Variant report

Variant	esv3336602
Chromosome Location	chr14:35811677-35812030
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:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35698922..35700571-chr14:35810245..35812248,2	MCF-7	breast:
2	chr1:235242161..235244380-chr14:35810854..35813654,2	MCF-7	breast:
3	chr14:35774042..35776362-chr14:35810358..35812429,2	MCF-7	breast:
4	chr14:35772058..35774272-chr14:35810527..35812254,2	MCF-7	breast:
5	chr14:35810790..35811847-chr14:35873610..35874301,3	MCF-7	breast:
6	chr14:35700471..35702762-chr14:35811850..35814628,2	MCF-7	breast:
7	chr14:35757408..35763930-chr14:35809319..35813404,11	MCF-7	breast:
8	chr14:35765428..35767078-chr14:35809489..35811845,2	MCF-7	breast:
9	chr14:35783009..35785578-chr14:35809337..35811839,2	MCF-7	breast:
10	chr14:35790365..35792681-chr14:35809651..35811760,2	MCF-7	breast:
11	chr14:35681682..35685352-chr14:35808762..35812906,3	MCF-7	breast:
12	chr14:35515127..35516753-chr14:35810234..35812265,2	MCF-7	breast:
13	chr14:35589885..35593973-chr14:35809162..35812137,5	MCF-7	breast:
14	chr14:35804902..35807934-chr14:35810651..35813744,3	K562	blood:
15	chr14:35760612..35764048-chr14:35809630..35812978,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NFKBIA-4	chr14:35811376-35812101	l_964_chr14:35808028-35812101_thyroid

No data

Variant related genes	Relation type
ENSG00000100890	chromatin interactions
ENSG00000258790	chromatin interactions
ENSG00000092020	chromatin interactions
ENSG00000265530	chromatin interactions
ENSG00000151327	chromatin interactions
ENSG00000100902	chromatin interactions
ENSG00000100906	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4981285	chr14:35811699-35811700	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534458691	chr14:35811713-35811714	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
3	rs553990021	chr14:35811762-35811763	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
4	rs188130393	chr14:35811795-35811796	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
5	rs541558099	chr14:35811801-35811802	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
6	rs561422791	chr14:35811831-35811832	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
7	rs148119325	chr14:35811884-35811885	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
8	rs567597223	chr14:35811925-35811926	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
9	rs543876887	chr14:35811928-35811929	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
10	rs113047547	chr14:35811946-35811947	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
11	rs533125158	chr14:35811972-35811973	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
12	rs548222192	chr14:35811999-35812000	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
13	rs113076440	chr14:35812018-35812019	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD
Lung cancer	21569311	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Lung adenocarcinoma	17982442	CNVD
Cancer	20164920	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35800000-35815000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr14:35800600-35814400	Enhancers	Placenta	Placenta
3	chr14:35800800-35812200	Enhancers	Fetal Thymus	thymus
4	chr14:35800800-35813800	Enhancers	Lung	lung
5	chr14:35805800-35821000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:35806200-35812400	Enhancers	Ovary	ovary
7	chr14:35806800-35816200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:35806800-35816600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:35807400-35816600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:35808000-35813800	Enhancers	Spleen	Spleen
11	chr14:35808200-35814400	Enhancers	Primary hematopoietic stem cells	blood
12	chr14:35808400-35812000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:35808400-35812200	Enhancers	Fetal Intestine Large	intestine
14	chr14:35808400-35812200	Enhancers	Fetal Stomach	stomach
15	chr14:35808600-35811800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr14:35808600-35812000	Enhancers	Primary T cells from cord blood	blood
17	chr14:35808800-35812000	Enhancers	Small Intestine	intestine
18	chr14:35808800-35812200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr14:35808800-35812200	Enhancers	Pancreas	Pancrea
20	chr14:35809000-35813200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:35809000-35813800	Enhancers	Fetal Muscle Leg	muscle
22	chr14:35809400-35811800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:35809400-35814400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr14:35809800-35812000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr14:35810000-35812000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:35810000-35812200	Enhancers	Fetal Heart	heart
27	chr14:35810000-35812200	Enhancers	NHLF	lung
28	chr14:35810000-35812400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr14:35810200-35811800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr14:35810200-35811800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:35810200-35811800	Flanking Active TSS	A549	lung
32	chr14:35810200-35812000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr14:35810200-35812000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:35810200-35812000	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr14:35810200-35812000	Flanking Active TSS	Hela-S3	cervix
36	chr14:35810200-35812000	Enhancers	HMEC	breast
37	chr14:35810200-35812200	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr14:35810200-35813600	Enhancers	Fetal Intestine Small	intestine
39	chr14:35810400-35811800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:35810400-35811800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:35810400-35811800	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr14:35810400-35811800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr14:35810400-35811800	Flanking Active TSS	Colonic Mucosa	Colon
44	chr14:35810400-35811800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr14:35810400-35811800	Enhancers	NH-A	brain
46	chr14:35810400-35812000	Enhancers	Thymus	Thymus
47	chr14:35810400-35812200	Flanking Bivalent TSS/Enh	HepG2	liver
48	chr14:35810600-35811800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:35810600-35811800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:35810600-35812000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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