Variant report

Variant	esv3447359
Chromosome Location	chr14:21881490-21881926
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	POLR2A	chr14:21881747-21881787	A549	lung:	n/a	n/a

Variant related genes	Relation type
CHD8	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 74 )

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	rs76443324	chr14:21881505-21881506	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541442817	chr14:21881519-21881520	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564432756	chr14:21881520-21881521	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577919700	chr14:21881555-21881556	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185088497	chr14:21881570-21881571	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377183665	chr14:21881578-21881579	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369648719	chr14:21881582-21881583	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73579666	chr14:21881605-21881606	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs113374439	chr14:21881645-21881646	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9944063	chr14:21881648-21881649	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs549306693	chr14:21881649-21881650	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148345971	chr14:21881678-21881679	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552128395	chr14:21881701-21881702	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192119391	chr14:21881714-21881715	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570083823	chr14:21881802-21881803	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539023480	chr14:21881813-21881814	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570622514	chr14:21881818-21881819	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141541917	chr14:21881883-21881884	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74891070	chr14:21881921-21881922	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	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
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	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
Developmental delay	21147756	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
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21858162	CNVD
Schizophrenia	20967226	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22102821	CNVD
Neuroblastoma	19536264	CNVD
Schizophrenia	23813976	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ewing''s sarcoma	18628472	CNVD
Rheumatoid arthritis	23223014	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21853200-21884400	Strong transcription	NH-A	brain
2	chr14:21853200-21904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:21853400-21884200	Strong transcription	Colon Smooth Muscle	Colon
4	chr14:21853400-21884400	Strong transcription	Fetal Muscle Leg	muscle
5	chr14:21853400-21884800	Strong transcription	Fetal Brain Female	brain
6	chr14:21853400-21900000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:21853400-21900000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:21853400-21900000	Strong transcription	Adipose Nuclei	Adipose
9	chr14:21853400-21900000	Strong transcription	Placenta	Placenta
10	chr14:21853400-21900200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr14:21853400-21901800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:21853600-21884000	Strong transcription	Brain Substantia Nigra	brain
13	chr14:21853600-21884400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:21853600-21884400	Strong transcription	HSMM	muscle
15	chr14:21853600-21885000	Strong transcription	Stomach Smooth Muscle	stomach
16	chr14:21853600-21885800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:21853600-21886800	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:21853600-21888800	Strong transcription	Fetal Intestine Large	intestine
19	chr14:21853600-21897200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr14:21853600-21900000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:21853600-21900200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:21853600-21900200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr14:21853600-21901400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:21853600-21902000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:21853600-21903400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:21853800-21884400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:21853800-21900000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:21853800-21900000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:21853800-21900200	Strong transcription	Fetal Thymus	thymus
30	chr14:21853800-21901400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr14:21854000-21885800	Strong transcription	HepG2	liver
32	chr14:21854000-21900200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr14:21854000-21904000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:21854200-21884400	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr14:21854200-21885400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr14:21854400-21886400	Strong transcription	Dnd41	blood
37	chr14:21854400-21900000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:21854400-21900200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr14:21855200-21900200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:21855600-21884400	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr14:21855600-21897000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr14:21855600-21899200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:21855800-21884800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr14:21855800-21900200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr14:21855800-21900200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:21856000-21882000	Strong transcription	GM12878-XiMat	blood
47	chr14:21856000-21884800	Strong transcription	NHEK	skin
48	chr14:21856000-21885000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr14:21856000-21885600	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr14:21856000-21900000	Strong transcription	Liver	Liver

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