Variant report

Variant	esv32876
Chromosome Location	chr14:72147798-72148084
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr14:72147721-72148019	H1-hESC	embryonic stem cell:	n/a	n/a
2	CREB1	chr14:72147737-72148239	H1-hESC	embryonic stem cell:	n/a	n/a
3	GTF2F1	chr14:72148015-72148083	K562	blood:	n/a	n/a
4	JUND	chr14:72147885-72148025	H1-hESC	embryonic stem cell:	n/a	n/a
5	NANOG	chr14:72147762-72148095	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:72147678-72147809	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:72147809-72148085	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr14:72147536-72148035	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:72147564-72148058	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr14:72147938-72147977	MCF10A-Er-Src	breast:	n/a	n/a
11	RXRA	chr14:72147755-72148193	H1-hESC	embryonic stem cell:	n/a	n/a
12	RXRA	chr14:72147793-72148168	H1-hESC	embryonic stem cell:	n/a	n/a
13	TCF12	chr14:72147744-72148062	H1-hESC	embryonic stem cell:	n/a	n/a
14	TEAD4	chr14:72147708-72148188	H1-hESC	embryonic stem cell:	n/a	n/a
15	TEAD4	chr14:72147769-72148206	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf57-2	chr14:72145495-72149556	ucscGeneNc_uc010arh_1

No data

Variant related genes	Relation type
SIPA1L1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564817071	chr14:72147809-72147810	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs575153993	chr14:72147840-72147841	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs118165204	chr14:72147898-72147899	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs34414504	chr14:72147899-72147900	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs541023770	chr14:72147942-72147943	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs576751343	chr14:72147949-72147950	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs34752706	chr14:72147956-72147957	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs544152577	chr14:72147994-72147995	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs557426388	chr14:72148023-72148024	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs566189621	chr14:72148032-72148033	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs545618628	chr14:72148042-72148043	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs17096112	chr14:72148047-72148048	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:68)

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	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72088200-72159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr14:72109800-72150800	Weak transcription	Colonic Mucosa	Colon
3	chr14:72118600-72191400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr14:72119200-72152200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:72125400-72151000	Weak transcription	Ovary	ovary
6	chr14:72126200-72159800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:72128000-72167800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:72128800-72147800	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:72129400-72153600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr14:72129400-72196800	Weak transcription	Right Ventricle	heart
11	chr14:72131800-72154000	Weak transcription	Fetal Heart	heart
12	chr14:72134000-72153200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:72134200-72151000	Weak transcription	NHDF-Ad	bronchial
14	chr14:72134200-72159000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:72139400-72153600	Weak transcription	Fetal Kidney	kidney
16	chr14:72139600-72150600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:72139600-72150800	Weak transcription	NHLF	lung
18	chr14:72139600-72151000	Weak transcription	Left Ventricle	heart
19	chr14:72139600-72151000	Weak transcription	Thymus	Thymus
20	chr14:72139600-72153800	Weak transcription	Fetal Lung	lung
21	chr14:72139800-72150600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:72139800-72150800	Weak transcription	HSMMtube	muscle
23	chr14:72139800-72155200	Weak transcription	Placenta	Placenta
24	chr14:72140000-72150800	Weak transcription	HepG2	liver
25	chr14:72140000-72151000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:72140000-72151000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr14:72140000-72151800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:72140000-72156800	Weak transcription	Fetal Thymus	thymus
29	chr14:72140000-72165800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:72140400-72148400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr14:72140400-72152000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:72140600-72176000	Weak transcription	Hela-S3	cervix
33	chr14:72142000-72151000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr14:72142000-72151000	Weak transcription	Aorta	Aorta
35	chr14:72142000-72151000	Weak transcription	Gastric	stomach
36	chr14:72142000-72153400	Weak transcription	Fetal Muscle Leg	muscle
37	chr14:72142000-72191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:72142200-72150800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:72142200-72150800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr14:72142200-72151000	Weak transcription	Adipose Nuclei	Adipose
41	chr14:72142400-72150600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:72142400-72150600	Weak transcription	Primary T cells from cord blood	blood
43	chr14:72142400-72150600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr14:72142400-72151600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:72142400-72153600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr14:72142400-72153600	Weak transcription	HSMM	muscle
47	chr14:72142600-72147800	Weak transcription	Osteobl	bone
48	chr14:72142600-72149000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr14:72142600-72149200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr14:72142600-72150400	Weak transcription	Primary monocytes fromperipheralblood	blood

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