:35115400-35116200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr14:35115600-35119200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:35115800-35116400	Bivalent Enhancer	HepG2	liver
6	chr14:35116000-35116200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:35116000-35116400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr14:35116200-35116400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr14:35117000-35117600	Bivalent Enhancer	HepG2	liver
10	chr14:35117000-35118000	Enhancers	Hela-S3	cervix
11	chr14:35117000-35121600	Enhancers	Placenta	Placenta
12	chr14:35117600-35117800	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr14:35117600-35118200	Enhancers	A549	lung
14	chr14:35117600-35118200	Enhancers	K562	blood
15	chr14:35117600-35120000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:35117800-35118000	Bivalent/Poised TSS	HepG2	liver
17	chr14:35118000-35118200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr14:35118000-35118200	Flanking Active TSS	Hela-S3	cervix
19	chr14:35118000-35118200	Enhancers	Osteobl	bone
20	chr14:35118000-35118400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:35118000-35118400	Flanking Bivalent TSS/Enh	HepG2	liver
22	chr14:35118000-35118400	Enhancers	NH-A	brain
23	chr14:35118000-35120600	Enhancers	NHDF-Ad	bronchial
24	chr14:35118000-35120800	Enhancers	NHLF	lung
25	chr14:35118200-35118400	Flanking Active TSS	A549	lung
26	chr14:35118200-35118400	Enhancers	Hela-S3	cervix
27	chr14:35118200-35118400	Flanking Active TSS	K562	blood
28	chr14:35118200-35118600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr14:35118200-35118600	Flanking Active TSS	Osteobl	bone
30	chr14:35118200-35118800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:35118200-35119800	Enhancers	HSMM	muscle
32	chr14:35118200-35120200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:35118200-35120400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:35118200-35120800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:35118200-35120800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:35118200-35120800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:35118200-35120800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr14:35118200-35120800	Enhancers	HUVEC	blood vessel
39	chr14:35118200-35120800	Enhancers	NHEK	skin
40	chr14:35118200-35122400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:35118400-35118600	Enhancers	A549	lung
42	chr14:35118400-35118600	Flanking Active TSS	Hela-S3	cervix
43	chr14:35118400-35118600	Flanking Active TSS	NH-A	brain
44	chr14:35118400-35118800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:35118400-35118800	Bivalent Enhancer	HepG2	liver
46	chr14:35118400-35119400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:35118400-35120600	Enhancers	HSMMtube	muscle
48	chr14:35118400-35120800	Enhancers	HMEC	breast
49	chr14:35118400-35122000	Enhancers	K562	blood
50	chr14:35118600-35118800	Flanking Active TSS	A549	lung

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