Variant report

Variant	esv1804973
Chromosome Location	chr14:22410620-22420407
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	CEBPB	chr14:22411660-22411982	HepG2	liver:	n/a	chr14:22411805-22411816
2	CEBPB	chr14:22411672-22411973	A549	lung:	n/a	chr14:22411805-22411816
3	MAFK	chr14:22420124-22420208	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAFK	chr14:22416386-22416485	HepG2	liver:	n/a	chr14:22416418-22416438
5	POLR2A	chr14:22410472-22410674	K562	blood:	n/a	n/a
6	POLR2A	chr14:22412208-22412218	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr14:22416648-22416753	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr14:22417696-22417715	K562	blood:	n/a	n/a
9	POLR2A	chr14:22414047-22414125	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr14:22418164-22419105	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4E2-5	chr14:22418629-22418877	NONHSAT035722

Variant related genes	Relation type
TRAV15	TF binding region

Extended variants
information (count: 332 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2242540	chr14:22410620-22410621	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182454172	chr14:22410715-22410716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78990846	chr14:22410716-22410717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555551640	chr14:22410742-22410743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148490965	chr14:22410757-22410758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539964830	chr14:22410779-22410780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186703176	chr14:22410781-22410782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114578423	chr14:22410829-22410830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142656564	chr14:22410867-22410868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545757770	chr14:22410946-22410947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150937392	chr14:22410977-22410978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140753955	chr14:22411034-22411035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550856557	chr14:22411055-22411056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567570866	chr14:22411089-22411090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547303458	chr14:22411128-22411129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548316942	chr14:22411164-22411165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561885770	chr14:22411221-22411222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144684826	chr14:22411230-22411231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538055916	chr14:22411245-22411246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17112440	chr14:22411348-22411349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs371263557	chr14:22411434-22411435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114316187	chr14:22411486-22411487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200155759	chr14:22411494-22411495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs55796353	chr14:22411501-22411502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143566306	chr14:22411503-22411504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1159674	chr14:22411504-22411505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76627735	chr14:22411513-22411514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550196120	chr14:22411515-22411516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs8010933	chr14:22411545-22411546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535778480	chr14:22411637-22411638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555514355	chr14:22411665-22411666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4982532	chr14:22411672-22411673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs114523224	chr14:22411686-22411687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557501097	chr14:22411687-22411688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553479022	chr14:22411708-22411709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576760960	chr14:22411716-22411717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146708156	chr14:22411720-22411721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140288787	chr14:22411747-22411748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576257280	chr14:22411824-22411825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369808455	chr14:22411898-22411899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145122256	chr14:22411955-22411956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527507736	chr14:22411988-22411989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541532535	chr14:22412007-22412008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138882752	chr14:22412014-22412015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191561257	chr14:22412032-22412033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550103320	chr14:22412045-22412046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184903929	chr14:22412064-22412065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149434682	chr14:22412077-22412078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549301752	chr14:22412078-22412079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201709886	chr14:22412090-22412091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Barrett''s syndrome	19417022	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22409800-22411000	Enhancers	Primary T cells from cord blood	blood
2	chr14:22410000-22410800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:22410200-22411000	Enhancers	Thymus	Thymus
4	chr14:22410400-22418000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr14:22410800-22411000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr14:22411000-22414000	Weak transcription	Primary T cells from cord blood	blood
7	chr14:22412800-22413400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:22413000-22413800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr14:22414000-22414800	Enhancers	Primary T cells from cord blood	blood
10	chr14:22415600-22416000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:22417800-22418200	Bivalent Enhancer	Dnd41	blood
12	chr14:22417800-22419000	Enhancers	Thymus	Thymus
13	chr14:22417800-22419400	Enhancers	Fetal Thymus	thymus
14	chr14:22418000-22418200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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