Variant report

Variant	esv3523496
Chromosome Location	chr14:32952738-32954639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:150)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:150 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:32953383-32953584	K562	blood:	n/a	n/a
2	BATF	chr14:32953337-32954435	GM12878	blood:	n/a	n/a
3	BATF	chr14:32953354-32954358	GM12878	blood:	n/a	n/a
4	BCL11A	chr14:32953284-32954370	GM12878	blood:	n/a	n/a
5	BCL11A	chr14:32953360-32954352	GM12878	blood:	n/a	n/a
6	BHLHE40	chr14:32953211-32953584	K562	blood:	n/a	n/a
7	BHLHE40	chr14:32953340-32954372	HepG2	liver:	n/a	n/a
8	CEBPD	chr14:32953319-32954531	K562	blood:	n/a	n/a
9	CHD2	chr14:32953383-32953583	K562	blood:	n/a	n/a
10	CTCF	chr14:32953952-32954359	K562	blood:	n/a	n/a
11	CTCF	chr14:32953210-32953585	K562	blood:	n/a	n/a
12	CTCF	chr14:32954209-32954344	K562	blood:	n/a	n/a
13	CTCF	chr14:32954467-32954538	Lung_OC	lung:	n/a	n/a
14	CTCF	chr14:32954017-32954168	K562	blood:	n/a	n/a
15	CTCF	chr14:32953349-32954362	A549	lung:	n/a	n/a
16	CUX1	chr14:32953211-32953584	K562	blood:	n/a	n/a
17	EBF1	chr14:32953332-32954427	GM12878	blood:	n/a	n/a
18	EBF1	chr14:32953350-32954461	GM12878	blood:	n/a	n/a
19	ELK1	chr14:32953210-32953584	K562	blood:	n/a	n/a
20	EP300	chr14:32954173-32954421	GM12878	blood:	n/a	n/a
21	EP300	chr14:32953955-32954166	GM12878	blood:	n/a	n/a
22	EP300	chr14:32953259-32954374	GM12878	blood:	n/a	chr14:32953506-32953514 chr14:32953640-32953649
23	EP300	chr14:32953344-32953950	GM12878	blood:	n/a	chr14:32953506-32953514 chr14:32953640-32953649
24	FOSL2	chr14:32953346-32954366	HepG2	liver:	n/a	n/a
25	FOSL2	chr14:32953316-32954396	HepG2	liver:	n/a	n/a
26	FOXA1	chr14:32953647-32954387	HepG2	liver:	n/a	n/a
27	FOXM1	chr14:32953224-32954591	GM12878	blood:	n/a	n/a
28	FOXP2	chr14:32953385-32954380	SK-N-MC	brain:	n/a	n/a
29	FOXP2	chr14:32953314-32954366	PFSK-1	brain:	n/a	n/a
30	GABPA	chr14:32953350-32954362	Hela-S3	cervix:	n/a	n/a
31	GABPA	chr14:32953537-32953688	Hela-S3	cervix:	n/a	n/a
32	GABPA	chr14:32953906-32954152	Hela-S3	cervix:	n/a	n/a
33	GABPA	chr14:32954199-32954331	Hela-S3	cervix:	n/a	n/a
34	GABPA	chr14:32953695-32953890	Hela-S3	cervix:	n/a	n/a
35	GATA2	chr14:32953381-32954470	K562	blood:	n/a	chr14:32954158-32954168
36	GTF2F1	chr14:32953212-32953584	K562	blood:	n/a	n/a
37	HCFC1	chr14:32953383-32953583	K562	blood:	n/a	n/a
38	HEY1	chr14:32953900-32954158	HepG2	liver:	n/a	n/a
39	HEY1	chr14:32954192-32954408	HepG2	liver:	n/a	n/a
40	HEY1	chr14:32953385-32953518	HepG2	liver:	n/a	n/a
41	HEY1	chr14:32953531-32953689	HepG2	liver:	n/a	n/a
42	HEY1	chr14:32953345-32954466	K562	blood:	n/a	n/a
43	HEY1	chr14:32953258-32954374	HepG2	liver:	n/a	n/a
44	HEY1	chr14:32953696-32953896	HepG2	liver:	n/a	n/a
45	IRF4	chr14:32953311-32954488	GM12878	blood:	n/a	n/a
46	IRF4	chr14:32953309-32954396	GM12878	blood:	n/a	n/a
47	JUND	chr14:32953535-32953689	HepG2	liver:	n/a	n/a
48	JUND	chr14:32953903-32954154	HepG2	liver:	n/a	n/a
49	JUND	chr14:32953362-32954434	HepG2	liver:	n/a	n/a
50	JUND	chr14:32953211-32953411	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000259045	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202027209	chr14:32952748-32952749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181719409	chr14:32952776-32952777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563909827	chr14:32952781-32952782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144587717	chr14:32952785-32952786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs8005434	chr14:32952798-32952799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185676912	chr14:32952838-32952839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143795937	chr14:32952839-32952840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568855329	chr14:32952845-32952846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs8005890	chr14:32952873-32952874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558844856	chr14:32952879-32952880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577040151	chr14:32952912-32952913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534957878	chr14:32952935-32952936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553229745	chr14:32952936-32952937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574831286	chr14:32952937-32952938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541814516	chr14:32952941-32952942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563751033	chr14:32952942-32952943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575604800	chr14:32952943-32952944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs8010211	chr14:32952967-32952968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs532495926	chr14:32952977-32952978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532995588	chr14:32952981-32952982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs8010225	chr14:32952990-32952991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540464436	chr14:32953034-32953035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561954225	chr14:32953094-32953095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs8010095	chr14:32953130-32953131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550259507	chr14:32953139-32953140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12232175	chr14:32953140-32953141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532854521	chr14:32953219-32953220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552910870	chr14:32953223-32953224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190433110	chr14:32953351-32953352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56029954	chr14:32953362-32953363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79762339	chr14:32953413-32953414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74676483	chr14:32953427-32953428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182102678	chr14:32953544-32953545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185998450	chr14:32953545-32953546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192153796	chr14:32953554-32953555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536120010	chr14:32953567-32953568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79533089	chr14:32953584-32953585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76071072	chr14:32953629-32953630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148253201	chr14:32953641-32953642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557386272	chr14:32953645-32953646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183782009	chr14:32953686-32953687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551476878	chr14:32953688-32953689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76461767	chr14:32953725-32953726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142902100	chr14:32953857-32953858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189188846	chr14:32953866-32953867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140179017	chr14:32953884-32953885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553194531	chr14:32953890-32953891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568413997	chr14:32953893-32953894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536151031	chr14:32953895-32953896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557035376	chr14:32953905-32953906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
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
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32947600-32962200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:32947800-32960600	Weak transcription	Fetal Brain Male	brain
3	chr14:32947800-32963400	Weak transcription	Right Atrium	heart
4	chr14:32950800-32960600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:32951400-32960600	Weak transcription	Left Ventricle	heart
6	chr14:32951600-32957000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:32951600-32960600	Weak transcription	Brain Substantia Nigra	brain
8	chr14:32951800-32960200	Weak transcription	Fetal Heart	heart

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