Variant report

Variant	esv3384545
Chromosome Location	chr14:24407544-24408123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr14:24407649-24407795	K562	blood:	n/a	n/a
2	MAFF	chr14:24408120-24408389	K562	blood:	n/a	chr14:24408224-24408242
3	MAFF	chr14:24408072-24408410	HepG2	liver:	n/a	chr14:24408224-24408242
4	MAFK	chr14:24408064-24408413	HepG2	liver:	n/a	chr14:24408225-24408240
5	MAFK	chr14:24408081-24408400	HepG2	liver:	n/a	chr14:24408225-24408240
6	MAFK	chr14:24408106-24408377	IMR90	lung:	n/a	chr14:24408225-24408240

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:24035516..24037456-chr14:24405967..24408124,2	MCF-7	breast:
2	chr14:24404663..24407732-chr14:24421458..24424450,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRL-1	chr14:24407940-24410367	NONHSAT035953
2	lnc-NRL-1	chr14:24407940-24410367	ENSG00000215256.3
3	lnc-NRL-1	chr14:24407940-24410367	NONHSAT035952
4	lnc-NRL-1	chr14:24407940-24410367	NR_023921
5	lnc-NRL-1	chr14:24407940-24410367	NR_023923
6	lnc-NRL-1	chr14:24407940-24410367	NONHSAT035954

Variant related genes	Relation type
ENSG00000197775	TF binding region
LINC00596	TF binding region
ENSG00000215256	chromatin interactions
ENSG00000213983	chromatin interactions
ENSG00000157326	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574220454	chr14:24407544-24407545	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs186931119	chr14:24407576-24407577	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs150119777	chr14:24407604-24407605	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs532228911	chr14:24407627-24407628	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs138510686	chr14:24407645-24407646	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs56861678	chr14:24407654-24407655	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs386775657	chr14:24407658-24407659	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs192464703	chr14:24407659-24407660	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs369842293	chr14:24407661-24407662	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs567628147	chr14:24407662-24407663	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs184321481	chr14:24407664-24407665	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs547177123	chr14:24407686-24407687	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs141540272	chr14:24407779-24407780	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs539284246	chr14:24407809-24407810	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188872954	chr14:24407948-24407949	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs575924254	chr14:24408075-24408076	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs386380905	chr14:24408112-24408113	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs10701524	chr14:24408113-24408114	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs66593481	chr14:24408114-24408115	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21390271	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24399200-24408800	Weak transcription	Lung	lung
2	chr14:24399400-24408200	Weak transcription	Left Ventricle	heart
3	chr14:24399400-24410000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:24399400-24411000	Weak transcription	Brain Anterior Caudate	brain
5	chr14:24399600-24409000	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:24399600-24409200	Weak transcription	Brain Germinal Matrix	brain
7	chr14:24400000-24408400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:24400000-24420000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr14:24400400-24411800	Weak transcription	HMEC	breast
10	chr14:24400600-24408600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:24400600-24408800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:24400600-24409600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:24400600-24421000	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:24400800-24408600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr14:24400800-24409000	Weak transcription	Aorta	Aorta
16	chr14:24401400-24409800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:24401800-24409800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:24402200-24410000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:24402200-24421200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:24402400-24409800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:24403000-24408400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:24403000-24413200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:24403200-24408800	Weak transcription	Fetal Lung	lung
24	chr14:24403200-24409000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr14:24403200-24409000	Weak transcription	Fetal Stomach	stomach
26	chr14:24403200-24409200	Weak transcription	Fetal Muscle Leg	muscle
27	chr14:24403200-24409800	Weak transcription	Ovary	ovary
28	chr14:24403400-24408800	Enhancers	Liver	Liver
29	chr14:24404000-24408800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:24404800-24409400	Enhancers	HepG2	liver
31	chr14:24405000-24409200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:24405200-24407800	Enhancers	K562	blood
33	chr14:24405200-24411800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:24405400-24409800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:24405600-24411800	Weak transcription	Esophagus	oesophagus
36	chr14:24405600-24422400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr14:24405800-24408200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:24405800-24410000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr14:24405800-24421400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:24405800-24422400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:24406000-24408400	Weak transcription	Adipose Nuclei	Adipose
42	chr14:24406000-24410000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:24406200-24411400	Weak transcription	Stomach Mucosa	stomach
44	chr14:24406400-24409200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr14:24406600-24408200	Weak transcription	Primary T cells from cord blood	blood
46	chr14:24406600-24413400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:24406600-24416200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:24406800-24414600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr14:24407000-24408800	Weak transcription	Fetal Intestine Small	intestine
50	chr14:24407000-24409800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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