Variant report

Variant	esv3432746
Chromosome Location	chr14:22315607-22315836
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	chr14:22311888-22315608	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:22310665..22312480-chr14:22315447..22317872,2	MCF-7	breast:
2	chr14:22314728..22316376-chr14:22332070..22334330,2	MCF-7	breast:

Variant related genes	Relation type
TRAV8-3	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150319901	chr14:22315608-22315609	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs138901810	chr14:22315622-22315623	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs66494842	chr14:22315670-22315671	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184166581	chr14:22315682-22315683	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs371445627	chr14:22315721-22315722	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs189534504	chr14:22315747-22315748	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs550593800	chr14:22315768-22315769	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs180960982	chr14:22315798-22315799	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs66945837	chr14:22315803-22315804	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551449984	chr14:22315830-22315831	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs149396596	chr14:22315834-22315835	Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Barrett''s syndrome	19417022	CNVD
Lysinuric protein intolerance	18716612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22314200-22316400	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 1	blood
2	chr14:22314600-22317000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
3	chr14:22314600-22317200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr14:22314600-22318000	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr14:22314600-22318400	Active TSS	Thymus	Thymus
6	chr14:22314600-22318800	Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr14:22314600-22326600	Active TSS	Primary T cells from cord blood	blood
8	chr14:22314800-22317000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:22315200-22317400	Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr14:22315200-22318200	Active TSS	Fetal Thymus	thymus
11	chr14:22315200-22319400	Active TSS	Primary T cells fromperipheralblood	blood
12	chr14:22315400-22316200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:22315400-22317200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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