Variant report

Variant	esv3530515
Chromosome Location	chr14:21778187-21778403
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21775709..21778456-chr14:21815008..21816691,2	MCF-7	breast:
2	chr14:21777230..21779351-chr14:21782852..21785830,2	MCF-7	breast:
3	chr14:21776722..21779291-chr14:21780222..21782831,3	K562	blood:
4	chr14:21735883..21738830-chr14:21774715..21778854,7	MCF-7	breast:
5	chr14:21774765..21778578-chr14:21848688..21854259,7	MCF-7	breast:
6	chr14:21775315..21780588-chr14:21785592..21789606,7	K562	blood:
7	chr14:21725317..21729371-chr14:21774547..21778706,6	K562	blood:
8	chr14:21777189..21779079-chr14:21786297..21788417,2	MCF-7	breast:
9	chr14:21733893..21736248-chr14:21775936..21778469,3	K562	blood:
10	chr14:21735133..21741012-chr14:21774869..21780347,13	MCF-7	breast:
11	chr14:21736279..21738855-chr14:21774365..21778910,7	K562	blood:
12	chr14:21776722..21779782-chr14:21780222..21783756,4	K562	blood:
13	chr14:21730115..21732637-chr14:21776169..21779224,3	MCF-7	breast:
14	chr14:21775315..21780554-chr14:21785592..21789539,5	K562	blood:
15	chr14:21734939..21739093-chr14:21774613..21780791,11	K562	blood:
16	chr14:21776403..21778650-chr14:21847769..21849405,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000092199	chromatin interactions
ENSG00000092200	chromatin interactions
ENSG00000092201	chromatin interactions
ENSG00000260830	chromatin interactions

Extended variants
information (count: 6 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66526042	chr14:21778187-21778188	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs143605235	chr14:21778204-21778205	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs577405670	chr14:21778351-21778352	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs200017511	chr14:21778398-21778399	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs201361696	chr14:21778400-21778401	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs201960086	chr14:21778401-21778402	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21777600-21778200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:21777600-21779000	Weak transcription	Small Intestine	intestine
3	chr14:21777600-21781600	Weak transcription	Fetal Intestine Large	intestine
4	chr14:21777600-21791400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:21777800-21779000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:21777800-21779800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:21777800-21781000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr14:21777800-21781400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr14:21777800-21781400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr14:21777800-21787600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:21778000-21779800	Weak transcription	HepG2	liver
12	chr14:21778000-21780000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:21778000-21785400	Weak transcription	GM12878-XiMat	blood
14	chr14:21778000-21787600	Weak transcription	Primary B cells from cord blood	blood

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