Variant report

Variant	esv1813868
Chromosome Location	chr14:22419884-22435602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:22425167-22425433	IMR90	lung:	n/a	chr14:22425302-22425313
2	CEBPB	chr14:22429612-22429882	A549	lung:	n/a	chr14:22429724-22429735
3	CEBPB	chr14:22429594-22429909	HepG2	liver:	n/a	chr14:22429724-22429735
4	CEBPB	chr14:22428892-22429149	HepG2	liver:	n/a	n/a
5	CEBPB	chr14:22425135-22425473	HepG2	liver:	n/a	chr14:22425302-22425313
6	CTCF	chr14:22433360-22433510	MCF-7	breast:	n/a	chr14:22433430-22433448 chr14:22433432-22433453
7	CTCF	chr14:22433400-22433504	MCF-7	breast:	n/a	chr14:22433430-22433448 chr14:22433432-22433453
8	CTCF	chr14:22433428-22433525	MCF-7	breast:	n/a	chr14:22433430-22433448 chr14:22433432-22433453
9	CTCF	chr14:22433428-22433523	MCF-7	breast:	n/a	chr14:22433430-22433448 chr14:22433432-22433453
10	CTCF	chr14:22433416-22433500	MCF-7	breast:	n/a	chr14:22433430-22433448 chr14:22433432-22433453
11	CTCF	chr14:22433425-22433532	MCF-7	breast:	n/a	chr14:22433430-22433448 chr14:22433432-22433453
12	CTCF	chr14:22433434-22433444	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr14:22427060-22427210	HepG2	liver:	n/a	n/a
14	JUN	chr14:22428887-22429112	HepG2	liver:	n/a	chr14:22428999-22429012
15	JUND	chr14:22428867-22429191	HepG2	liver:	n/a	n/a
16	MAFK	chr14:22420124-22420208	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr14:22433310-22433652	MCF-7	breast:	n/a	n/a
18	MYC	chr14:22427225-22427226	MCF-7	breast:	n/a	n/a
19	POLR2A	chr14:22421676-22421882	K562	blood:	n/a	n/a
20	POLR2A	chr14:22427252-22427353	A549	lung:	n/a	n/a
21	POLR2A	chr14:22420614-22420795	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr14:22429091-22429420	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr14:22427351-22427392	MCF-7	breast:	n/a	n/a
24	POLR2A	chr14:22429058-22429461	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr14:22432417-22432533	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr14:22429701-22429960	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr14:22427110-22427176	MCF-7	breast:	n/a	n/a
28	POLR2A	chr14:22427264-22427452	MCF-7	breast:	n/a	n/a
29	POLR2A	chr14:22426360-22426364	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr14:22427246-22427260	MCF-7	breast:	n/a	n/a
31	POLR2A	chr14:22420567-22421234	K562	blood:	n/a	n/a
32	SETDB1	chr14:22424987-22425358	U2OS	brain:	n/a	n/a
33	STAT3	chr14:22424412-22424767	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr14:22426036-22426223	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:22433489-22433539	HAEpiC	amniotic membrane:	n/a
2	chr14:22433489-22433539	AG09309	skin:	n/a
3	chr14:22433693-22433743	BE2_C	brain:	n/a
4	chr14:22433489-22433539	U87	brain:	n/a
5	chr14:22433489-22433539	GM12892	blood:	n/a
6	chr14:22433693-22433743	T-47D	breast:	n/a
7	chr14:22433489-22433539	Hepatocyte	liver:	n/a
8	chr14:22433489-22433539	HUVEC	blood vessel:	n/a
9	chr14:22433489-22433539	NB4	blood:	n/a
10	chr14:22433489-22433539	HL-60	blood:	n/a
11	chr14:22433693-22433743	AoSMC	blood vessel:	n/a
12	chr14:22433693-22433743	HUVEC	blood vessel:	n/a
13	chr14:22433489-22433539	HRCEpiC	kidney:	n/a
14	chr14:22433693-22433743	Caco-2	colon:	n/a
15	chr14:22433693-22433743	ovcar-3	ovarian:	n/a
16	chr14:22433693-22433743	GM06990	blood:	n/a
17	chr14:22433489-22433539	SK-N-SH	brain:	n/a
18	chr14:22433489-22433539	HCF	heart:	n/a
19	chr14:22433693-22433743	NHDF-neo	bronchial:	n/a
20	chr14:22433489-22433539	ECC-1	luminal epithelium:	n/a
21	chr14:22433693-22433743	GM12878	blood:	n/a
22	chr14:22433489-22433539	GM06990	blood:	n/a
23	chr14:22433693-22433743	LNCaP	prostate:	n/a
24	chr14:22433693-22433743	BJ	skin:	n/a
25	chr14:22433693-22433743	NHBE	bronchial:	n/a
26	chr14:22433489-22433539	Hela-S3	cervix:	n/a
27	chr14:22433489-22433539	HCM	heart:	n/a
28	chr14:22433693-22433743	GM12891	blood:	n/a
29	chr14:22433693-22433743	AG09319	gingival:	n/a
30	chr14:22433693-22433743	SK-N-SH_RA	brain:	n/a
31	chr14:22433489-22433539	AG10803	skin:	n/a
32	chr14:22433693-22433743	U87	brain:	n/a
33	chr14:22433489-22433539	HMEC	breast:	n/a
34	chr14:22433693-22433743	SK-N-SH	brain:	n/a
35	chr14:22433693-22433743	NT2-D1	testis:	n/a
36	chr14:22433693-22433743	IMR90	lung:	fetal
37	chr14:22433489-22433539	H1-hESC	embryonic stem cell:	embryo
38	chr14:22433693-22433743	HEEpiC	esophagus:	n/a
39	chr14:22433489-22433539	GM19239	blood:	n/a
40	chr14:22433489-22433539	Jurkat	blood:	n/a
41	chr14:22433489-22433539	PANC-1	pancreas:	n/a
42	chr14:22433693-22433743	CMK	blood:	n/a
43	chr14:22433693-22433743	Hela-S3	cervix:	n/a
44	chr14:22433693-22433743	H1-hESC	embryonic stem cell:	embryo
45	chr14:22433489-22433539	HRPEpiC	eye:	n/a
46	chr14:22433489-22433539	GM12891	blood:	n/a
47	chr14:22433693-22433743	HCM	heart:	n/a
48	chr14:22433489-22433539	HIPEpiC	eye:	n/a
49	chr14:22433489-22433539	BJ	skin:	n/a
50	chr14:22433693-22433743	K562	blood:	n/a

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR10G2-7	chr14:22432255-22433844	l_935_chr14:22432254-22434316_brain
2	lnc-OR10G2-7	chr14:22434299-22434316	l_935_chr14:22432254-22434316_brain
3	lnc-OR4E2-6	chr14:22434001-22434123	NONHSAT035724
4	lnc-OR10G2-6	chr14:22431047-22431270	NONHSAT035723
5	lnc-OR4E2-6	chr14:22433628-22433787	NONHSAT035724

No data

Variant related genes	Relation type
ENSG00000258557	TF binding region
TRAV12-3	TF binding region
ENSG00000258557	CpG island
TRAV12-3	CpG island

Extended variants
information (count: 292 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568634937	chr14:22428873-22428874	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs76221465	chr14:22428881-22428882	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs562795919	chr14:22428888-22428889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs547602564	chr14:22428890-22428891	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs141799044	chr14:22428931-22428932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs538375929	chr14:22428938-22428939	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs35455871	chr14:22428945-22428946	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs545136928	chr14:22428956-22428957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs61981174	chr14:22428958-22428959	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575172939	chr14:22428981-22428982	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs1040297	chr14:22428984-22428985	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs150154446	chr14:22429007-22429008	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs112681956	chr14:22429087-22429088	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs540394218	chr14:22429111-22429112	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs138386167	chr14:22429122-22429123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs377369376	chr14:22429161-22429162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs546352149	chr14:22429166-22429167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs562859576	chr14:22429195-22429196	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs527954510	chr14:22429234-22429235	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs564782835	chr14:22429259-22429260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs530551034	chr14:22429260-22429261	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs562201956	chr14:22429293-22429294	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs370161155	chr14:22429334-22429335	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs2178780	chr14:22429336-22429337	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs147351083	chr14:22429349-22429350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs114076090	chr14:22429365-22429366	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs567836603	chr14:22429409-22429410	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs73579959	chr14:22429419-22429420	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs568937776	chr14:22429434-22429435	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs534108940	chr14:22429616-22429617	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs570290040	chr14:22429635-22429636	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs553993305	chr14:22429637-22429638	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs111537786	chr14:22429643-22429644	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs4982533	chr14:22429647-22429648	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs556333944	chr14:22429658-22429659	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs143504335	chr14:22429663-22429664	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs541821877	chr14:22429681-22429682	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs144792708	chr14:22429687-22429688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs148553437	chr14:22429710-22429711	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs568818361	chr14:22429749-22429750	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs541367743	chr14:22429752-22429753	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs564338100	chr14:22429801-22429802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs533305076	chr14:22429822-22429823	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs113948329	chr14:22429826-22429827	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs568824942	chr14:22429863-22429864	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs531457153	chr14:22429884-22429885	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs185040044	chr14:22429896-22429897	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs568080310	chr14:22429899-22429900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs534069608	chr14:22429904-22429905	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs142978000	chr14:22429909-22429910	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22430600-22434400	Enhancers	Primary T cells from cord blood	blood
2	chr14:22431000-22431200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:22431000-22433800	Enhancers	Dnd41	blood
4	chr14:22431200-22431400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:22431200-22432800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:22431400-22431600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:22431400-22432000	Enhancers	Fetal Thymus	thymus
8	chr14:22431400-22432400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr14:22431400-22432600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:22431400-22432800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:22431600-22432800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:22431600-22433000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr14:22431600-22433800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr14:22432000-22433400	Weak transcription	Fetal Thymus	thymus
15	chr14:22432400-22432800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:22432400-22432800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:22432600-22434400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:22432800-22433000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr14:22433000-22433800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr14:22433400-22434800	Enhancers	Fetal Thymus	thymus
21	chr14:22433600-22434200	Active TSS	Primary T cells fromperipheralblood	blood
22	chr14:22433800-22434000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr14:22433800-22434000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr14:22433800-22434800	Active TSS	Thymus	Thymus
25	chr14:22434000-22434200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr14:22434000-22441600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr14:22434200-22434600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr14:22434600-22434800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr14:22434800-22435400	Weak transcription	Thymus	Thymus
30	chr14:22435400-22435600	Enhancers	Thymus	Thymus
31	chr14:22435600-22435800	Weak transcription	Thymus	Thymus

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