Variant report

Variant	esv3530570
Chromosome Location	chr14:35115087-35122262
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35120647..35123453-chr14:35134189..35136107,2	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	chr14:35107496..35110407-chr14:35118041..35119624,2	MCF-7	breast:
5	chr14:35103956..35105473-chr14:35117782..35120594,2	K562	blood:
6	chr14:35114973..35117245-chr14:35342771..35344725,2	K562	blood:
7	chr14:35114358..35116141-chr14:35116901..35120753,3	MCF-7	breast:
8	chr14:35099347..35101109-chr14:35116790..35118482,2	K562	blood:
9	chr14:35114358..35116141-chr14:35116901..35120753,3	MCF-7	breast:
10	chr14:35103973..35106509-chr14:35117782..35119447,2	K562	blood:
11	chr14:35098107..35100970-chr14:35116404..35118114,2	MCF-7	breast:
12	chr14:35103930..35106002-chr14:35116842..35119484,2	MCF-7	breast:
13	chr14:35017489..35019232-chr14:35116363..35118749,2	MCF-7	breast:

No data

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

Extended variants
information (count: 300 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148572788	chr14:35115099-35115100	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs546130537	chr14:35115143-35115144	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs559609807	chr14:35115149-35115150	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs528561755	chr14:35115188-35115189	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542087903	chr14:35115212-35115213	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562252204	chr14:35115218-35115219	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs141589402	chr14:35115363-35115364	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs551293965	chr14:35115369-35115370	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs57866235	chr14:35115422-35115423	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376715733	chr14:35115447-35115448	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112834217	chr14:35115462-35115463	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs552115070	chr14:35115490-35115491	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs371619500	chr14:35115494-35115495	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs565660008	chr14:35115495-35115496	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs534692417	chr14:35115519-35115520	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs146432922	chr14:35115553-35115554	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs567901082	chr14:35115556-35115557	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs536994333	chr14:35115597-35115598	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs556837843	chr14:35115601-35115602	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs368110271	chr14:35115659-35115660	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs185773961	chr14:35115667-35115668	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs545900966	chr14:35115699-35115700	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs553312822	chr14:35115726-35115727	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs571599530	chr14:35115727-35115728	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs9635193	chr14:35115736-35115737	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs534727029	chr14:35115743-35115744	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs562316885	chr14:35115782-35115783	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs531132019	chr14:35115784-35115785	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs190392008	chr14:35115814-35115815	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs565848007	chr14:35115834-35115835	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs541008240	chr14:35115846-35115847	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs554369013	chr14:35115850-35115851	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs564785121	chr14:35115872-35115873	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs182585892	chr14:35115877-35115878	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs149757779	chr14:35115938-35115939	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs565654452	chr14:35115948-35115949	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs145540891	chr14:35115970-35115971	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs547875317	chr14:35115971-35115972	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs56020528	chr14:35115974-35115975	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs536856313	chr14:35115976-35115977	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs369537930	chr14:35116032-35116033	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs186959827	chr14:35116091-35116092	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs570686568	chr14:35116092-35116093	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs115600949	chr14:35116102-35116103	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs114807087	chr14:35116128-35116129	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs573187201	chr14:35116133-35116134	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs145615532	chr14:35116158-35116159	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs535802976	chr14:35116195-35116196	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs147053036	chr14:35116263-35116264	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs147699655	chr14:35116265-35116266	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 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:94 , 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	chr14:35113200-35115400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr14:35115400-35116200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr14:35115600-35119200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:35115800-35116400	Bivalent Enhancer	HepG2	liver
7	chr14:35116000-35116200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:35116000-35116400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr14:35116200-35116400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr14:35117000-35117600	Bivalent Enhancer	HepG2	liver
11	chr14:35117000-35118000	Enhancers	Hela-S3	cervix
12	chr14:35117000-35121600	Enhancers	Placenta	Placenta
13	chr14:35117600-35117800	Flanking Bivalent TSS/Enh	HepG2	liver
14	chr14:35117600-35118200	Enhancers	A549	lung
15	chr14:35117600-35118200	Enhancers	K562	blood
16	chr14:35117600-35120000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:35117800-35118000	Bivalent/Poised TSS	HepG2	liver
18	chr14:35118000-35118200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr14:35118000-35118200	Flanking Active TSS	Hela-S3	cervix
20	chr14:35118000-35118200	Enhancers	Osteobl	bone
21	chr14:35118000-35118400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:35118000-35118400	Flanking Bivalent TSS/Enh	HepG2	liver
23	chr14:35118000-35118400	Enhancers	NH-A	brain
24	chr14:35118000-35120600	Enhancers	NHDF-Ad	bronchial
25	chr14:35118000-35120800	Enhancers	NHLF	lung
26	chr14:35118200-35118400	Flanking Active TSS	A549	lung
27	chr14:35118200-35118400	Enhancers	Hela-S3	cervix
28	chr14:35118200-35118400	Flanking Active TSS	K562	blood
29	chr14:35118200-35118600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr14:35118200-35118600	Flanking Active TSS	Osteobl	bone
31	chr14:35118200-35118800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:35118200-35119800	Enhancers	HSMM	muscle
33	chr14:35118200-35120200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:35118200-35120400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:35118200-35120800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:35118200-35120800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:35118200-35120800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:35118200-35120800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr14:35118200-35120800	Enhancers	HUVEC	blood vessel
40	chr14:35118200-35120800	Enhancers	NHEK	skin
41	chr14:35118200-35122400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:35118400-35118600	Enhancers	A549	lung
43	chr14:35118400-35118600	Flanking Active TSS	Hela-S3	cervix
44	chr14:35118400-35118600	Flanking Active TSS	NH-A	brain
45	chr14:35118400-35118800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:35118400-35118800	Bivalent Enhancer	HepG2	liver
47	chr14:35118400-35119400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:35118400-35120600	Enhancers	HSMMtube	muscle
49	chr14:35118400-35120800	Enhancers	HMEC	breast
50	chr14:35118400-35122000	Enhancers	K562	blood

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